Genomic regions associated with kyphosis in swine

BMC Genetics

Volumn 11, Issue , 2010, Pages

  Lindholm Perry, Amanda K ^a   Rohrer, Gary A ^a   Kuehn, Larry A ^a   Keele, John W ^a   Holl, Justin W ^b   Shackelford, Steven D ^a   Wheeler, Tommy L ^a   Nonneman, Dan J ^a  

^a U S MEAT ANIMAL RESEARCH CENTER   (United States)

^b Smithfield Premium Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADAMTS1 PROTEIN; ADAMTS18 PROTEIN; CADHERIN; CADHERIN 7; CARTILAGE OLIGOMERIC MATRIX PROTEIN; CERBERUS 1 HOMOLOG PROTEIN; CULLIN; CULLIN 7; HISTONE ACETYLTRANSFERASE; HISTONE ACETYLTRANSFERASE 4; HOMEOBOX C6 PROTEIN; HOMEOBOX C8 PROTEIN; HOMEODOMAIN PROTEIN; LIX1L PROTEIN; MEMBRANE PROTEIN; POTASSIUM CHANNEL KCNN2; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PROTEASOME; PROTEASOME ALPHA TYPE 5; PROTEIN; RYANODINE RECEPTOR 1; SMALL CONDUCTANCE CALCIUM ACTIVATED POTASSIUM CHANNEL; SOLUTE CARRIER FAMILY 26 MEMBER 2; SOS PROTEIN; TRANSCRIPTION FACTOR RUNX2; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG; MICROSATELLITE DNA;

ARTICLE; BONE DEVELOPMENT; CHROMOSOME; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRAIT; GENOTYPE; KYPHOSIS; MICROSATELLITE MARKER; NONHUMAN; NUCLEOTIDE SEQUENCE; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; SWINE; ANIMAL; ANIMAL DISEASE; FEMALE; GENETICS; MALE; SWINE DISEASE;

ANIMALIA; SUIDAE; VERTEBRATA;

ANIMALS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; KYPHOSIS; MALE; MICROSATELLITE REPEATS; POLYMORPHISM, SINGLE NUCLEOTIDE; SWINE; SWINE DISEASES;

EID: 78650266038     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/1471-2156-11-112     Document Type: Article

References (46)

