Genomics and genetics in the biology of adaptation to exercise

Comprehensive Physiology

Volumn 1, Issue 3, 2011, Pages 1603-1648

  Bouchard, Claude ^a   Rankinen, Tuomo ^a   Timmons, James A ^b  

^a PENNINGTON BIOMEDICAL RESEARCH CENTER   (United States)

^b ROYAL VETERINARY COLLEGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMALIA;

ADAPTATION; ANIMAL; EXERCISE; EXERCISE TOLERANCE; GENETICS; GENOMICS; HUMAN; PHYSIOLOGY; QUANTITATIVE TRAIT;

ADAPTATION, PHYSIOLOGICAL; ANIMALS; EXERCISE; EXERCISE TOLERANCE; GENOMICS; HUMANS; QUANTITATIVE TRAIT, HERITABLE;

EID: 80053366814     PISSN: None     EISSN: 20404603     Source Type: Journal    
DOI: 10.1002/cphy.c100059     Document Type: Article

References (390)

1. Abecasis GR, Cardon LR, Cookson WO. A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66: 279-292, 2000.
2. Adesida AB, Grady LM, Khan WS, Millward-Sadler SJ, Salter DM, Hardingham TE. Human meniscus cells express hypoxia inducible factor-1alpha and increased SOX9 in response to low oxygen tension in cell aggregate culture. Arthritis Res Ther 9: R69, 2007.
3. Ahmetov, II, Druzhevskaya AM, Astratenkova IV, Popov DV, Vinogradova OL, Rogozkin VA. The ACTN3 R577X polymorphism in Russian endurance athletes. Br J Sports Med 44: 649-652, 2010.
4. Akaike H. Anewlook at the statistical model identification. IEEE Trans Automat Control 19: 716-723, 1974.
5. Akimoto T, Pohnert SC, Li P, Zhang M, Gumbs C, Rosenberg PB, Williams RS, Yan Z. Exercise stimulates Pgc-1alpha transcription in skeletal muscle through activation of the p38 MAPK pathway. J Biol Chem 280: 19587-19593, 2005.
6. Almasy L, Blangero J. Contemporary model-free methods for linkage analysis. Adv Genet 60: 175-193, 2008.
7. Ameln H, Gustafsson T, Sundberg CJ, Okamoto K, Jansson E, Poellinger L, Makino Y. Physiological activation of hypoxia inducible factor-1 in human skeletal muscle. FASEB J 19: 1009-1011, 2005.
8. An P, Borecki IB, Rankinen T, Perusse L, Leon AS, Skinner JS, Wilmore JH, Bouchard C, Rao DC. Evidence of major genes for exercise heart rate and blood pressure at baseline and in response to 20 weeks of endurance training: TheHERITAGE family study. Int J Sports Med 24: 492-498, 2003.
9. An P, Perusse L, Rankinen T, Borecki IB, Gagnon J, Leon AS, Skinner JS,Wilmore JH, Bouchard C, Rao DC. Familial aggregation of exercise heart rate and blood pressure in response to 20 weeks of endurance training: The HERITAGE family study. Int J Sports Med 24: 57-62, 2003.
10. An P, Rice T, Gagnon J, Leon AS, Skinner JS, Bouchard C, Rao DC, Wilmore JH. Familial aggregation of stroke volume and cardiac output during submaximal exercise: The HERITAGE Family Study. Int J Sports Med 21: 566-572, 2000.
11. Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou GM, Shtilbans A, Bonilla E, DiMauro S. A nonsense mutation (G15059A) in the cytochrome b gene in a patientwith exercise intolerance and myoglobinuria. Ann Neurol 45: 127-130, 1999.
12. Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH, DiMauro S.Missensemutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology 51: 1444-1447, 1998.
13. Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 341: 1037-1044, 1999.
14. Andreu AL, Tanji K, Bruno C, Hadjigeorgiou GM, Sue CM, Jay C, Ohnishi T, Shanske S, Bonilla E, DiMauro S. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene. Ann Neurol 45: 820-823, 1999.
15. Annex BH, Torgan CE, Lin P, Taylor DA, Thompson MA, Peters KG, Kraus WE. Induction and maintenance of increased VEGF protein by chronic motor nerve stimulation in skeletal muscle. Am J Physiol 274: H860-H867, 1998.
16. Argyropoulos G, Stutz AM, Ilnytska O, Rice T, Teran-Garcia M, Rao DC, Bouchard C, Rankinen T. KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise. PhysiolGenomics 36: 79-88, 2009.
17. Astrand A, Bohlooly YM, Larsdotter S, Mahlapuu M, Andersen H, Tornell J, Ohlsson C, Snaith M, Morgan DG. Mice lacking melaninconcentrating hormone receptor 1 demonstrate increased heart rate associated with altered autonomic activity. Am J Physiol Regul Integr Comp Physiol 287: R749-R758, 2004.
18. Babraj JA, Vollaard NB, Keast C, Guppy FM, Cottrell G, Timmons JA. Extremely short duration high intensity interval training substantially improves insulin action in young healthy males. BMC Endocr Disord 9: 3, 2009.
19. Bamman MM, Petrella JK, Kim JS, Mayhew DL, Cross JM. Cluster analysis tests the importance of myogenic gene expression during myofiber hypertrophy in humans. J Appl Physiol 102: 2232-2239, 2007.
20. Barbato JC, Koch LG, Darvish A, Cicila GT, Metting PJ, Britton SL. Spectrum of aerobic endurance running performance in eleven inbred strains of rats. J Appl Physiol 85: 530-536, 1998.
21. Bengtsson J, Gustafsson T, Widegren U, Jansson E, Sundberg CJ. Mitochondrial transcription factor A and respiratory complex IV increase in response to exercise training in humans. Pflugers Arch 443: 61-66, 2001.
22. Beunen G, Thomis M. Genetics of strength and power characteristics in children and adolescents. Pediatr Exerc Sci 15: 128-138, 2003.
23. Beunen G, Thomis M. Gene powered? Where to go from heritability (h2) in muscle strength and power? Exerc Sport Sci Rev 32: 148-154, 2004.
24. Bielen E, Fagard R, Amery A. The inheritance of left ventricular structure and function assessed by imaging and Doppler echocardiography. Am Heart J 121: 1743-1749, 1991a.
25. Bielen EC, FagardRH, Amery AK. Inheritance of acute cardiac changes during bicycle exercise: An echocardiographic study in twins. Med Sci Sports Exerc 23: 1254-1259, 1991b.
26. Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS J 272: 3583-3592, 2005.
27. Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. Carnitine palmitoyltransferase deficiencies. Mol Genet Metab 68: 424-440, 1999.
28. Booth FW, Lees S. Fundamental questions about genes, inactivity, and chronic diseases. Physiol Genomics 17: 146-157, 2006.
29. Bortot B, Barbi E, Biffi S, Angelini C, Faleschini E, Severini GM, Carrozzi M. Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy. Mitochondrion 9: 123-129, 2009.
30. Bouchard C. Human adaptability may have a genetic basis. In: Landry F, editor. Health Risk Estimation, Risk Reduction and Health Promotion: Proceedings of the 18th Annual Meeting of the Society of Prospective Medicine. Ottowa: Canadian Public Health Association, 1983, p. 463-476.
31. Bouchard C. Individual differences in the response to regular exercise. Int J Obes Relat Metab Disord 19 Suppl 4: S5-S8, 1995.
32. Bouchard C, An P, Rice T, Skinner JS,Wilmore JH, Gagnon J, Perusse L, Leon AS, Rao DC. Familial aggregation of VO(2max) response to exercise training: Results from the HERITAGE Family Study. J Appl Physiol 87: 1003-1008, 1999.
33. Bouchard C, Daw EW, Rice T, Perusse L, Gagnon J, Province MA, Leon AS, Rao DC, Skinner JS, Wilmore JH. Familial resemblance for VO2max in the sedentary state: The HERITAGE family study. Med Sci Sports Exerc 30: 252-258, 1998.
34. Bouchard C, Dionne FT, Simoneau JA, Boulay MR.Genetics of aerobic and anaerobic performances. Exerc Sport Sci Rev 20: 27-58, 1992.
35. Bouchard C, Hoffman EP. Genetic and Molecular Aspects of Sports Performance. West Sussex, UK: International Olympic Committee/ Blackwell Publishing Ltd, 2011.
36. Bouchard C, Lesage R, Lortie G, Simoneau JA, Hamel P, Boulay MR, Perusse L, Theriault G, Leblanc C. Aerobic performance in brothers, dizygotic and monozygotic twins. Med Sci Sports Exerc 18: 639-646, 1986.
37. Bouchard C, Lortie G, Simoneau JA, Leblanc C, Theriault G, Tremblay A. Submaximal power output in adopted and biological siblings. Ann Hum Biol 11: 303-309, 1984.
38. Bouchard C, Malina RM, Perusse L. Genetics of Fitness and Physical Performance. Champaign, IL: Human Kinetics, 1997.
39. Bouchard C, Rankinen T. Individual differences in response to regular physical activity. Med Sci Sports Exerc 33: S446-S451; discussion S452-S453, 2001.
40. Bouchard C, Rankinen T. Genetic determinants of physical performance. In: Maughan RJ, editor. Olympic Textbook of Science in Sport. Hoboken, NJ: Wiley-Blackwell, 2009, p. 181-201.
41. Bouchard C, Rankinen T, Chagnon YC, Rice T, Perusse L, Gagnon J, Borecki I, An P, Leon AS, Skinner JS, Wilmore JH, Province M, Rao DC. Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE Family Study. J Appl Physiol 88: 551-559, 2000.
42. Bouchard C, Simoneau JA, Lortie G, Boulay MR, Marcotte M, Thibault MC. Genetic effects in human skeletal muscle fiber type distribution and enzyme activities. Can J Physiol Pharmacol 64: 1245-1251, 1986.
43. Bouchard C,Wolfarth B, Rivera MA, Gagnon J, Simoneau JA. Genetic determinants of endurance performance. In: Shephard RJ, Astrand PO, editors. Endurance in Sport. London, UK: Blackwell Science Ltd, 2000, p. 223-242.
44. Boule NG, Weisnagel SJ, Lakka TA, Tremblay A, Bergman RN, Rankinen T, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. Effects of exercise training on glucose homeostasis: The HERITAGE Family Study. Diabetes Care 28: 108-114, 2005.
45. Bray MS, Hagberg JM, Perusse L, Rankinen T, Roth SM, Wolfarth B, Bouchard C. The human gene map for performance and health-related fitness phenotypes: The 2006-2007 update. Med Sci Sports Exerc 41: 35-73, 2009.
46. Breen EC, Johnson EC, Wagner H, Tseng HM, Sung LA, Wagner PD. Angiogenic growth factor mRNA responses in muscle to a single bout of exercise. J Appl Physiol 81: 355-361, 1996.
47. Bruno C, Manfredi G, Andreu AL, Shanske S, Krishna S, Ilse WK, DiMauro S. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. Biochem Biophys Res Commun 249: 648-651, 1998.
48. Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C. Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Muscle Nerve 28: 508-511, 2003.
49. Burgomaster KA, Howarth KR, Phillips SM, Rakobowchuk M, Macdonald MJ, McGee SL, Gibala MJ. Similar metabolic adaptations during exercise after low volume sprint interval and traditional endurance training in humans. J Physiol 586: 151-160, 2008.
