Molecular Cardiology and Genetics in the 21st Century-A Primer

Current Problems in Cardiology

Volumn 31, Issue 10, 2006, Pages 637-701

  Roberts, Robert ^a   Gollob, Michael ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; RECOMBINANT DNA;

AORTA ANEURYSM; AORTA STENOSIS; ARTICLE; BRUGADA SYNDROME; CARDIOLOGY; CARDIOVASCULAR DISEASE; CELL NUCLEUS TRANSPLANTATION; CHROMOSOME ABERRATION; CHROMOSOME MAP; CONGESTIVE CARDIOMYOPATHY; CORONARY ARTERY DISEASE; CROSSING OVER; DELETION MUTANT; DNA ISOLATION; DNA SEQUENCE; GEL ELECTROPHORESIS; GENE IDENTIFICATION; GENE INSERTION; GENE MAPPING; GENETIC LINKAGE; GENETIC RECOMBINATION; GENETIC TRANSCRIPTION; GENOTYPE; HEART ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART ATRIUM SEPTUM DEFECT; HEART BLOCK; HEART MUSCLE CONDUCTION DISTURBANCE; HEART RIGHT VENTRICLE DYSPLASIA; HOLT ORAM SYNDROME; HUMAN; HUMAN GENOME PROJECT; HYPERTROPHIC CARDIOMYOPATHY; LINKAGE ANALYSIS; LONG QT SYNDROME; MARFAN SYNDROME; MISSENSE MUTATION; MITRAL VALVE DISEASE; MITRAL VALVE PROLAPSE; MOLECULAR BIOLOGY; MOLECULAR CLONING; MOLECULAR GENETICS; NONHUMAN; NORTHERN BLOTTING; PHENOTYPE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; RNA TRANSLATION; SINGLE NUCLEOTIDE POLYMORPHISM; SINUS NODE DYSFUNCTION; SITE DIRECTED MUTAGENESIS; SOUTHERN BLOTTING; STEM CELL; STEM CELL TRANSPLANTATION; WESTERN BLOTTING; WOLFF PARKINSON WHITE SYNDROME;

ANIMALS; CARDIOVASCULAR DISEASES; DNA; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; GENOTYPE; HUMAN GENOME PROJECT; HUMANS; MOLECULAR BIOLOGY; MOLECULAR DIAGNOSTIC TECHNIQUES; PHENOTYPE;

EID: 33748182781     PISSN: 01462806     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cpcardiol.2006.05.004     Document Type: Article

References (104)