1. Done SH, Gresham ACJ. Lordosis and kyphosis ("humpy-back") in pigs. Pig J 1998, 33:134-141.
2. Done SH, Potter RA, Courtenay A, Peissel K. Lordosis and kyphosis ("humpy-back") in pigs: A second type of the condition associated with hemivertebrae. Pig J 1999, 44:148-153.
3. Lahrmann KH, Hartung K. Causes of kyphotic and lordotic curvature of the spine with cuneiform vertebral deformation in swine. Berl Munch Tierarztl Wochenschr 1993, 106:127-132.
4. Nielsen LWD, Hogendal P, Arnbjerg J, Jensen HE. Kyphosis in pigs. Proceedings of the 21st Meeting of the European Society of Veterinary Pathology: 10 September 2003; Dublin, Ireland; 2003, 132.
5. Penny RHC, Walters JR. A "humpy-backed" syndrome of pigs. Vet Ann 1986, 26:128-135.
6. Holl JW, Rohrer GA, Shackelford SD, Wheeler TL, Koohmaraie M. Estimates of genetic parameters for kyphosis in two crossbred swine populations. J Anim Sci 2008, 86:1765-1769. 10.2527/jas.2007-0628, 18375662.
7. Hastbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet 1999, 7:664-670. 10.1038/sj.ejhg.5200361, 10482955.
8. Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FFB, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, Lawler J. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nature Genet 1995, 10:325-329. 10.1038/ng0795-325, 7670471.
9. Yueh YG, Gardner DP, Kappen C. Evidence for regulation of cartilage differentiation by the homeobox gene HOXC-8. PNAS 1998, 95:9956-9961. 10.1073/pnas.95.17.9956, 21443, 9707582.
10. Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 1999, 65:175-182. 10.1086/302464, 1378088, 10364530.
11. Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Muller C, Muntoni F. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005, 65:1930-1935. 10.1212/01.wnl.0000188870.37076.f2, 16380615.
12. Giunta C, Randolph A, Steinmann B. Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Mol Genet Me tab 2005, 86:269-276.
13. Xiong DH, Liu XG, Guo YF, Tan LJ, Wang L, Sha BY, Tang ZH, Pan F, Yang TL, Chen XD, Lei SF, Yerges LM, Zhu XZ, Wheeler VW, Patrick AL, Bunker CH, Guo Y, Yan H, Pei YF, Zhang YP, Levy S, Papasian CJ, Xiao P, Lundberg YW, Recker RR, Liu YZ, Liu YJ, Zmuda JM, Deng HW. Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. Am J Hum Genet 2009, 84:388-398. 10.1016/j.ajhg.2009.01.025, 2667986, 19249006.
14. Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Negarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Identification of mutations in CUL7 in 3-M syndrome. Nature Genet 2005, 37:1119-1124. 10.1038/ng1628, 16142236.
15. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997, 89:773-779. 10.1016/S0092-8674(00)80260-3, 9182765.
16. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994, 372:525-530. 10.1038/372525a0, 7990924.
17. Tang PLF, Cheung C-L, Sham PC, McClurg P, Lee B, Chan S-Y, Smith DK, Tanner JA, Su AI, Cheah KSE, Kung AWC, Song Y-. Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in Southern Chinese women. J Bone Miner Res 2009, 24:1013-1021. 10.1359/jbmr.081258, 19113921.
18. Axenovich TI, Zaidman AM, Zorkoltseva1 IV, Kalashnikova EV, Borodin PM. Segregation analysis of Scheuermann disease in ninety families from Siberia. Am J Med Genet 2001, 100:275-279. 10.1002/ajmg.1290, 11343318.
19. Shahbazian MD, Young JI, Yuva-Paylor LA, Spencer CM, Antalffy BA, Noebels JL, Armstrong DL, Paylor R, Zoghbi HY. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 2002, 35:243-254. 10.1016/S0896-6273(02)00768-7, 12160743.
20. Zappella M, Meloni I, Longo I, Hayek G, Renieri A. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet 2001, 104:14-22. 10.1002/ajmg.10005, 11746022.
21. Johnston CE, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen syndrome. J Bone Joint Surg 1996, 78A:538-545. 22.
22. Dias MS. Normal and abnormal development of the spine. Neurosurg Clin N Am 2007, 18:415-429. 10.1016/j.nec.2007.05.003, 17678747.
23. Ferraiuolo MA, Rousseau M, Carol Miyamoto C, Shenker S, Wang XQD, Nadler M, Blanchette M, Dostie J. The three-dimensional architecture of Hox cluster silencing. Nucleic Acids Res 2995065, 20660483.
24. Van den Akker E, Fromental-Ramain C, de Graaff W, Le Mouellic H, Brulet P, Cambon P, Deschamps J. Axial skeletal patterning in mice lacking all paralogous group 8 Hox genes. Development 2001, 128:1911-1921.