50. Burgomaster KA, Hughes SC, Heigenhauser GJ, Bradwell SN, Gibala MJ. Six sessions of sprint interval training increases muscle oxidative potential and cycle endurance capacity in humans. J Appl Physiol 98: 1985-1990, 2005.
51. Cai G, Cole SA, Butte N, Bacino C, Diego V, Tan K, Goring HH, O'Rahilly S, Farooqi IS, Comuzzie AG. A quantitative trait locus on chromosome 18q for physical activity and dietary intake in Hispanic children. Obesity 14: 1596-1604, 2006.
52. Calvo JA, Daniels TG, Wang X, Paul A, Lin J, Spiegelman BM, Stevenson SC, Rangwala SM. Muscle-specific expression of PPARgamma coactivator-1alpha improves exercise performance and increases peak oxygen uptake. J Appl Physiol 104: 1304-1312, 2008.
53. Campos Y, Bautista J, Gutierrez-Rivas E, Chinchon D, Cabello A, Segura D, Arenas J. Clinical heterogeneity in two pedigrees with the 3243 bp tRNA(Leu(UUR)) mutation of mitochondrial DNA. Acta Neurol Scand 91: 62-65, 1995.
54. Campos Y, Garcia A, Lopez A, Jimenez S, Rubio JC, Del Hoyo P, Bustos F, Martin MA, Cabello A, Ricoy JR, Arenas J. Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy. Muscle Nerve 25: 185-188, 2002.
55. Cardon LR, Fulker DW, Joreskog KG. A LISREL 8 model with constrained parameters for twin and adoptive families. Behav Genet 21: 327-350, 1991.
56. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat Rev Genet 3: 285-298, 2002.
57. Chang TI, Horal M, Jain SK, Wang F, Patel R, Loeken MR. Oxidant regulation of gene expression and neural tube development: Insights gained from diabetic pregnancy on molecular causes of neural tube defects. Diabetologia 46: 538-545, 2003.
58. Chin ER. Role of Ca2+/calmodulin-dependent kinases in skeletal muscle plasticity. J Appl Physiol 99: 414-423, 2005.
59. Chin ER, Grange RW, Viau F, Simard AR, Humphries C, Shelton J, Bassel-Duby R, Williams RS, Michel RN. Alterations in slow-twitch muscle phenotype in transgenic mice overexpressing the Ca2+ buffering protein parvalbumin. J Physiol 547: 649-663, 2003.
60. Chin ER, Olson EN, Richardson JA, Yang Q, Humphries C, Shelton JM, Wu H, Zhu W, Bassel-Duby R, Williams RS. A calcineurin-dependent transcriptional pathway controls skeletal muscle fiber type. Genes Dev 12: 2499-2509, 1998.
61. Choh AC, Demerath EW, Lee M, Williams KD, Towne B, Siervogel RM, Cole SA, Czerwinski SA. Genetic analysis of self-reported physical activity and adiposity: The Southwest Ohio Family Study. Public Health Nutr 12: 1052-1060, 2009.
62. Choi CS, Befroy DE, Codella R, Kim S, Reznick RM, Hwang YJ, Liu ZX, Lee HY, Distefano A, Samuel VT, Zhang D, Cline GW, Handschin C, Lin J, Petersen KF, Spiegelman BM, Shulman GI. Paradoxical effects of increased expression of PGC-1alpha on muscle mitochondrial function and insulin-stimulated muscle glucose metabolism. Proc Natl Acad Sci U S A 105: 19926-19931, 2008.
63. Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Seip RL, Hoffman EP. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol 99: 154-163, 2005.
64. Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N. Beta-enolase deficiency, a newmetabolic myopathy of distal glycolysis. Ann Neurol 50: 202-207, 2001.
65. Conne B, Stutz A, Vassalli JD. The 3_ untranslated region of messenger RNA: A molecular 'hotspot' for pathology? Nat Med 6: 637-641, 2000.
66. Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, BrownMJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C,Myers S, Newman W, Nimmo ER,O'DonovanMC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, ThomsonW,Travers ME,TurnbullC,Valsesia A,Walker M,Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464: 713-720, 2010.
67. Davidsen PK, Gallagher IJ, Hartman JW, Tarnopolsky MA, Dela F, Helge JW, Timmons JA, Phillips SM. High responders to resistance exercise training demonstrate differential regulation of skeletal muscle microRNA expression. J Appl Physiol 110: 309-317, 2011.
68. De Mars G, Windelinckx A, Huygens W, Peeters MW, Beunen GP, Aerssens J, Vlietinck R, Thomis MA. Genome-wide linkage scan for contraction velocity characteristics of knee musculature in the Leuven Genes for Muscular Strength Study. Physiol Genomics 35: 36-44, 2008a.
69. De Mars G, Windelinckx A, Huygens W, Peeters MW, Beunen GP, Aerssens J, Vlietinck R, Thomis MA. Genome-wide linkage scan for maximum and length-dependent knee muscle strength in young men: Significant evidence for linkage at chromosome 14q24.3. J MedGenet 45: 275-283, 2008b.
70. De Moor MH, Liu YJ, Boomsma DI, Li J, Hamilton JJ, Hottenga JJ, Levy S, Liu XG, Pei YF, Posthuma D, Recker RR, Sullivan PF, Wang L, Willemsen G, Yan H, De Geus EJC, Deng HW. Genome-wide association study of exercise behavior in Dutch and American adults. Med Sci Sports Exerc 41: 1887-1895, 2009.
71. De Moor MH, Posthuma D, Hottenga JJ, Willemsen G, Boomsma DI, De Geus EJ. Genome-wide linkage scan for exercise participation in Dutch sibling pairs. Eur J Hum Genet 15: 1252-1259, 2007.
72. De Moor MH, Spector TD, Cherkas LF, Falchi M, Hottenga JJ, BoomsmaDI, De Geus EJ. Genome-wide linkage scan for athlete status in 700 British female DZ twin pairs. Twin Res Hum Genet 10: 812-820, 2007.
73. De Moor MH, Stubbe JH, Boomsma DI, De Geus EJ. Exercise participation and self-rated health: Do common genes explain the association? Eur J Epidemiol 22: 27-32, 2007.
74. Defoor J, Martens K, Zielinska D, Matthijs G, Van Nerum H, Schepers D, Fagard R,Vanhees L. TheCAREGENEstudy: Polymorphisms of the beta1-adrenoceptor gene and aerobic power in coronary artery disease. Eur Heart J 27: 808-816, 2006.
75. Dela F, Larsen JJ, Mikines KJ, Galbo H. Normal effect of insulin to stimulate leg blood flow in NIDDM. Diabetes 44: 221-226, 1995.
76. Delmonico MJ, Kostek MC, Doldo NA, Hand BD, Walsh S, Conway JM, Carignan CR, Roth SM, Hurley BF. Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women. J Gerontol A Biol Sci Med Sci 62: 206-212, 2007.
77. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Rare variants create synthetic genome-wide associations. PLoS Biol 8: e1000294, 2010.
78. Drummond MJ, Fry CS, Glynn EL, Dreyer HC, Dhanani S, TimmermanKL, Volpi E, Rasmussen BB. Rapamycin administration in humans blocks the contraction-induced increase in skeletal muscle protein synthesis. J Physiol 587: 1535-1546, 2009.
79. Druzhevskaya AM, Ahmetov II, Astratenkova IV, Rogozkin VA. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol 103: 631-634, 2008.
80. Duggirala R, Blangero J, Almasy L, Dyer TD, Williams KL, Leach RJ, O'Connell P, Stern MP. Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet 64: 1127-1140, 1999.
81. Eynon N, Duarte JA, Oliveira J, Sagiv M, Yamin C, Meckel Y, Sagiv M, Goldhammer E. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med 30: 695-698, 2009.
82. Fagard R, Bielen E, Amery A. Heritability of aerobic power and anaerobic energy generation during exercise. J Appl Physiol 70: 357-362, 1991.
83. Febbraio MA, Hiscock N, Sacchetti M, Fischer CP, Pedersen BK. Interleukin-6 is a novel factor mediating glucose homeostasis during skeletal muscle contraction. Diabetes 53: 1643-1648, 2004.
84. Febbraio MA, Pedersen BK. Contraction-induced myokine production and release: Is skeletal muscle an endocrine organ? Exerc Sport Sci Rev 33: 114-119, 2005.
85. Franckhauser S, Elias I, Rotter Sopasakis V, Ferre T, Nagaev I, Andersson CX, Agudo J, Ruberte J, Bosch F, Smith U. Overexpression of Il6 leads to hyperinsulinaemia, liver inflammation and reduced body weight in mice. Diabetologia 51: 1306-1316, 2008.
86. Frazer KA, Eskin E, Kang HM, Bogue MA, Hinds DA, Beilharz EJ, Gupta RV, Montgomery J, Morenzoni MM, Nilsen GB, Pethiyagoda CL, Stuve LL, Johnson FM, Daly MJ, Wade CM, Cox DR. A sequencebased variation map of 8.27 million SNPs in inbred mouse strains. Nature 448: 1050-1053, 2007.
87. Frey N, Frank D, Lippl S, Kuhn C, Kogler H, Barrientos T, Rohr C, Will R, Muller OJ, Weiler H, Bassel-Duby R, Katus HA, Olson EN. Calsarcin-2 deficiency increases exercise capacity in mice through calcineurin/NFAT activation. J Clin Invest 118: 3598-3608, 2008.
88. Fujita S, Rasmussen BB, Cadenas JG, Drummond MJ, Glynn EL, Sattler FR, Volpi E. Aerobic exercise overcomes the age-related insulin resistance of muscle protein metabolism by improving endothelial function and Akt/mammalian target of rapamycin signaling. Diabetes 56: 1615-1622, 2007.
89. Gainetdinov RR,Wetsel WC, Jones SR, Levin ED, JaberM, Caron MG. Role of serotonin in the paradoxical calming effect of psychostimulants on hyperactivity. Science 283: 397-401, 1999.
90. Gallagher IJ, Scheele C, Keller P, Nielsen AR, Remenyi J, Fischer CP, Roder K, Babraj J,Wahlestedt C, Hutvagner G, Pedersen BK, Timmons JA. Integration of microRNAchanges in vivo identifies novel molecular features of muscle insulin resistance in type 2 diabetes. Genome Med 2: 9, 2010.
91. Gaskill SE, Rice T, Bouchard C, Gagnon J, Rao DC, Skinner JS, Wilmore JH, Leon AS. Familial resemblance in ventilatory threshold: The HERITAGE Family Study. Med Sci Sports Exerc 33: 1832-1840, 2001.
92. Gempel K, Topaloglu H, Talim B, Schneiderat P, Schoser BG, Hans VH, Palmafy B, Kale G, Tokatli A, Quinzii C, Hirano M, Naini A, Di-Mauro S, Prokisch H, Lochmuller H, Horvath R. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electrontransferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130: 2037-2044, 2007.
93. Gibala MJ, Little JP, van EssenM,Wilkin GP, Burgomaster KA, Safdar A, Raha S, Tarnopolsky MA. Short-term sprint interval versus traditional endurance training: Similar initial adaptations in human skeletal muscle and exercise performance. J Physiol 575: 901-911, 2006.
94. Gibala MJ, McGee SL. Metabolic adaptations to short-term highintensity interval training: A little pain for a lot of gain? Exerc Sport Sci Rev 36: 58-63, 2008.
95. Gibala MJ, McGee SL, Garnham AP, Howlett KF, SnowRJ,Hargreaves M. Brief intense interval exercise activates AMPK and p38 MAPK signaling and increases the expression of PGC-1alpha in human skeletal muscle. J Appl Physiol 106: 929-934, 2009.