1. Roberts R. Integrated program for the training of cardiovascular fellows in molecular biology. In: Albertini A., Lenfant C., and Paoletti R. (Eds). Biotechnology in Clinical Medicine (1987), Raven Press, New York 99-104
2. Roberts R. Impact for molecular biology in cardiology. Am J Physiol 261 (1991) 8-14
3. Avery O., MacLeod D.M., and MacCarty M. Studies on the chemical nature of the substance inducing transformation of pneumococcal types. J Exp Med 79 (1944) 137-158
4. Watson J.D., and Crick F.H.C. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature 171 (1953) 737-738
5. Watson J.D., and Crick F.H.C. Genetical implications of the structure of deoxyribonucleic acid. Nature 171 (1953) 964-967
6. Franklin R.E., and Gosling R.G. Molecular configuration in sodium thymonucleate. Nature 171 (1953) 740-741
7. Wilkins M.H.F., Stokes A.R., and Wilson H.R. Molecular structure of deoxypentose nucleic acids. Nature 171 (1953) 738-740
8. Marmor J., and Lane L. Strand separation and specific recombination of deoxyribonucleic acids: biological studies. Proc Natl Acad Sci USA 46 (1960) 453-461
9. Doty P., Marmor J., Eigner J., et al. Strand separation and specific recombination in deoxyribonucleic acids: physical chemical studies. Proc Natl Acad Sci USA 46 (1960) 461-476
10. Nirenberg M., and Matthaei J.H. The dependence of cell-free protein synthesis in E. coli upon naturally occurring or synthetic polyribonucleotides. Proc Natl Acad Sci USA 47 (1961) 1588-1602
11. Nishimura S., Jones D.S., and Khorana H.G. The in vitro synthesis of a co-polypeptide containing two amino acids in alternative sequence dependent upon a DNA-like polymer containing two nucleotides in alternating sequence. J Mol Biol 146 (1981) 1-21
12. Olivera B.M., Hall Z.W., and Lehman I.R. Enzymatic joining of polynucleotides. V. A DNA adenylate intermediate in the polynucleotide joining reaction. Proc Natl Acad Sci USA 61 (1968) 237-244
13. Linn S., and Arbor W. Host specialty of DNA produced by Escherichia coli. X: In vitro restriction of phage fd replicative form. Proc Natl Acad Sci USA 59 (1968) 1300-1306
14. Smith H.O., and Wilcox K.W. A restriction enzyme from Hemophilias influenzae. I. Purification and general properties. J Mol Biol 51 (1970) 379-391
15. Kelly Jr. T.J., and Smith H.O. A restriction enzyme from Hemophilias influenzae. II. Base sequence of the recognition site. J Mol Biol 51 (1970) 393-409
16. Baltimore D. Viral RNA-dependent DNA polymerase. Nature 226 (1970) 1209-1211
17. Termin H.M., and Mizutani S. RNA-dependent DNA polymerase in virions of Rous sarcoma virus. Nature 226 (1970) 1211-1213
18. Cohen S., Chang A., Boyer H., et al. Construction of biological functional bacterial plasmids in vitro. Proc Natl Acad Sci USA 70 (1973) 3240-3244
19. Danna K.J., and Nathans D. Specific cleavage of simian virus 40 DNA by restriction endonuclease of Hemophilus influenzae. Proc Natl Acad Sci USA 68 (1971) 2913-2917
20. Sanger F., Air M., Barrel B.G., et al. Nucleotide sequence of bacteriophage phi X174 DNA. Nature 265 (1977) 687-695
21. Maxam A.M., and Gilbert W. A new method of sequencing DNA. Proc Natl Acad Sci USA 74 (1977) 560-564
22. Gething M.J., Adler B., Boose J.A., et al. Variants of human tissue-type plasminogen activator that lack specific structural domains of the heavy chain. EMBO J 7 (1988) 2731-2740
23. Saiki R.K., Scharf S., Faloona F., et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230 (1985) 1350-1354
24. Saiki R.K., Gelfand D.H., Stoffel S., et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239 (1988) 487-491
25. The Chromosome 21 Mapping and Sequencing Consortium. Nature 405 (2000) 311-319
26. Katsanis N., Worley K.C., and Lupski J.R. An evaluation of the draft human genome sequence. Nat Genet 29 1 (2001) 88-91
27. Altshuler D., Brooks L.D., Chakravarti A., et al. A haplotype map of the human genome-The International HapMap Consortium. Nature 427 (2005) 1299-1320
28. Southern E.M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98 (1975) 503-517
29. Roberts R., Towbin J., Parker T.G., et al. A Primer of Molecular Biology (1992), Elsevier Science Publishing Co., Inc, New York
30. Marian A.J., Brugada R., and Roberts R. Hurst's the Heart-Chapter 72-Cardiovascular Diseases due to Genetic Abnormalities. 11th ed. (2004) 1747-1783
31. Ott J. Analysis of human genetic linkage (1991), The Johns Hopkins University Press, Baltimore, MD
32. Geisterfer-Lowrance A.A., Kass S., Tanigawa G., et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta-cardiac myosin heavy chain gene missense mutation. Cell 62 (1990) 999-1006
33. Marian A.J., and Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 33 4 (2001) 655-670
34. Marian A.J., Yu Q.T., Workman R., et al. Angiotensin converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet 342 (1993) 1085-1086
35. Yamazaki T., Komuro I., and Yazaki Y. Role of the renin-angiotensin system in cardiac hypertrophy. Am J Cardiol 83 12A (1999) 53H-57H