25. Akiyama H. Control of chondrogenesis by the transcription factor SOX9. Mod Rheumatol 2008, 18:213-219. 10.1007/s10165-008-0048-x, 18351289.
26. Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B. Dominance of SOX9 function over RUNX2 during skeletogenesis. PNAS 2006, 103:19004-19009. 10.1073/pnas.0605170103, 1748167, 17142326.
27. Nijweidi PJ, Feyen JHM. Cells of bone: Proliferation, differentiation, and hormonal regulation. Physiol Rev 1986, 66:855-886.
28. Viguet-Carrin S, Garnero P, Delmas PD. The role of collagen in bone strength. Osteoporos Int 2006, 17:319-336. 27, 10.1007/s00198-005-2035-9, 16341622.
29. Klindt J, Thallman RM, Wise T. Effects of sire line, sire, and sex on plasma urea nitrogen, body weight, and backfat thickness in offspring of Duroc and Landrace boars. J Anim Sci 2006, 84:1323-1330.
30. NRC Nutrient Requirements of Swine. 1998, Natl. Acad. Press, Washington, DC, 10th rev, NRC.
31. FASS Guide for Care and Use of Agricultural Animals in Agricultural Research and Teaching. 1999, Fed. Animal Science Society, Savoy, IL, 1, FASS.
32. Rohrer GA, Thallman RM, Shackelford S, Wheeler T, Koohmaraie M. A genome scan for loci affecting pork quality in a Duroc-Landrace F2 population. Anim Genet 2006, 37:17-27. 10.1111/j.1365-2052.2005.01368.x, 16441291.
33. Lindholm-Perry AK, Rohrer GA, Holl JW, Shackelford SD, Wheeler TL, Koohmaraie M, Nonneman D. Relationships among calpastatin single nucleotide polymorphisms, calpastatin expression and tenderness in pork longissimus. Anim Genet 2009, 40:713-721. 10.1111/j.1365-2052.2009.01903.x, 19422367.
34. Rozen S, Skaletsky HJ. Primer3 on the WWW for general users and for biologist programmers. Methods in Mol Biol 2000, 365-386. Totowa NJ: Humana Press, Bioinformatics Methods and Protocols, Krawetz S, Misener S.
35. Thallman RM. User's Manual for GenoProb Version 2.000. 2002, USDA-ARS, U.S. Meat Animal Research Center, Clay Center, NE.
36. Boldman KG, Kriese LA, Van Vleck LD, Van Tassel CP, Kachman SD. A manual for the use of MTDFREML. A set of programs to obtain estimates of variance and covariances (Draft). 1995, USDA, ARS, Lincoln, NE.
37. Kuehn LA, Rohrer GA, Nonneman DJ, Thallman RM, Leymaster KA. Detection of single nucleotide polymorphisms associated with ultrasonic backfat depth in a segregating Meishan × White Composite population. J Anim Sci 2007, 85:1111-1119. 10.2527/jas.2006-704, 17264233.
38. Lange K, Cantor R, Horvath S, Perola M, Sabatti C, Sinsheimer J, Sobel E. Mendel Version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Am J Hum Genet 2001, 69(Supplement):A1886.
39. Tang PL, Cheung CL, Sham PC, McClurg P, Lee B, Chan SY, Smith DK, Tanner JA, Su AI, Cheah KS, Kung AW, Song YQ. Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women. J Bone Miner Res 2009, 24:1013-1021. 10.1359/jbmr.081258, 19113921.
40. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo T, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nature Genet 2007, 39:70-74. 10.1038/ng1926, 17143285.
41. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genet 2007, 39:75-79. 10.1038/ng1939, 17143282.
42. Meyers SN, Rogatcheva MB, Larkin DM, Yerle M, Milan D, Hawken RJ, Schook LB, Beever JE. Piggy-BACing the human genome II. A high-resolution, physically anchored, comparative map of the porcine autosomes. Genomics 2005, 86:,739-52. 10.1016/j.ygeno.2005.04.010, 16246521.
43. Munoz G, Ovilo C, Estelle J, Silio L, Fernandez A, Rodriguez C. Association with letter size of new polymorphisms on ESR1 and ESR2 genes in a Chinese-European pig line. Genet Sel Evol 2007, 39:195-206. 10.1186/1297-9686-39-2-195, 2682837, 17306201.
44. Ciobanu DC, Bastiaansen JW, Lonergan SM, Thomsen H, Dekkers JC, Plastow GS, Rothschild MF. New alleles in calpastatin gene are associated with meat quality traits in pigs. J Anim Sci 2004, 82:2829-2839.
45. Kennes YM, Murphy BD, Pothier F, Palin MF. Characterization of swine leptin (LEP) polymorphisms and their association with production traits. Anim Genet 2001, 32:215-218. 10.1046/j.1365-2052.2001.00768.x, 11531701.
46. Campbell EMG, Nonneman D, Rohrer GA. Fine mapping a quantitative trait locus affecting ovulation rate in swine on chromosome 8. J Anim Sci 2003, 81:1706-1714.