96. Goldberg RB, Temprosa M, Haffner S, Orchard TJ, Ratner RE, Fowler SE, Mather K, Marcovina S, Saudek C, Matulik MJ, Price D. Effect of progression from impaired glucose tolerance to diabetes on cardiovascular risk factors and its amelioration by lifestyle and metformin intervention: The Diabetes Prevention Program randomized trial by the Diabetes Prevention Program Research Group. Diabetes Care 32: 726-732, 2009.
97. Gollnick PD, Armstrong RB, Saltin B, Saubert CWT, Sembrowich WL, Shepherd RE. Effect of training on enzyme activity and fiber composition of human skeletal muscle. J Appl Physiol 34: 107-111, 1973.
98. Gollnick PD, Saltin B. Significance of skeletal muscle oxidative enzyme enhancement with endurance training. Clin Physiol 2: 1-12, 1982.
99. Gonzalez NC, Kirkton SD, Howlett RA, Britton SL, Koch LG, Wagner HE, Wagner PD. Continued divergence in ̇ Vo2max of rats artificially selected for running endurance is mediated by greater convective blood O2 delivery. J Appl Physiol 101: 1288-1296, 2006.
100. Goring HH, Curran JE, Johnson MP, Dyer TD, Charlesworth J, Cole SA, Jowett JB, Abraham LJ, Rainwater DL, Comuzzie AG, Mahaney MC, Almasy L, MacCluer JW, Kissebah AH, Collier GR, Moses EK, Blangero J. Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. NatGenet 39: 1208-1216, 2007.
101. Grafakou O, Hol FA, Otfried Schwab K, SiersMH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J. Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. J Inherit Metab Dis 26: 593-600, 2003.
102. Grant SF, Thorleifsson G, Reynisdottir I, Benediktsson R, Manolescu A, Sainz J, Helgason A, Stefansson H, Emilsson V, Helgadottir A, Styrkarsdottir U, Magnusson KP,WaltersGB, Palsdottir E, Jonsdottir T, Gudmundsdottir T, Gylfason A, Saemundsdottir J,Wilensky RL, ReillyMP, Rader DJ, Bagger Y, Christiansen C, Gudnason V, Sigurdsson G, Thorsteinsdottir U, Gulcher JR, Kong A, Stefansson K. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 38: 320-323, 2006.
103. Greenhaff PL, Karagounis LG, Peirce N, Simpson EJ, Hazell M, Layfield R, Wackerhage H, Smith K, Atherton P, Selby A, Rennie MJ. Disassociation between the effects of amino acids and insulin on signaling, ubiquitin ligases, and protein turnover in human muscle. Am J Physiol Endocrinol Metab 295: E595-E604, 2008.
104. Gu C, Rao DC. A linkage strategy for detection of human quantitativetrait loci. I. Generalized relative risk ratios and power of sib pairs with extreme trait values. Am J Hum Genet 61: 200-210, 1997.
105. Gu J, Orr N, Park SD, Katz LM, Sulimova G, MacHugh DE, Hill EW. A genome scan for positive selection in thoroughbred horses. PLoS ONE 4: e5767, 2009.
106. Gustafsson T, Kraus WE. Exercise-induced angiogenesis-related growth and transcription factors in skeletal muscle, and their modification in muscle pathology. Front Biosci 6: D75-D89, 2001.
107. Gustafsson T, Puntschart A, Kaijser L, Jansson E, Sundberg CJ. Exercise-induced expression of angiogenesis-related transcription and growth factors in human skeletal muscle. Am J Physiol 276: H679-H685, 1999.
108. HadjigeorgiouGM, KawashimaN, Bruno C, Andreu AL, Sue CM, Rigden DJ, Kawashima A, Shanske S, DiMauro S. Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene. Neuromuscul Disord 9: 399-402, 1999.
109. Hagberg JM, Ferrell RE, Katzel LI, Dengel DR, Sorkin JD, Goldberg AP. Apolipoprotein E genotype and exercise training-induced increases in plasma high-density lipoprotein (HDL)- and HDL2-cholesterol levels in overweight men. Metabolism 48: 943-945, 1999.
110. Hamano T, Mutoh T, SugieH,KogaH,KuriyamaM. Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation. Neurology 54: 1188-1190, 2000.
111. Hamel P, Simoneau JA, Lortie G, Boulay MR, Bouchard C. Heredity and muscle adaptation to endurance training. Med Sci Sports Exerc 18: 690-696, 1986.
112. Handschin C, Chin S, Li P, Liu F, Maratos-Flier E, Lebrasseur NK, Yan Z, Spiegelman BM. Skeletal muscle fiber-type switching, exercise intolerance, and myopathy in PGC-1alpha muscle-specific knock-out animals. J Biol Chem 282: 30014-30021, 2007.
113. Handschin C, Spiegelman BM. The role of exercise and PGC1alpha in inflammation and chronic disease. Nature 454: 463-469, 2008.
114. Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet 63: 29-36., 1998.
115. Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet 56: 1017-1025, 1995.
116. Hardie DG. AMPK: A key regulator of energy balance in the single cell and the whole organism. Int J Obes (Lond) 32 Suppl 4: S7-S12, 2008.
117. Hautala AJ, Makikallio TH, Kiviniemi A, Laukkanen RT, Nissila S, Huikuri HV, Tulppo MP. Cardiovascular autonomic function correlates with the response to aerobic training in healthy sedentary subjects. Am J Physiol Heart Circ Physiol 285: H1747-H1752, 2003.
118. Hawley JA. Molecular responses to strength and endurance training: are they incompatible? Appl Physiol Nutr Metab 34: 355-361, 2009.
119. Hellerud C, WramnerN, Erikson A, JohanssonA, Samuelson G, Lindstedt S. Glycerol kinase deficiency: Follow-up during 20 years, genetics, biochemistry and prognosis. Acta Paediatr 93: 911-921, 2004.
120. Henderson KK,Wagner H, Favret F, Britton SL, Koch LG, Wagner PD, Gonzalez NC. Determinants of maximal O(2) uptake in rats selectively bred for endurance running capacity. J Appl Physiol 93: 1265-1274, 2002.
121. Hickson RC, Dvorak BA, Gorostiaga EM, Kurowski TT, Foster C. Potential for strength and endurance training to amplify endurance performance. J Appl Physiol 65: 2285-2290, 1988.
122. Hiscock N, Chan MH, Bisucci T, Darby IA, Febbraio MA. Skeletal myocytes are a source of interleukin-6 mRNA expression and protein release during contraction: Evidence of fiber type specificity. FASEB J 18: 992-994, 2004.
123. Hiscock N, Fischer CP, Sacchetti M, van Hall G, Febbraio MA, Pedersen BK. Recombinant human interleukin-6 infusion during lowintensity exercise does not enhance whole body lipolysis or fat oxidation in humans. Am J Physiol Endocrinol Metab 289: E2-7, 2005.
124. Holten MK, Zacho M, Gaster M, Juel C, Wojtaszewski JF, Dela F. Strength training increases insulin-mediated glucose uptake, GLUT4 content, and insulin signaling in skeletal muscle in patients with type 2 diabetes. Diabetes 53: 294-305, 2004.
125. Horikoshi M, Hara K, Ohashi J, Miyake K, Tokunaga K, Ito C, Kasuga M, Nagai R, Kadowaki T. Apolymorphism in theAMPKalpha2 subunit gene is associated with insulin resistance and type 2 diabetes in the Japanese population. Diabetes 55: 919-923, 2006.
126. Horvath R, Schoser BG, Muller-Hocker J, Volpel M, Jaksch M, Lochmuller H. Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. Neuromuscul Disord 15: 851-857, 2005.
127. Houmard JA, Tanner CJ, Slentz CA, Duscha BD, McCartney JS, Kraus WE. Effect of the volume and intensity of exercise training on insulin sensitivity. J Appl Physiol 96: 101-106, 2004.
128. Howlett RA, Gonzalez NC, Wagner HE, Fu Z, Britton SL, Koch LG, Wagner PD. Selected contribution: Skeletal muscle capillarity and enzyme activity in rats selectively bred for running endurance. J Appl Physiol 94: 1682-1688, 2003.
129. Hutchison WM, Thyagarajan D, Poulton J, Marchington DR, Kirby DM, Manji SS, Dahl HH. Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene. Arch Neurol 62: 1920-1923, 2005.
130. Huygens W, Thomis MA, Peeters MW, Vlietinck RF, Beunen GP. Determinants and upper-limit heritabilities of skeletal muscle mass and strength. Can J Appl Physiol 29: 186-200, 2004.
131. Ingalls CP. Nature vs. nurture: Can exercise really alter fiber type composition in human skeletal muscle? J Appl Physiol 97: 1591-1592, 2004.
132. Isackson PJ, Bujnicki H, Harding CO, Vladutiu GD. Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene. Mol Genet Metab 86: 250-256, 2005.
133. Jensen TE, Wojtaszewski JF,Richter EA. AMP-activated protein kinase in contraction regulation of skeletal muscle metabolism: Necessary and/or sufficient? Acta Physiol (Oxf) 196: 155-174, 2009.
134. Johnson JL, Slentz CA, Houmard JA, Samsa GP, Duscha BD, Aiken LB, McCartney JS, Tanner CJ, Kraus WE. Exercise training amount and intensity effects on metabolic syndrome (from Studies of a Targeted Risk Reduction Intervention through Defined Exercise). Am J Cardiol 100: 1759-1766, 2007.
135. Jones SW, Hill RJ, Krasney PA, O'Conner B, Peirce N, Greenhaff PL. Disuse atrophy and exercise rehabilitation in humans profoundly affects the expression of genes associated with the regulation of skeletal muscle mass. FASEB J 18: 1025-1027, 2004.
136. Jonsdottir IH, Schjerling P, Ostrowski K, Asp S, Richter EA, Pedersen BK. Muscle contractions induce interleukin-6 mRNA production in rat skeletal muscles. J Physiol 528 Pt 1: 157-163, 2000.
137. Jorgensen SB, Wojtaszewski JF, Viollet B, Andreelli F, Birk JB, Hellsten Y, Schjerling P, Vaulont S, Neufer PD, Richter EA, Pilegaard H. Effects of alpha-AMPK knockout on exercise-induced gene activation in mouse skeletal muscle. FASEB J 19: 1146-1148, 2005.
138. Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology 55: 644-649, 2000.
139. Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA. Neuromuscul Disord 12: 865-868., 2002.
140. Katzmarzyk PT, Gledhill N, Perusse L, Bouchard C. Familial aggregation of 7-year changes in musculoskeletal fitness. J Gerontol A Biol Sci Med Sci 56: B497-502, 2001.
141. Katzmarzyk PT, Perusse L, Rao DC, Bouchard C. Familial risk ratios for high and low physical fitness levels in the Canadian population. Med Sci Sports Exerc 32: 614-619, 2000.
142. Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 67: 1400-1410., 2000.
143. Keller P, PenkowaM,Keller C, SteensbergA, Fischer CP, Giralt M, Hidalgo J, Pedersen BK. Interleukin-6 receptor expression in contracting human skeletal muscle: Regulating role of IL6. FASEB J 19: 1181-1183, 2005.
144. Keller P, Vollaard N, Babraj J, Ball D, Sewell DA, Timmons JA. Using systems biology to define the essential biological networks responsible for adaptation to endurance exercise training. Biochem Soc Trans 35: 1306-1309, 2007.