36. Lechin M., Quinones M.A., Omran A., et al. Angiotensin I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Circulation 92 (1995) 1808-1812
37. Tesson F., Dufour C., Moolman J.C., et al. The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J Mol Cell Cardiol 29 (1997) 831-838
38. Pfeufer A., Osterziel K.J., Urata H., et al. Angiotensin-converting enzyme and heart chymase gene polymorphisms in hyptertrophic cardiomyopathy. Am J Cardiol 78 (1995) 362-364
39. Yoneya K., Okamoto H., Machida M., et al. Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy. Am Heart J 130 (1995) 1089-1093
40. Yamada Y., Ichihara S., Fujimura T., et al. Lack of association of polymorphisms of the angiotensin converting enzyme and angiotensionogen genes with nonfamilial hypetrophic or dilated cardiomyopathy. Am J Hypertens 10 (1997) 921-928
41. Osterop A.P., Kofflard M.I., Sandkuiji L.A., et al. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension 32 (1998) 825-830
42. Brugada R., Kelsey W., Lechin M., et al. Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy. J Investig Med 45 (1997) 542-551
43. Patel R., Lim D.S., Reddy D., et al. Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol 32 12 (2000) 2369-2377
44. Yamada Y., Ichihara S., Izawa H., et al. Association of a G994-T(Val279-Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy. J Hum Genet 46 (2001) 436-441
45. Niimura H., Bachinski L.L., Sangwatanaroj S., et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 338 1248 (1998) 1257
46. Erdmann J., Raible J., Maki-Abadi J., et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol 38 (2001) 322-330
47. Fatkin D., McConnell B.K., Mudd J.O., et al. An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest 106 11 (2000) 1351-1359
48. Hasegawa K., Fujiware H., Koshiji M., et al. Endothelin-1 and its receptor in hypertrophic cardiomyopathy. Hypertension 27 2 (1996) 259-264
49. Li R.K., Li G., Mickle D.A., et al. Overexpression of transforming growth factor-beta1 and insulin-like growth factor-I in patients with idiopathic hypertrophic cardiomyopathy. Circulation 96 (1997) 874-881
50. 92: altered function precedes structural abnormalities. Circ Res (1999) (in press)
51. Marian A.J., Wu Y., Lim D.-S., et al. A transgenic rabbit model for human hypertrophic cardiomyopathy. J Clin Invest 104 (1999) 1683-1692
52. Lim D.S., Lutucuta S., Bachireddy P., et al. Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation 103 6 (2001) 789-791
53. Patel R., Nagueh S.F., Tsybouleva N., et al. Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circulation 104 (2001) r27-r34
54. Tsybouleva N., Zhang L., Chen S., et al. Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy. Circulation 109 (2004) r59-r66
55. Kamisago M., Sharma S.D., DePalma S.R., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. New Engl J Med 343 (2000) 1688-1696
56. Olson T.M., Michels V.V., Thibodeau S.N., et al. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280 (1998) 750-752
57. Coral-Vazquez R., Cohn R.D., Moore S.A., et al. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 98 (1999) 465-474
58. Malhotra S.B., Hart K.A., Klamut H.J., et al. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 242 (1988) 755-759
59. Muntoni F., Wilson L., Marrosu G., et al. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 96 (1995) 693-699
60. Fatkin D., MacRae C., Sasaki T., et al. Missense Mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 341 (1999) 1715-1724
61. Rosengart T.K., Patel S.R., and Crystal R.G. Therapeutic angiogenesis: protein and gene therapy delivery strategies. J Cardiovasc Risk 6 (1999) 29-40
62. Thiene G., Basso C., Danieli G., et al. Arrhythmogenic right ventricular cardiomyopathy. Trends Cardiovasc Med 7 (1997) 84-90
63. Tsubata S., Bowles K.R., Vatta M., et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106 5 (2000) 655-662
64. Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21 (1999) 285-288
65. Bova M.P., Yaron O., Huang Q., et al. Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function. Proc Natl Acad Sci USA 96 (1999) 6137-6142
66. Corrado D., Fontaine G., Marcus F.I., et al., Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Circulation 101 11 (2000) E101-E106
67. McKoy G., Protonotarios N., Crosby A., et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and wooly hair (Naxos disease). Lancet 355 (2000) 2119-2124
68. Tiso N., Stephan D.A., Nava A., et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 10 (2001) 189-194
69. Rampazzo A., Nava A., Malacrida S., et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant forum of arrhythmogenic right ventricular cardiomyopathy. Am Hum Genet 71 (2002) 1200-1206
70. Gerull B., Heuser A., Wichter T., et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 36 11 (2005) 1162-1164
71. Roden D.M., Lazzara R., Rosen M., et al. Multiple mechanisms in the Long-QT Syndrome: current knowledge, gaps, and future direction. Circulation 94 8 (1996) 1996-2012
72. r. Cell 81 (1995) 299-307
