Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

Nature Genetics

Volumn 12, Issue 1, 1996, Pages 17-23

  Wang, Q ^a,b,c   Curran, M E ^b,c   Splawski, I ^b,c   Burn, T C ^d   Millholland, J M ^d   VanRaay, T J ^d   Shen, J ^a,b,c   Timothy, K W ^e   Vincent, G M ^c,e   De Jager, T ^b,c,f   Schwartz, P J ^g   Towbin, J A ^h   Moss, A J ⁱ   Atkinson, D L ^a,b,c   Landes, G M ^d   Connors, T D ^d   Keating, M T ^a,b,c  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF UTAH   (United States)

^d Univ of Stellenbosch Medical School ^*  (United States)

^e LDS HOSPITAL   (United States)

^f SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^g UNIVERSITY OF PAVIA   (Italy)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

ARTICLE; FEMALE; GENE MUTATION; HEART ARRHYTHMIA; HEART RHYTHM; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR CLONING; PRIORITY JOURNAL; SUDDEN DEATH;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 11; CLONING, MOLECULAR; FEMALE; HUMANS; LINKAGE (GENETICS); LONG QT SYNDROME; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 9044240040     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0196-17     Document Type: Article

References (40)

1. Kannel, W.B., Cupples, A. & D'Agostino, R.B. Sudden death risk in overt coronary heart diseases: the Framingham study. Am. Heart J. 113, 799-804 (1987).
2. Willich, S.N. et al. Circadian variation in the incidence of sudden cardiac death in the Framingham heart study population. Am. J. Cardiol. 60, 801-806 (1987).
3. The Cardiac Arrhythmia Suppression Trial II Investigators. Effect of the antiarrhythmic agent moricizine on survival after myocardial infarction. N. Engl. J. Med. 327, 227-233 (1992).
4. Jervell, A. & Lange-Nielsen, F. Congenital deaf mutism, functional heart disease with prolongation of the QT interval, and sudden death. Am. Heart J. 54, 59-78 (1957).
5. Romano, C. Congenital cardiac arrhythmias. Lancet I, 65B (1965).
6. Ward, O.C. A new familial cardiac syndrome in children. J. Ir. Med. Assoc. 54, 103-106 (1964).
7. Schwartz, P.J., Periti, M. & Malliani, A. The long QT syndrome. Am. Heart J. 109, 378-390 (1975).
8. Moss, A.J. & McDonald, J. Unilateral cervicothoracic sympathetic ganglionectomy for the treatment of long QT interval syndrome. N. Engl. J. Med. 285, 903-904 (1970).
9. Zipes, D.P. Proarrhythmic effects of antiarrhythmic drugs. Am. J. Cardiol. 59, 26E-31E (1987).
10. Keating, M.T. et al. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 252, 704-706 (1991)
11. Keating, M.T. et al. Consistent linkage of the long QT syndrome to the Harvey ras-1 locus on chromosome 11. Am. J. Hum. Genet. 49, 1335-1339 (1991).
12. Jiang, C. et al. Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nature Genet. 8, 141-147 (1994).
13. Schott, J. et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am. J. Hum. Genet. 57, 1114-1122 (1995).
14. Curran, M.E. et al. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80, 795-803.
15. Kr, potassium channel. Cell 81, 299-307 (1995).
16. Trudeau, M.C., Warmke, J., Ganetzky, B. & Robertson, G. HERG, a human inward rectifier in the voltage-gated potassium channel family. Science 269, 92-95 (1995).
17. Wang, Q. et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80, 805-811 (1995).
18. Wang, Q. et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum. Mol. Genet. 4, 1603-1607 (1995).
19. + channel gene KCN4A/Kv1.4 to mouse chromosome 2/human 11p14 and mapping of KCNC1/Kv3.1 to mouse 7/human 11p14.3-p15.2 and KCNA1/Kv1.1 to human 12p13. Genomics 20, 191-202 (1994).
20. Russell, M.W. et al. Localization of Romano-Ward long QT syndrome gene, LQT1, to the interval between tyrosine hydroxylase (TH) and D11S1349. Am. J. Hum. Genet. 57, 503-507 (1995).
21. Gyapay, G. et al. The 1993-94 Généthon human genetic linkage map. Nature Genet. 7, 246-339 (1994).
22. Tanigami, A. et al. Mapping of 262 DNA markers into 24 intervals on human chromosome 11. Am. J. Hum. Genet 50, 56-64 (1992).
23. Tokino, T. et al. Isolation and mapping of 62 new RFLP markers on human chromosome 11. Am. J. Hum. Genet. 48, 258-268 (1991).
24. Pongs, O. et al. Shaker encodes a family of putative potassium channel proteins in the nervous system of Drosophila. EMBO J. 7, 1087-1095 (1988).
25. Wang, Q. & Keating, M.T. Isolation of P1 insert ends by direct sequencing. BioTechniques 17, 282-284 (1994).
26. MacKinnon, R. Determination of the subunit stoichiometry of a voltage-activated potassium channel. Nature 350, 232-235 (1991).
27. MacKinnon, R., Aldrich, R.W. & Lee, A.W. Functional stoichiometry of shaker potassium channel inactivation. Science 262, 757-759 (1993).
28. + current systems. Neuron 7, 763-773 (1991).
29. + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation (in the press).
30. Anderson, M.A. & Gusella, J.K. Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 20, 856-858 (1984).
31. Lathrop, G.M., Lalouel, J.-M., Julier, C. & Ott, J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet. 37, 482-498 (1985).
32. Green, E.D. & Olson, M.V. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl. Acad. Sci. USA 87, 1213-1217 (1990).
33. Kwiatowski, T.J., Zoghbi, H.Y., Ledbetter S.A., Ellison, K.A. & Chinault, A.C. Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR. Nucl. Acids Res. 17, 7191-7192 (1990).
34. Ochman, H., Gerber, A.S. & Hartl, D.L Genetic application of an inverse polymerase chain reaction. Genetics 120, 621-623 (1988).
35. Sternberg, N. Bacteriophage P1 cloning system for the isolation, amplification, and recovery of DNA fragments as large as 100 kilobase pairs. Proc. Natl. Acad. Sci. USA 87, 103-107 (1990).
36. Sambrook, J., Fritsch, E.F. & Maniatis, T.. Molecular Cloning: A Laboratory Manual. Second Edition. (Cold Spring Harbor Laboratory Press, New York, 1989).
37. Burn, T.C., Connors, T.D., Klinger, K.W. & Landes, G.M. Increased exon trapping efficiencies through modifications to the pSPL3 splicing vector. Gene 161, 183-187 (1995).
38. Buckler, A.J. et al. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88, 4005-4009 (1991).
39. Church, D.M. et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6, 98-104 (1994).
40. Marchuk, D., Drumm, M., Saulino, A. & Collins, F.S. Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucl. Acids Res. 19, 1154 (1990).