145. Keller P, Vollaard NB, Gustafsson T, Gallagher IJ, Sundberg CJ, Rankinen T, Britton SL, Bouchard C, Koch LG, Timmons JA. A transcriptional map of the impact of endurance exercise training on skeletal muscle phenotype. J Appl Physiol 110: 46-59 2011.
146. Kelly MA, Rubinstein M, Phillips TJ, Lessov CN, Burkhart-Kasch S, Zhang G, Bunzow JR, Fang Y, Gerhardt GA, Grandy DK, Low MJ. Locomotor activity in D2 dopamine receptor-deficient mice is determined by gene dosage, genetic background, and developmental adaptations. J Neurosci 18: 3470-3479, 1998.
147. Kelly SA, Nehrenberg DL, Peirce JL, Hua K, Steffy BM, Wiltshire T, Pardo-Manuel deVillena F,Garland T Jr., Pomp D. Genetic architecture of voluntary exercise in an advanced intercross line of mice. Physiol Genomics 42: 190-200, 2010.
148. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389, 2005.
149. Klissouras V. Heritability of adaptive variation. J Appl Physiol 31: 338-344, 1971.
150. Klissouras V, Pirnay F, Petit JM. Adaptation to maximal effort: Genetics and age. J Appl Physiol 35: 288-293, 1973.
151. Knowler WC, Barrett-Connor E, Fowler SE, Hamman RF, Lachin JM, Walker EA, Nathan DM. Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin. N Engl J Med 346: 393-403, 2002.
152. Koch LG, Britton SL. Aerobic metabolism underlies complexity and capacity. J Physiol 586: 83-95, 2008.
153. Koch LG,Meredith TA, Fraker TD, Metting PJ, Britton SL. Heritability of treadmill running endurance in rats. Am J Physiol 275: R1455-1460, 1998.
154. Kohrt WM, Malley MT, Coggan AR, Spina RJ, Ogawa T, Ehsani AA, Bourey RE, Martin WH III, Holloszy JO. Effects of gender, age, and fitness level on response of VO2max to training in 60-71 yr olds. J Appl Physiol 71: 2004-2011, 1991.
155. Kokkotou E, Jeon JY, Wang X, Marino FE, Carlson M, Trombly DJ, Maratos-Flier E. Mice with MCH ablation resist diet-induced obesity through strain-specific mechanisms. Am J Physiol Regul Integr Comp Physiol 289: R117-124, 2005.
156. Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, OldforsA,Holme E. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med 357: 1507-1514, 2007.
157. Koller BH, Hagemann LJ, Doetschman T, Hagaman JR, Huang S, Williams PJ, FirstNL, MaedaN, Smithies O. Germ-line transmission of a planned alteration made in a hypoxanthine phosphoribosyltransferase gene by homologous recombination in embryonic stem cells. Proc Natl Acad Sci U S A 86: 8927-8931, 1989.
158. Kramer HF, Goodyear LJ. Exercise, MAPK, and NF-kappaB signaling in skeletal muscle. J Appl Physiol 103: 388-395, 2007.
159. Kraus WE, Houmard JA, Duscha BD, Knetzger KJ, Wharton MB, McCartney JS, Bales CW, Henes S, Samsa GP, Otvos JD, Kulkarni KR, Slentz CA. Effects of the amount and intensity of exercise on plasma lipoproteins. N Engl J Med 347: 1483-1492, 2002.
160. Kriketos AD, Pan DA, Lillioja S, Cooney GJ, Baur LA, Milner MR, Sutton JR, Jenkins AB, Bogardus C, Storlien LH. Interrelationships between muscle morphology, insulin action, and adiposity. Am J Physiol 270: R1332-1339, 1996.
161. Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, Stephan DA, Kontula K. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103: 485-490, 2001.
162. Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 12: 49-52, 2002.
163. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann N, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL,Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J,Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, OlsonMV, Kaul R, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R,McCombie WR, de la BastideM, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowski J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ. Initial sequencing and analysis of the human genome. Nature 409: 860-921, 2001.
164. Leick L, Plomgaard P, Gronlokke L, Al-Abaiji F,Wojtaszewski JF, Pilegaard H. Endurance exercise induces mRNA expression of oxidative enzymes in human skeletal muscle late in recovery. Scand J Med Sci Sports 20: 593-599, 2010.
165. Leick L,Wojtaszewski JF, Johansen ST, Kiilerich K, Comes G, Hellsten Y, Hidalgo J, Pilegaard H. PGC-1alpha is not mandatory for exerciseand training-induced adaptive gene responses in mouse skeletal muscle. Am J Physiol Endocrinol Metab 294: E463-474, 2008.
166. Leon AS, Rice T, Mandel S, Despres JP, Bergeron J, Gagnon J, Rao DC, Skinner JS, Wilmore JH, Bouchard C. Blood lipid response to 20 weeks of supervised exercise in a large biracial population: The HERITAGE Family Study. Metabolism 49: 513-520, 2000.
167. Lesage R, Simoneau JA, Jobin J, Leblanc J, Bouchard C. Familial resemblance in maximal heart rate, blood lactate and aerobic power. Hum Hered 35: 182-189, 1985.
168. Lightfoot JT, Leamy L, Pomp D, Turner MJ, Fodor AA, Knab A, Bowen RS, Ferguson D, Moore-Harrison T, Hamilton A. Strain screen and haplotype association mapping of wheel running in inbred mouse strains. J Appl Physiol 109: 623-634, 2010.
169. Lightfoot JT, Turner MJ, Knab AK, Jedlicka AE, Oshimura T, Marzec J, Gladwell W, Leamy LJ, Kleeberger SR. Quantitative trait loci associated with maximal exercise endurance in mice. J Appl Physiol 103: 105-110, 2007.
170. Lillioja S, Young AA, Culter CL, Ivy JL, Abbott WG, Zawadzki JK, Yki-Jarvinen H, Christin L, Secomb TW, Bogardus C. Skeletal muscle capillary density and fiber type are possible determinants of in vivo insulin resistance in man. J Clin Invest 80: 415-424, 1987.
171. Lin J,WuH, Tarr PT, Zhang CY,Wu Z, Boss O, Michael LF, Puigserver P, Isotani E, Olson EN, Lowell BB, Bassel-Duby R, Spiegelman BM. Transcriptional co-activator PGC-1 alpha drives the formation of slowtwitch muscle fibres. Nature 418: 797-801, 2002.
172. Liu Y, Randall WR, Schneider MF. Activity-dependent and -independent nuclear fluxes of HDAC4 mediated by different kinases in adult skeletal muscle. J Cell Biol 168: 887-897, 2005.
173. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Metaanalysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33: 177-182, 2003.
174. Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, CopelandWC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 78: 1026-1034, 2006.
175. Loos RJ, Rankinen T, Tremblay A, Perusse L, Chagnon Y, Bouchard C. Melanocortin-4 receptor gene and physical activity in the Quebec Family Study. Int J Obes (Lond) 29: 420-428, 2005.
176. Lortie G, Bouchard C, Leblanc C, Tremblay A, Simoneau JA, Theriault G, Savoie JP. Familial similarity in aerobic power. Hum Biol 54: 801-812, 1982.
177. Lortie G, Simoneau JA, Hamel P, Boulay MR, Landry F, Bouchard C. Responses of maximal aerobic power and capacity to aerobic training. Int J Sports Med 5: 232-236, 1984.
178. Lucia A, Gomez-Gallego F, Santiago C, Bandres F, Earnest C, Rabadan M, Alonso JM, Hoyos J, Cordova A, Villa G, Foster C. ACTN3 genotype in professional endurance cyclists. Int J Sports Med 27: 880-884, 2006.
179. Maarbjerg SJ, Jorgensen SB, Rose AJ, Jeppesen J, Jensen TE, Treebak JT, Birk JB, Schjerling P, Wojtaszewski JF, Richter EA. Genetic impairment of {alpha}2-AMPK signaling does not reduce muscle glucose uptake during treadmill exercise in mice. Am J Physiol Endocrinol Metab 297: E294-E234, 2009.
180. Maekawa M, Sudo K, Kanno T, Li SS. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. Biochem Biophys Res Commun 168: 677-682, 1990.
181. Maes H, Beunen G, Vlietinck R, Lefevre J, Van Den Bossche C, Claessens A, Derom R, Lysens R, Renson R, Simons J, Vanden Eynde B. Heritability of health- and perforamnce-related fitness: Data from the Leuven Longitudinal Twin Study. In: Duquet W, Day JAP, editors. Kinanthropometry IV. London: Spon, 1993, p. 140-149.
182. Maes HH, Beunen GP, Vlietinck RF, Neale MC, Thomis M, Vanden Eynde B, Lysens R, Simons J, Derom C, Derom R. Inheritance of physical fitness in 10-yr-old twins and their parents. Med Sci Sports Exerc 28: 1479-1491, 1996.
183. Mahoney DJ, Parise G, Melov S, Safdar A, Tarnopolsky MA. Analysis of global mRNA expression in human skeletal muscle during recovery from endurance exercise. FASEB J 19: 1498-1500, 2005.
184. Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. J Neurol Sci 209: 61-63, 2003.
185. Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med 363: 166-176, 2010.
186. Mansour SL, Thomas KR, Capecchi MR. Disruption of the protooncogene int-2 in mouse embryo-derived stem cells: A general strategy for targeting mutations to non-selectable genes. Nature 336: 348-352, 1988.
187. Marsh DJ, Weingarth DT, Novi DE, Chen HY, Trumbauer ME, Chen AS, Guan XM, Jiang MM, Feng Y, Camacho RE, Shen Z, Frazier EG, Yu H, Metzger JM, Kuca SJ, Shearman LP, Gopal-Truter S, MacNeil DJ, Strack AM, MacIntyre DE, Van Der Ploeg LH, Qian S. Melaninconcentrating hormone 1 receptor-deficient mice are lean, hyperactive, and hyperphagic and have altered metabolism. Proc Natl Acad Sci U S A 99: 3240-3245, 2002.
188. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D,Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477-488, 2008.
189. Martin MA, Rubio JC, del Hoyo P, Garcia A, Bustos F, Campos Y, Cabello A, Culebras JM, Arenas J. Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. Hum Mutat 15: 579-580., 2000.
190. Mattick JS. The genetic signatures of noncoding RNAs. PLoS Genet 5: e1000459, 2009.
191. Mattick JS, Makunin IV. Non-coding RNA. Hum Mol Genet 15[Spec No 1]: R17-29, 2006.
192. Mayhew DL, Kim JS, Cross JM, Ferrando AA, Bamman MM. Translational signaling responses preceding resistance training-mediated myofiber hypertrophy in young and old humans. J Appl Physiol 107: 1655-1662, 2009.
193. McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 10: 13-33, 1951.
194. McCauley T, Mastana SS, Folland JP. ACE I/D and ACTN3 R/X polymorphisms and muscle function and muscularity of older Caucasian men. Eur J Appl Physiol 109: 269-277, 2010.
195. McCauley T, Mastana SS, Hossack J, Macdonald M, Folland JP. Human angiotensin-converting enzyme I/D and alpha-actinin 3 R577X genotypes and muscle functional and contractile properties. Exp Physiol 94: 81-89, 2009.
196. McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord 14: 162-166, 2004.
197. McGee SL, Fairlie E, Garnham AP, Hargreaves M. Exercise-induced histone modifications in human skeletal muscle. J Physiol 587: 5951-5958, 2009.