73. Barhanin J., Lesage F., Guillemare E., et al. K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current [see comments]. Nature 384 6604 (1996) 78-80
74. Wang Q., Shen J., Splawski I., et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 (1995) 805-811
75. Mohler P.J., Schott J.J., Gramolini A.O., et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421 6923 (2003) 634-639
76. Plaster N.M., Tawil R., Tristani-Firouzi M., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105 (2001) 511-519
77. Knapp M., Seuchter S.A., and Baur M.P. Two-locus disease models with two marker loci: the power of affected-sib-pair tests. Am J Hum Genet 55 5 (1994) 1030-1041
78. Splawski I., Timothy K.W., Tateyama M., et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297 (2002) 1333-1336
79. Chen Q., Kirsch G.E., Zhang D., et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392 6673 (1998) 293-296
80. Weiss R.M., Barmada M.M., Nguyen T., et al. Clinical and molecular heterogeneity in the Brugaga syndrome: a novel gene locus on chromosome 3. Circulation 105 (2002) 707-713
81. Bezzina C., Veldkamp M.W., van Den Berg M.P., et al. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 85 12 (1999) 1206-1213
82. Kyndt F., Probst V., Potet F., et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 104 25 (2001) 3081-3086
83. Dumaine R., Towbin J.A., Brugada P., et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. [see comments]. Circ Res 85 9 (1999) 803-809
84. Priori S.G., Napolitano C., Tiso N., et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103 2 (2001) 196-200
85. Lahat H., Pras E., Olender T., et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 69 6 (2001) 1378
86. Brink P.A., Ferreira A., Moolman J.C., et al. Gene for progressive familial heart block type I maps to chromosome 19q13. Circulation 91 (1995) 1633-1640
87. Schott J.J., Alshinawi C., Kyndt F., et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 23 1 (1999) 20-21 Sep
88. Gollob M.H., Green M.S., Tang A., et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. New Engl J Med 344 24 (2001) 1823-1864
89. Sidhu J., Yadavendra S., Rajawat Y.S., et al. Transgenic mouse model of ventricular preecitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White Syndrome. Circulation 111 (2005) 21-29
90. Dobrev D., Graf E., Wettwer E., et al. Molecular basis of downregulation of G-protein-coupled inward rectifying K(+) current I(K,ACh) in chronic human atrial fibrillation: decrease in GIRK4 mRNA correlates with reduced I(K,ACh) and muscarinic receptor-mediated shortening of action potentials. Circulation 104 (2001) 2551-2557
91. Chen Y.H., Xu S.J., Bendahhou S., et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. N Engl J Med 299 (1997) 251-254
92. Roberts R. Genetic mechanisms of atrial fibrillation. Nature (2005) (in press)
93. Darbar D., Herron K., Ballew J.D., et al. Familial atrial fibrillation is a genetically heterogeneous disorder. J Am Cardiol 41 12 (2003) 2185-2192
94. Brugada R., Tapscott T., Czernuszewicz G.Z., et al. Identification of a genetic locus for familial atrial fibrillation. N Engl J Med 336 (1997) 905-911
95. Blair E., Redwood C.S., Ashrafian H., et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause hypertrophic cardiomyopathy: evidence for the central role of energy comp disease pathogenesis. Hum Mol Genet 10 11 (2001) 1215-1220
96. Gollob M.H., Seger J.J., Gollob T.N., et al. Novel PRKAG2 mutation in the genetic syndrome of ventricular preexcitation and conduction defects with childhood onset and absence of cardiac hypertrophy. Circulation 104 (2001) 3030-3033
97. Roberts R., and Brugada J. Genetic aspects of arrhythmias. Am J Med Genet 97 4 (2000) 310
98. Sidhu J., duanxiang L., Wang A., et al. Two transgenic animal models expressing human troponin T gene mutations: one exhibiting dilated cardiomyopathy (W141) and the other exhibiting hypertrophic cardiomyopathy (Q92). Journal of American College of Cardiology 43 (2004) 216A 3-3-
99. Nuyens D., Stengl M., Dugarmaa S., et al. Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome. Nat Med 7 9 (2001) 1021-1027
100. Cerrone M., Colombi B., Santoro M., et al. Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor. Circ Res 96 10 (2005) 77-82
101. Oi S., Haneda T., Osaki J., et al. Lovastatin prevents angiotensin II-induced cardiac hypertrophy in cultured neonatal rat heart cells. Eur J Pharmacol 376 (1999) 139-148
102. Park H.J., and Galper J.B. 3-Hydroxy-3-methylglutaryl CoA reductase inhibitors up-regulate transforming growth factor-beta signaling in cultured heart cells via inhibition of geranylgeranylation of RhoA GTPase. Proc Natl Acad Sci USA 96 (1999) 11525-11530
103. Su S.F., Hsiao C.L., Chu C.C., et al. Effects of pravastatin on left ventricular mass in patients with hyperlipidemia and essential hypertension. Am J Cardiol 86 (2000) 514-518
104. Hinds D.A., Stuve L.L., Nilsen G.B., et al. Whole-genome patterns of common DNA variation in three human populations. Science 307 (2005) 1072-1079