198. Meek TH, Lonquich BP, Hannon RM, Garland T Jr. Endurance capacity of mice selectively bred for high voluntary wheel running. J Exp Biol 212: 2908-2917, 2009.
199. Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Raber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS,Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359: 1685-1699, 2008.
200. Mongini T, Doriguzzi C, Bosone I, Chiado-Piat L, Hoffman EP, Palmucci L. Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. Neuropediatrics 33: 109-111., 2002.
201. Montgomery HE, Clarkson P, Dollery CM, Prasad K, Losi MA, Hemingway H, Statters D, Jubb M, Girvain M, Varnava A, World M, Deanfield J, Talmud P, McEwan JR, McKenna WJ, Humphries S. Association of angiotensin-converting enzyme gene I/D polymorphism with change in left ventricular mass in response to physical training. Circulation 96: 741-747, 1997.
202. Montoye HJ, Gayle R. Familial relationships in maximal oxygen uptake. Hum Biol 50: 241-249, 1978.
203. Moore LL, LombardiDA,White MJ, Campbell JL, Oliveria SA, Ellison RC. Influence of parents' physical activity levels on activity levels of young children. J Pediatr 118: 215-219, 1991.
204. Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstrale M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, Tamayo P, Spiegelman B, Lander ES, Hirschhorn JN, Altshuler D, Groop LC. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet 34: 267-273, 2003.
205. Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet 15: 88-93, 2007.
206. Mosher DS, Quignon P, Bustamante CD, Sutter NB, Mellersh CS, Parker HG, Ostrander EA. A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet 3: e79, 2007.
207. Munoz-Malaga A, Bautista J, Salazar JA, Aguilera I, Garcia R, Chinchon I, Segura MD, Campos Y, Arenas J. Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy? Muscle Nerve 23: 538-542., 2000.
208. Murgia M, Jensen TE, Cusinato M, Garcia M, Richter EA, Schiaffino S. Multiple signalling pathways redundantly control glucose transporter GLUT4 gene transcription in skeletal muscle. J Physiol 587: 4319-4327, 2009.
209. Murton AJ, Greenhaff PL. Physiological control of muscle mass in humans during resistance exercise, disuse and rehabilitation. Curr Opin Clin Nutr Metab Care 13: 249-254, 2010.
210. Mustelin L, Pietilainen KH, Rissanen A, Sovijarvi AR, Piirila P, Naukkarinen J, Peltonen L, Kaprio J, Yki-Jarvinen H. Acquired obesity and poor physical fitness impair expression of genes of mitochondrial oxidative phosphorylation in monozygotic twins discordant for obesity. Am J Physiol Endocrinol Metab 295: E148-E154, 2008.
211. Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S. Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy. Am J Hum Genet 66: 1900-1904, 2000.
212. Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Messina C, Vita G, Toscano A. Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. Neuromuscul Disord 15: 409-411, 2005.
213. Myers J, Kaykha A, George S, Abella J, Zaheer N, Lear S, Yamazaki T, Froelicher V. Fitness versus physical activity patterns in predicting mortality in men. Am J Med 117: 912-918, 2004.
214. Myers J, Prakash M, Froelicher V, Do D, Partington S, Atwood JE. Exercise capacity and mortality among men referred for exercise testing. N Engl J Med 346: 793-801, 2002.
215. Myerson SG, Montgomery HE, Whittingham M, Jubb M, World MJ, Humphries SE, Pennell DJ. Left ventricular hypertrophy with exercise and ACE gene insertion/deletion polymorphism: A randomized controlled trial with losartan. Circulation 103: 226-230, 2001.
216. Neale MC, Boker SM, Xie G, Maes HH. Mx: Statistical Modeling. Richmond, VA: Virginia Commonwealth University Department of Psychiatry, 2002.
217. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35, 2010.
218. Niemi AK, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 13: 965-969, 2005.
219. Noble D. Modeling the heart-from genes to cells to the whole organ. Science 295: 1678-1682, 2002.
220. Norman B, Esbjornsson M, Rundqvist H, Osterlund T, von Walden F, Tesch PA. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol 106: 959-965, 2009.
221. Norrbom J, Sundberg CJ, Ameln H, Kraus WE, Jansson E, Gustafsson T. PGC-1alpha mRNA expression is influenced by metabolic perturbation in exercising human skeletal muscle. J Appl Physiol 96: 189-194, 2004.
222. Norrbom J,Wallman SE, Gustafsson T, Rundqvist H, Jansson E, Sundberg CJ. Training response of mitochondrial transcription factors in human skeletal muscle. Acta Physiol (Oxf) 198: 71-79.
223. Olfert IM, Howlett RA, Tang K, Dalton ND, Gu Y, Peterson KL, Wagner PD, Breen EC. Muscle-specific VEGF deficiency greatly reduces exercise endurance in mice. J Physiol 587: 1755-1767, 2009.
224. Olson EN,Williams RS. Calcineurin signaling and muscle remodeling. Cell 101: 689-692, 2000.
225. Ookawara T, Dave V, Willems P, Martin JJ, de Barsy T, Matthys E, Yoshida A. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. Arch Biochem Biophys 327: 35-40, 1996.
226. Osborne KA, Robichon A, Burgess E, Butland S, Shaw RA, Coulthard A, Pereira HS, Greenspan RJ, Sokolowski MB. Natural behavior polymorphism due to a cGMP-dependent protein kinase of Drosophila. Science 277: 834-836, 1997.
227. Osokine I, Hsu R, Loeb GB, McManus MT. Unintentional miRNA ablation is a risk factor in gene knockout studies: A short report. PLoS Genet 4: e34, 2008.
228. Ostrowski K, Hermann C, Bangash A, Schjerling P, Nielsen JN, Pedersen BK. A trauma-like elevation of plasma cytokines in humans in response to treadmill running. J Physiol 513 (Pt 3): 889-894, 1998.
229. Palmer LJ, Jacobs KB, Elston RC. Haseman and Elston revisited: The effects of ascertainment and residual familial correlations on power to detect linkage. Genet Epidemiol 19: 456-460, 2000.
230. Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 14: 3079-3088, 2005.
231. Pantoja-Martinez J, Navarro Fernandez-Balbuena C, Gormaz-Moreno M, Quintans-Castro B, Esparza-Sanchez MA, Bonet-Arzo J. Myoadenylate deaminase deficiency in a child with myalgias induced by physical exercise. Rev Neurol 39: 431-434, 2004.
232. Papadimitriou ID, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. The ACTN3 gene in elite Greek track and field athletes. Int J Sports Med 29: 352-355, 2008.
233. Pedersen BK, Steensberg A, Fischer C, Keller C, Keller P, Plomgaard P, Wolsk-Petersen E, Febbraio M. The metabolic role of IL6 produced during exercise: Is IL6 an exercise factor? Proc Nutr Soc 63: 263-267, 2004.
234. Peeters MW, Thomis MA, Beunen GP, Malina RM. Genetics and sports: An overview of the pre-molecular biology era. Med Sport Sci 54: 28-42, 2009.
235. Perusse L, Gagnon J, Province MA, Rao DC, Wilmore JH, Leon AS, Bouchard C, Skinner JS. Familial aggregation of submaximal aerobic performance in the HERITAGE Family study. Med Sci Sports Exerc 33: 597-604, 2001.
236. Perusse L, Leblanc C, Bouchard C. Familial resemblance in lifestyle components: Results from the Canada Fitness Survey. Can J Public Health 79: 201-205, 1988a.
237. Perusse L, Leblanc C, Bouchard C. Inter-generation transmission of physical fitness in the Canadian population. Can J Sport Sci 13: 8-14, 1988b.
238. Perusse L, Lortie G, Leblanc C, Tremblay A, Theriault G, Bouchard C. Genetic and environmental sources of variation in physical fitness. Ann Hum Biol 14: 425-434, 1987.
239. Perusse L, Tremblay A, Leblanc C, Bouchard C. Genetic and environmental influences on level of habitual physical activity and exercise participation. Am J Epidemiol 129: 1012-1022, 1989.
240. Petersen EW, Carey AL, Sacchetti M, Steinberg GR, Macaulay SL, Febbraio MA, Pedersen BK. Acute IL6 treatment increases fatty acid turnover in elderly humans in vivo and in tissue culture in vitro. Am J Physiol Endocrinol Metab 288: E155-E162, 2005.
241. Petrella JK, Kim JS, Mayhew DL, Cross JM, Bamman MM. Potent myofiber hypertrophy during resistance training in humans is associated with satellite cell-mediated myonuclear addition: A cluster analysis. J Appl Physiol 104: 1736-1742, 2008.
242. Pette D, Vrbova G. Adaptation of mammalian skeletal muscle fibers to chronic electrical stimulation. Rev Physiol Biochem Pharmacol 120: 115-202, 1992.
243. Pietilainen KH, Bergholm R, Rissanen A, Kaprio J, Hakkinen AM, Sattar N, Yki-Jarvinen H. Effects of acquired obesity on endothelial function in monozygotic twins. Obesity (Silver Spring) 14: 826-837, 2006.
244. Pietilainen KH, Kannisto K, Korsheninnikova E, Rissanen A, Kaprio J, Ehrenborg E, Hamsten A, Yki-Jarvinen H. Acquired obesity increases CD68 and tumor necrosis factor-alpha and decreases adiponectin gene expression in adipose tissue: A study in monozygotic twins. J Clin Endocrinol Metab 91: 2776-2781, 2006.
245. Pietilainen KH, Naukkarinen J, Rissanen A, Saharinen J, Ellonen P, Keranen H, Suomalainen A, Gotz A, Suortti T, Yki-Jarvinen H, Oresic M, Kaprio J, Peltonen L. Global transcript profiles of fat inmonozygotic twins discordant for BMI: Pathways behind acquired obesity. PLoS Medicine 5: 472-483, 2008.
246. Pietilainen KH, Rissanen A, Kaprio J, Makimattila S, Hakkinen AM, Westerbacka J, Sutinen J, Vehkavaara S, Yki-Jarvinen H. Acquired obesity is associated with increased liver fat, intra-abdominal fat, and insulin resistance in young adult monozygotic twins. Am J Physiol Endocrinol Metab 288: E768-E774, 2005.
247. Pietilainen KH, Sysi-Aho M, Rissanen A, Seppanen-Laakso T, Yki-Jarvinen H, Kaprio J, Oresic M. Acquired obesity is associated with changes in the serum lipidomic profile independent of genetic effects-a monozygotic twin study. PLoS ONE 2: e218, 2007.
248. Pollock ML, Franklin BA, Balady GJ, Chaitman BL, Fleg JL, Fletcher B, Limacher M, Pina IL, Stein RA, Williams M, Bazzarre T. AHA Science Advisory. Resistance exercise in individuals with and without cardiovascular disease: Benefits, rationale, safety, and prescription: An advisory from the Committee on Exercise, Rehabilitation, and Prevention, Council on Clinical Cardiology, American Heart Association; Position paper endorsed by the American College of Sports Medicine. Circulation 101: 828-833, 2000.
249. Potthoff MJ, Wu H, Arnold MA, Shelton JM, Backs J, McAnally J, Richardson JA, Bassel-Duby R, Olson EN. Histone deacetylase degradation and MEF2 activation promote the formation of slow-twitch myofibers. J Clin Invest 117: 2459-2467, 2007.
250. Province MA, Rice TK, Borecki IB, Gu C, Kraja A, Rao DC. Multivariate and multilocus variance components method, based on structural relationships to assess quantitative trait linkage via SEGPATH. Genet Epidemiol 24: 128-138, 2003.
251. Prud'homme D, Bouchard C, Leblanc C, Landry F, Fontaine E. Sensitivity of maximal aerobic power to training is genotype-dependent. Med Sci Sports Exerc 16: 489-493, 1984.
252. Pulkes T, Liolitsa D, Eunson LH, RoseM, Nelson IP, Rahman S, Poulton J, Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. NeuromusculDisord 15: 364-371, 2005.
253. Pulkes T, Siddiqui A, Morgan-Hughes JA, Hanna MG. A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance. Neurology 55: 1210-1212, 2000.
254. Purcell S, Neale B, Todd-Brown K, Thomas L, FerreiraMA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575, 2007.
255. Qi L, van Dam RM, Meigs JB, Manson JE, Hunter D, Hu FB. Genetic variation in IL6 gene and type 2 diabetes: Tagging-SNP haplotype analysis in large-scale case-control study and meta-analysis. Hum Mol Genet 15: 1914-1920, 2006.
256. Radom-Aizik S, Hayek S, Shahar I, Rechavi G, Kaminski N, Ben-Dov I. Effects of aerobic training on gene expression in skeletal muscle of elderly men. Med Sci Sports Exerc 37: 1680-1696, 2005.
257. Rankinen T,An P, Perusse L, Rice T, Chagnon YC,Gagnon J, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. Genome-wide linkage scan for exercise stroke volume and cardiac output in the HERITAGE Family Study. Physiol Genomics 10: 57-62, 2002.
258. Rankinen T,Argyropoulos G, Rice T, RaoDC, Bouchard C. CREB1 is a strong genetic predictor of the variation in exercise heart rate response to regular exercise: The HERITAGE Family Study. Circ Cardiovasc Genet 3: 294-299, 2010.
259. Rankinen T, Bouchard C. Genes, Genetic Heterogeneity, and Exercise Phenotypes. In: Mooren FC, Volker K, editors. Molecular and Cellular Exercise Physiology. Champaign, IL: Human Kinetics, 2005, p. 39-54.
260. Rankinen T, Bouchard C. Genetics of physical activity. In: Clement K, Sorensen TIA, editors. Obesity. Genomics and Postgenomics. New York, NY: Informa Healthcare USA, Inc, 2008, p. 277-286.
261. Rankinen T, Bouchard C, Rao DC. Familial resemblance for muscle phenotypes: The HERITAGE family study. Med Sci Sports Exer 37: 2017-2017, 2005.
262. Rankinen T, Gagnon J, Perusse L, Chagnon Y, Rice T, Leon A, Skinner J, Wilmore J, Rao D, Bouchard C. AGT M235T and ACE ID polymorphisms and exercise blood pressure in the HERITAGE Family Study. Am J Physiol Heart Circ Physiol 279: H368-H374, 2000.
263. Rankinen T, Roth SM, Bray MS, Loos R, Perusse L, Wolfarth B, Hagberg JM, Bouchard C. Advances in exercise, fitness, and performance genomics. Med Sci Sports Exerc 42: 835-846, 2010.
264. Rauramaa R, Kuhanen R, Lakka TA, Vaisanen SB, Halonen P, Alen M, Rankinen T, Bouchard C. Physical exercise and blood pressure with reference to the angiotensinogen M235T polymorphism. Physiol Genomics 10: 71-77, 2002.
265. Reynisdottir I, Thorleifsson G, Benediktsson R, Sigurdsson G, Emilsson V, Einarsdottir AS, Hjorleifsdottir EE, Orlygsdottir GT, Bjornsdottir GT, Saemundsdottir J, Halldorsson S, Hrafnkelsdottir S, Sigurjonsdottir SB, Steinsdottir S, Martin M, Kochan JP, Rhees BK, Grant SF, Frigge ML, Kong A, Gudnason V, Stefansson K, Gulcher JR. Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2. Am J Hum Genet 73: 323-335, 2003.
266. Rezende EL, Garland T Jr, Chappell MA, Malisch JL, Gomes FR. Maximum aerobic performance in lines of Mus selected for highwheelrunning activity: Effects of selection, oxygen availability and the minimuscle phenotype. J Exp Biol 209: 115-127, 2006.
267. Rezende EL, Gomes FR, Malisch JL, Chappell MA, Garland T Jr. Maximal oxygen consumption in relation to subordinate traits in lines of house mice selectively bred for high voluntary wheel running. J Appl Physiol 101: 477-485, 2006.
268. Richardson RS, Wagner H, Mudaliar SR, Henry R, Noyszewski EA, Wagner PD. Human VEGF gene expression in skeletal muscle: Effect of acute normoxic and hypoxic exercise. Am J Physiol 277: H2247-H2252, 1999.
269. Richardson RS,Wagner H,Mudaliar SR, Saucedo E, Henry R, Wagner PD. Exercise adaptation attenuates VEGF gene expression in human skeletal muscle. Am J Physiol Heart Circ Physiol 279: H772-H778, 2000.
270. Rico-Sanz J, Rankinen T, Joanisse DR, Leon AS, Skinner JS,Wilmore JH, Rao DC, Bouchard C. Familial resemblance for muscle phenotypes in the HERITAGE Family Study. Med Sci Sports Exerc 35: 1360-1366, 2003.
271. Rico-Sanz J, Rankinen T, Rice T, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. Quantitative trait loci for maximal exercise capacity phenotypes and their responses to training in the HERITAGE Family Study. Physiol Genomics 16: 256-260, 2004.
272. Rios J, Stein E, Shendure J, Hobbs HH, Cohen JC. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet 19: 4313-4318, 2010.
273. Risch N. Linkage strategies for genetically complex traits. I.Multilocus models. Am J Hum Genet 46: 222-228, 1990.
274. Rivadeneira F, Styrkarsdottir U, Estrada K, Halldorsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, Spector T, Kiel DP, Stefansson K, Ioannidis JP, Uitterlinden AG. Twenty bone-mineraldensity loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet 41: 1199-1206, 2009.
275. Ronnemaa T, Koskenvuo M, Marniemi J, Koivunen T, Sajantila A, Rissanen A, Kaitsaari M, Bouchard C, Kaprio J. Glucose metabolism in identical twins discordant for obesity. The critical role of visceral fat. J Clin Endocrinol Metab 82: 383-387, 1997.
276. Ronnemaa T, Marniemi J, Savolainen MJ, Kesaniemi YA, Ehnholm C, Bouchard C, Koskenvuo M. Serum lipids, lipoproteins, and lipid metabolizing enzymes in identical twins discordant for obesity. J Clin Endocrinol Metab 83: 2792-2799, 1998.
277. Rose AJ, Kiens B, Richter EA. Ca2+-calmodulin-dependent protein kinase expression and signalling in skeletal muscle during exercise. J Physiol 574: 889-903, 2006.
278. RosenMR, Cohen IS. Cardiac memory. .. new insights into molecular mechanisms. J Physiol 570: 209-218, 2006.
279. Roth SM, Walsh S, Liu D, Metter EJ, Ferrucci L, Hurley BF. The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet 16: 391-394, 2008.
280. Rung J, Cauchi S, Albrechtsen A, Shen L, Rocheleau G, Cavalcanti-ProencaC,Bacot F,Balkau B, Belisle A, Borch-Johnsen K, Charpentier G, Dina C, Durand E, Elliott P, Hadjadj S, Jarvelin MR, Laitinen J, Lauritzen T, Marre M, Mazur A, Meyre D, Montpetit A, Pisinger C, Posner B, Poulsen P, Pouta A, Prentki M, Ribel-Madsen R, Ruokonen A, Sandbaek A, Serre D, Tichet J, VaxillaireM,Wojtaszewski JF, Vaag A, Hansen T, Polychronakos C, Pedersen O, Froguel P, Sladek R. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet 41: 1110-1115, 2009.
281. Sandilands AJ, Parameshwar J, Large S, Brown MJ, O'Shaughnessy KM. Confirmation of a role for the 389R>G beta-1 adrenoceptor polymorphism on exercise capacity in heart failure. Heart 91: 1613-1614, 2005.
282. Santiago C, Gonzalez-Freire M, Serratosa L, Morate FJ, Meyer T, Gomez-Gallego F, Lucia A. ACTN3 genotype in professional soccer players. Br J Sports Med 42: 71-73, 2008.
283. Saunders CJ, September AV, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD, Collins M. No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. Ann Hum Genet 71: 777-781, 2007.
284. Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson Bostrom K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Rastam L, Speliotes EK, TaskinenMR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjogren M, Sterner M, Surti A, SvenssonM, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316: 1331-1336, 2007.
285. Scheele C, Larsson O, Timmons JA. Using functional genomics to study PINK1 and metabolic physiology. Methods Enzymol 457: 211-229, 2009.
286. Schjerve IE, Tyldum GA, Tjonna AE, Stolen T, Loennechen JP,Hansen HE, Haram PM, Heinrich G, Bye A, Najjar SM, Smith GL, Slordahl SA, Kemi OJ,Wisloff U. Both aerobic endurance and strength training programmes improve cardiovascular health in obese adults. Clin Sci (Lond) 115: 283-293, 2008.
287. Schmutz S, Dapp C, Wittwer M, Vogt M, Hoppeler H, Fluck M. Endurance training modulates the muscular transcriptome response to acute exercise. Pflugers Arch 451: 678-687, 2006.
288. Scholte HR, Van Coster RN, de Jonge PC, Poorthuis BJ, Jeneson JA, Andresen BS, Gregersen N, de Klerk JB, Busch HF. Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: Clinical and biochemical differences with the fatal cardiac phenotype. Neuromuscul Disord 9: 313-319, 1999.
289. SchuelkeM, Krude H, Finckh B, Mayatepek E, Janssen A, Schmelz M, Trefz F, Trijbels F, Smeitink J. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol 51: 388-392, 2002.
290. Schuelke M, Wagner KR, Stolz LE, Hubner C, Riebel T, Komen W, Braun T, Tobin JF, Lee SJ. Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med 350: 2682-2688, 2004.
291. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316: 1341-1345, 2007.
292. Scott RA, Irving R, Irwin L, Morrison E, Charlton V, Austin K, Tladi D, Deason M, Headley SA, Kolkhorst FW, Yang N, North K, Pitsiladis YP. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Med Sci Sports Exerc 42: 107-112, 2010.
293. Segal-Lieberman G, Bradley RL, Kokkotou E, CarlsonM, Trombly DJ, Wang X, Bates S, Myers MG, Jr, Flier JS, Maratos-Flier E. Melaninconcentrating hormone is a critical mediator of the leptin-deficient phenotype. Proc Natl Acad Sci U S A 100: 10085-10090, 2003.
294. Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am J Med Genet A 137: 170-175, 2005.
295. Shaham O, Wei R, Wang TJ, Ricciardi C, Lewis GD, Vasan RS, Carr SA, Thadhani R, Gerszten RE, Mootha VK. Metabolic profiling of the human response to a glucose challenge reveals distinct axes of insulin sensitivity. Mol Syst Biol 4: 214, 2008.
296. Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM, Eng CM, Cowan TM, Plotz PH. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII-and their population frequency. Am J Hum Genet 55: 305-313, 1994.
297. Silventoinen K, Magnusson PK, Tynelius P, Kaprio J, Rasmussen F. Heritability of body size and muscle strength in young adulthood: A study of one million Swedish men. Genet Epidemiol 32: 341-349, 2008.
298. Simoneau JA, Bouchard C. Human variation in skeletal muscle fibertype proportion and enzyme activities. Am J Physiol 257: E567-E572, 1989.
299. Simoneau JA, Bouchard C. Genetic determinism of fiber type proportion in human skeletal muscle. FASEB J 9: 1091-1095, 1995.
300. Simoneau JA, Lortie G, Boulay MR, Marcotte M, Thibault MC, Bouchard C. Inheritance of human skeletal muscle and anaerobic capacity adaptation to high-intensity intermittent training. Int J Sports Med 7: 167-171, 1986.
301. Simoneau JA, Lortie G, Boulay MR, Thibault MC, Bouchard C. Repeatability of fibre type and enzyme activity measurements in human skeletal muscle. Clin Physiol 6: 347-356, 1986.
302. Simonen RL, Perusse L, Rankinen T, Rice T, Rao DC, Bouchard C. Familial aggregation of physical activity levels in the Quebec family study. Med Sci Sports Exer 34: 1137-1142, 2002.
303. Simonen RL, Rankinen T, Perusse L, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bouchard C. A dopamine D2 receptor gene polymorphism and physical activity in two family studies. Physiol Behav 78: 751-757, 2003.
304. Simonen RL, Rankinen T, Perusse L, Rice T, Rao DC, Chagnon Y, Bouchard C. Genome-wide linkage scan for physical activity levels in the Quebec Family study. Med Sci Sports Exerc 35: 1355-1359, 2003.
305. Sladek R, Rocheleau G, Rung J, Dina C, Shen L, Serre D, Boutin P, Vincent D, Belisle A, Hadjadj S, Balkau B, Heude B, Charpentier G, Hudson TJ, Montpetit A, Pshezhetsky AV, Prentki M, Posner BI, Balding DJ, Meyre D, Polychronakos C, Froguel P. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445: 881-885, 2007.
306. Slentz CA, Tanner CJ, Bateman LA, Durheim MT, Huffman KM, Houmard JA, Kraus WE. Effects of exercise training intensity on pancreatic beta-cell function. Diabetes Care 32: 1807-1811, 2009.
307. Sonne MP, Scheede-Bergdahl C, Olsen DB, Hojbjerre L, Alibegovic A, Nielsen NB, Stallknecht B, Helge JW, Vaag A, Dela F. Effects of physical training on endothelial function and limb blood flow in type 2 diabetes. Appl Physiol Nutr Metab 32: 936-941, 2007.
308. Spencer-Jones NJ, Ge D, Snieder H, Perks U, Swaminathan R, Spector TD, Carter ND, O'Dell SD. AMP-kinase alpha2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoproteincholesterol and high-density lipoprotein-cholesterol in normal women. J Med Genet 43: 936-942, 2006.
309. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52: 506-516, 1993.
310. Spielmann N, Leon AS, Rao DC, Rice T, Skinner JS, Rankinen T, Bouchard C. Genome-wide linkage scan for submaximal exercise heart rate in the HERITAGE family study. Am J Physiol Heart Circ Physiol 293: H3366-H3371, 2007.
311. Steensberg A, Fischer CP, Sacchetti M, Keller C, Osada T, Schjerling P, van Hall G, Febbraio MA, Pedersen BK. Acute interleukin-6 administration does not impair muscle glucose uptake or whole-body glucose disposal in healthy humans. J Physiol 548: 631-638, 2003.
312. Steensberg A, Keller C, Hillig T, Frosig C, Wojtaszewski JF, Pedersen BK, Pilegaard H, Sander M. Nitric oxide production is a proximal signaling event controlling exercise-induced mRNA expression in human skeletal muscle. FASEB J 21: 2683-2694, 2007.
313. Steensberg A, van Hall G, Osada T, Sacchetti M, Saltin B, Klarlund Pedersen B. Production of interleukin-6 in contracting human skeletal muscles can account for the exercise-induced increase in plasma interleukin-6. J Physiol 529 (Pt 1): 237-242, 2000.
314. Stefan N, Vozarova B, Del Parigi A, Ossowski V, Thompson DB, Hanson RL, Ravussin E, Tataranni PA. The Gln223Arg polymorphism of the leptin receptor in Pima Indians: Influence on energy expenditure, physical activity and lipid metabolism. Int J Obes Relat Metab Disord 26: 1629-1632, 2002.
315. Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, Walters GB, Styrkarsdottir U, Gretarsdottir S, Emilsson V, Ghosh S, Baker A, Snorradottir S, Bjarnason H, Ng MC, Hansen T, BaggerY,Wilensky RL, Reilly MP,Adeyemo A, Chen Y, Zhou J, Gudnason V, Chen G, Huang H, Lashley K, Doumatey A, SoWY, Ma RC, Andersen G, Borch-Johnsen K, Jorgensen T, van Vliet-Ostaptchouk JV, Hofker MH,Wijmenga C, Christiansen C, Rader DJ, Rotimi C, Gurney M, Chan JC, Pedersen O, Sigurdsson G, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 39: 770-775, 2007.
316. Stephens JW, Hurel SJ, Lowe GD, Rumley A, Humphries SE. Association between plasma IL6, the IL6 -174G>C gene variant and the metabolic syndrome in type 2 diabetes mellitus. Mol Genet Metab 90: 422-428, 2007.
317. Stephens NA, Gallagher IJ, Rooyackers O, Skipworth RJ, Tan BH, Marstrand T, Ross JA, Guttridge DC, Lundell L, Fearon KC, Timmons JA. Using transcriptomics to identify and validate novel biomarkers of human skeletal muscle cancer cachexia. Genome Med 2: 1, 2010.
318. Stepto NK, CoffeyVG,Carey AL, Ponnampalam AP, CannyBJ, Powell D, Hawley JA. Global gene expression in skeletal muscle from welltrained strength and endurance athletes. Med Sci Sports Exerc 41: 546-565, 2009.
319. Strachan T, Read AP. Human Molecular Genetics. New York: Garland Science/Taylor & Francis Group, 2011.
320. Stubbe JH, Boomsma DI, Vink JM, Cornes BK, Martin NG, Skytthe A, Kyvik KO, Rose RJ, Kujala UM, Kaprio J, Harris JR, Pedersen NL, Hunkin J, Spector TD, de Geus EJ. Genetic influences on exercise participation in 37.051 twin pairs from seven countries. PLoS ONE 1: e22, 2006.
321. Sugie H, Sugie Y, Ito M, Fukuda T. A novel missense mutation (837T->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. J Child Neurol 13: 95-97, 1998.
322. Sundet JM, Magnus P, Tambs K. The heritability of maximal aerobic power:Astudy of Norwegian twins. Scand JMed Sci Sports 4: 181-185, 1994.
323. Swan H, Piippo K,Viitasalo M, Heikkila P, Paavonen T,Kainulainen K, Kere J, Keto P, Kontula K, Toivonen L. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 34: 2035-2042, 1999.
324. Taggart RT, Smail D, Apolito C, Vladutiu GD. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat 13: 210-220, 1999.
325. Takeda H, Charlier C, Farnir F, Georges M. Demonstrating polymorphic miRNA-mediated gene regulation in vivo:Application to the g+6223G->A mutation of Texel sheep. RNA 16: 1854-1863, 2010.
326. Tang W, Arnett DK, Devereux RB, Panagiotou D, Province MA, Miller MB, de Simone G, Gu C, Ferrell RE. Identification of a novel 5-base pair deletion in calcineurin B (PPP3R1) promoter region and its association with left ventricular hypertrophy. Am Heart J 150: 845-851, 2005.
327. Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4: 314-320, 1993.
328. Teran-Garcia M, Rankinen T, Koza RA, Rao DC, Bouchard C. Endurance training-induced changes in insulin sensitivity and gene expression. Am J Physiol Endocrinol Metab 288: E1168-E1178, 2005.
329. Teran-Garcia M, Rankinen T, Rice T, Leon AS, Rao DC, Skinner JS, Bouchard C. Variations in the four and a half LIM domains 1 gene (FHL1) are associated with fasting insulin and insulin sensitivity responses to regular exercise. Diabetologia 50: 1858-1866, 2007.
330. Thomas KR, Capecchi MR. Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature 346: 847-850, 1990.
331. Thompson PD, Tsongalis GJ, Seip RL, Bilbie C, Miles M, Zoeller R, Visich P, Gordon P, Angelopoulos TJ, Pescatello L, Bausserman L, Moyna N. Apolipoprotein E genotype and changes in serum lipids and maximal oxygen uptake with exercise training. Metabolism 53: 193-202, 2004.
332. Tiainen KM, Perola M, Kovanen VM, Sipila S, Tuononen KA, Rikalainen K, KauppinenMA,Widen EI, Kaprio J, Rantanen T, Kujala UM. Genetics of maximal walking speed and skeletal muscle characteristics in older women. Twin Res Hum Genet 11: 321-334, 2008.
333. Timmons JA, Jansson E, Fischer H, Gustafsson T, Greenhaff PL, Ridden J, Rachman J, Sundberg CJ. Modulation of extracellular matrix genes reflects the magnitude of physiological adaptation to aerobic exercise training in humans. BMC Biol 3: 19, 2005.
334. Timmons JA, Knudsen S, Rankinen T, Koch LG, Sarzynski M, Jensen T, Keller P, Scheele C, Vollaard NB, Nielsen S, Akerstrom T, Mac-Dougald OA, Jansson E, Greenhaff PL, Tarnopolsky MA, van Loon LJ, Pedersen BK, Sundberg CJ,Wahlestedt C, Britton SL, Bouchard C. Using molecular classification to predict gains in maximal aerobic capacity following endurance exercise training in humans. J Appl Physiol 108: 1487-1496, 2010.
335. Timmons JA, LarssonO, Jansson E, Fischer H, Gustafsson T,Greenhaff PL, Ridden J, Rachman J, Peyrard-Janvid M, Wahlestedt C, Sundberg CJ. Human muscle gene expression responses to endurance training provide a novel perspective on Duchenne muscular dystrophy. FASEB J 19: 750-760, 2005.
336. Timmons JA, Norrbom J, Scheele C, Thonberg H,Wahlestedt C, Tesch P. Expression profiling following local muscle inactivity in humans provides new perspective on diabetes-related genes. Genomics 87: 165-172, 2006.
337. Timmons JA, Poucher SM, Constantin-Teodosiu D, Macdonald IA, Greenhaff PL. Metabolic responses from rest to steady state determine contractile function in ischemic skeletal muscle. Am J Physiol 273: E233-238, 1997.
338. Timmons JA, Poucher SM, Constantin-Teodosiu D, Worrall V, Mac-Donald IA, Greenhaff PL. Metabolic responses of canine gracilis muscle during contraction with partial ischemia. Am J Physiol 270: E400-E406, 1996.
339. Timmons JA, Wennmalm K, Larsson O, Walden TB, Lassmann T, Petrovic N, Hamilton DL, Gimeno RE, Wahlestedt C, Baar K, Nedergaard J, Cannon B. Myogenic gene expression signature establishes that brown and white adipocytes originate from distinct cell lineages. Proc Natl Acad Sci U S A 104: 4401-4406, 2007.
340. Torkamani A, Topol EJ, Schork NJ. Pathway analysis of seven common diseases assessed by genome-wide association. Genomics 92: 265-272, 2008.
341. Toscano A, Tsujino S, Vita G, Shanske S, Messina C, Dimauro S. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred. Muscle Nerve 19: 1134-1137, 1996.
342. Tsujino S, Servidei S, Tonin P, Shanske S, Azan G, DiMauro S. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Am J Hum Genet 54: 812-819, 1994.
343. Tsujino S, Shanske S, Brownell AK, Haller RG, DiMauro S. Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. Ann Neurol 36: 661-665, 1994.
344. Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 329: 241-245, 1993.
345. Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency. Muscle Nerve 3: S45-S49, 1995.
346. Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet 52: 472-477, 1993.
347. Tsujino S, Tonin P, Shanske S, Nohria V, Boustany RM, Lewis D, Chen YT, DiMauro S. A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). Ann Neurol 35: 349-353, 1994.
348. Tuomilehto J, Lindstrom J, Eriksson JG, Valle TT, Hamalainen H, Ilanne-Parikka P, Keinanen-Kiukaanniemi S, Laakso M, Louheranta A, Rastas M, Salminen V, Uusitupa M. Prevention of type 2 diabetes mellitus by changes in lifestyle among subjects with impaired glucose tolerance. N Engl J Med 344: 1343-1350, 2001.
349. ul Haque MF, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nat Genet 20: 157-162, 1998.
350. Uusitupa M, Peltonen M, Lindstrom J, Aunola S, Ilanne-Parikka P, Keinanen-Kiukaanniemi S, Valle TT, Eriksson JG, Tuomilehto J. Tenyear mortality and cardiovascular morbidity in the Finnish Diabetes Prevention Study-secondary analysis of the randomized trial. PLoS One 4: e5656, 2009.
351. van Hall G, Steensberg A, Fischer C, Keller C, Moller K, Moseley P, Pedersen BK. Interleukin-6markedly decreases skeletal muscle protein turnover and increases nonmuscle amino acid utilization in healthy individuals. J Clin Endocrinol Metab 93: 2851-2858, 2008.
352. van Hall G, Steensberg A, Sacchetti M, Fischer C, Keller C, Schjerling P, Hiscock N, Moller K, Saltin B, Febbraio MA, Pedersen BK. Interleukin-6 stimulates lipolysis and fat oxidation in humans. J Clin Endocrinol Metab 88: 3005-3010, 2003.
353. Vaxillaire M, Veslot J, Dina C, Proenca C, Cauchi S, Charpentier G, Tichet J, Fumeron F,Marre M,MeyreD,Balkau B, Froguel P. Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study. Diabetes 57: 244-254, 2008.
354. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, ZinderN, LevineAJ, Roberts RJ, SimonM, Slayman C,Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S,Winn-Deen E,Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B,Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R,Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, DombroskiM, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D,MajorosW,McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, PetersonM, RoweW, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X. The sequence of the human genome. Science 291: 1304-1351, 2001.
355. Verhaaren HA, Schieken RM,Mosteller M, Hewitt JK, Eaves LJ,Nance WE. Bivariate genetic analysis of left ventricular mass and weight in pubertal twins (the Medical College of Virginia twin study). Am J Cardiol 68: 661-668, 1991.
356. Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC. Novel mutations in three patients with LGMD2C with phenotypic differences. Pediatr Neurol 30: 291-294, 2004.
357. Vincent B, De Bock K, RamaekersM, Van Den Eede E, Van Leemputte M, Hespel P, ThomisMA. ACTN3(R577X) genotype is associated with fiber type distribution. Physiol Genomics 32: 58-63, 2007.
358. Vissing J, Salamon MB, Arlien-Soborg P, Norby S, Manta P, DiMauro S, Schmalbruch H. A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance. Neurology 50: 1875-1878, 1998.
359. Vissing K, Andersen JL, Schjerling P. Are exercise-induced genes induced by exercise? FASEB J 19: 94-96, 2005.
360. Vives-Bauza C, Gamez J, Roig M, Briones P, Cervera C, Solano A, Montoya J, Andreu AL. Exercise intolerance resulting from a musclerestricted mutation in the mitochondrial tRNA(Leu (CUN)) gene. Ann Med 33: 493-496, 2001.
361. Vladutiu GD, Bennett MJ, Fisher NM, Smail D, Boriack R, Leddy J, PendergastDR. Phenotypic variability among first-degree relativeswith carnitine palmitoyltransferase II deficiency. Muscle Nerve 26: 492-498, 2002.
362. Vladutiu GD, Bennett MJ, Smail D, Wong LJ, Taggart RT, Lindsley HB. Avariable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. MolGenet Metab 70: 134-141, 2000.
363. Vollaard NB, Constantin-Teodosiu D, Fredriksson K, Rooyackers O, Jansson E, Greenhaff PL, Timmons JA, Sundberg CJ. Systematic analysis of adaptations in aerobic capacity and submaximal energy metabolism provides a unique insight into determinants of human aerobic performance. J Appl Physiol 106: 1479-1486, 2009.
364. Vorgerd M, Karitzky J, Ristow M, Van Schaftingen E, Tegenthoff M, Jerusalem F, Malin JP. Muscle phosphofructokinase deficiency in two generations. J Neurol Sci 141: 95-99, 1996.
365. Wagoner LE, Craft LL, Zengel P, McGuire N, Rathz DA, Dorn GW IInd, Liggett SB. Polymorphisms of the beta1-adrenergic receptor predict exercise capacity in heart failure. Am Heart J 144: 840-846, 2002.
366. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-543, 2008.
367. Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmuller H, Chinnery PF, Klopstock T, Horvath R. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol 257: 1517-1523, 2010.
368. Wang K, Dickson SP, Stolle CA,Krantz ID, Goldstein DB,Hakonarson H. Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet 86: 730-742, 2010.
369. Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab 84: 75-82, 2005.
370. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA,Moss AJ, Atkinson DL, Landes GM, Connors TD, KeatingMT. Positional cloning of a novel potassium channel gene: KVLQT1mutations cause cardiac arrhythmias. Nat Genet 12: 17-23, 1996.
371. Ways JA, Cicila GT, Garrett MR, Koch LG. A genome scan for loci associated with aerobic running capacity in rats. Genomics 80: 13-20, 2002.
372. Ways JA, Smith BM, Barbato JC, Ramdath RS, Pettee KM, DeRaedt SJ, Allison DC, Koch LG, Lee SJ, Cicila GT. Congenic strains confirm aerobic running capacity quantitative trait loci on rat chromosome 16 and identify possible intermediate phenotypes. Physiol Genomics 29: 91-97, 2007.
373. Wehner M, Clemens PR, Engel AG, Kilimann MW. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Human Molecular Genetics 3: 1983-1987, 1994.
374. West DW, Kujbida GW, Moore DR, Atherton P, Burd NA, Padzik JP, De Lisio M, Tang JE, Parise G, Rennie MJ, Baker SK, Phillips SM. Resistance exercise-induced increases in putative anabolic hormones do not enhance muscle protein synthesis or intracellular signalling in young men. J Physiol 587: 5239-5247, 2009.
375. Widegren U, Jiang XJ, Krook A, Chibalin AV, Bjornholm M, Tally M, Roth RA, Henriksson J, Wallberg-henriksson H, Zierath JR. Divergent effects of exercise on metabolic and mitogenic signaling pathways in human skeletal muscle. FASEB J 12: 1379-1389, 1998.
376. Wilmore JH, Stanforth PR, Gagnon J, Rice T, Mandel S, Leon AS, Rao DC, Skinner JS, Bouchard C. Cardiac output and stroke volume changes with endurance training: The HERITAGE Family Study. Med Sci Sports Exerc 33: 99-106, 2001.
377. Wilmore JH, Stanforth PR, Gagnon J, Rice T, Mandel S, Leon AS, Rao DC, Skinner JS, Bouchard C. Heart rate and blood pressure changes with endurance training: TheHERITAGE Family Study. Med Sci Sports Exerc 33: 107-116, 2001.
378. Winnicki M, Accurso V, Hoffmann M, Pawlowski R, Dorigatti F, Santonastaso M, Longo D, Krupa-Wojciechowska B, Jeunemaitre X, Pessina AC, Somers VK, Palatini P. Physical activity and angiotensinconverting enzyme gene polymorphism in mild hypertensives. Am J Med Genet A 125: 38-44, 2004.
379. Wisloff U, Nilsen TI, Droyvold WB, Morkved S, Slordahl SA, Vatten LJ. A single weekly bout of exercise may reduce cardiovascular mortality: How little pain for cardiac gain? 'The HUNT study, Norway'. Eur J Cardiovasc Prev Rehabil 13: 798-804, 2006.
380. Wittwer M, Billeter R, Hoppeler H, Fluck M. Regulatory gene expression in skeletal muscle of highly endurance-trained humans. Acta Physiol Scand 180: 217-227, 2004.
381. Wu H, Kanatous SB, Thurmond FA,Gallardo T, Isotani E, Bassel-Duby R, Williams RS. Regulation of mitochondrial biogenesis in skeletal muscle by CaMK. Science 296: 349-352, 2002.
382. Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73: 627-631, 2003.
383. Yang N, MacArthur DG, Wolde B, Onywera VO, Boit MK, Lau SY, Wilson RH, Scott RA, Pitsiladis YP, North K. The ACTN3 R577X polymorphism in East andWest African athletes. Med Sci Sports Exerc 39: 1985-1988, 2007.
384. Yi X, Liang Y, Huerta-Sanchez E, Jin X, Cuo ZX, Pool JE, Xu X, Jiang H, Vinckenbosch N, Korneliussen TS, Zheng H, Liu T, He W, Li K, Luo R, Nie X, Wu H, Zhao M, Cao H, Zou J, Shan Y, Li S, Yang Q, Asan, Ni P, Tian G, Xu J, Liu X, Jiang T, Wu R, Zhou G, Tang M, Qin J, Wang T, Feng S, Li G, Huasang, Luosang J, Wang W, Chen F, Wang Y, Zheng X, Li Z, Bianba Z, Yang G, Wang X, Tang S, Gao G, Chen Y, Luo Z, Gusang L, Cao Z, Zhang Q, Ouyang W, Ren X, Liang H, Huang Y, Li J, Bolund L, Kristiansen K, Li Y, Zhang Y, Zhang X, Li R, Yang H, Nielsen R, Wang J. Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329: 75-78, 2010.
385. Yokomizo T, Hasegawa K, Ishitobi H, Osato M, Ema M, Ito Y, Yamamoto M, Takahashi S. Runx1 is involved in primitive erythropoiesis in the mouse. Blood 111: 4075-4080, 2008.
386. Zeggini E,Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS, McCarthy MI, Hattersley AT. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316: 1336-1341, 2007.
387. Zhang SJ, Truskey GA, Kraus WE. Effect of cyclic stretch on beta1Dintegrin expression and activation of FAK and RhoA. Am J Physiol 292: C2057-C2069, 2007.
388. Zhang Y, Proenca R, Maffei M, Barone M, Leopold L, Friedman JM. Positional cloning of the mouse obese gene and its human homologue. Nature 372: 425-432, 1994.
389. Zhou D, Shen Z, Strack AM, Marsh DJ, Shearman LP. Enhanced running wheel activity of both Mch1r- and Pmch-deficient mice. Regul Pept 124: 53-63, 2005.
390. Zisman A, Peroni OD, Abel ED,Michael MD,Mauvais-Jarvis F, Lowell BB, Wojtaszewski JF, Hirshman MF, Virkamaki A, Goodyear LJ, Kahn CR, Kahn BB. Targeted disruption of the glucose transporter 4 selectively in muscle causes insulin resistance and glucose intolerance. Nat Med 6: 924-928, 2000.