Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome

Circulation Research

Volumn 84, Issue 3, 1999, Pages 290-297

  Neyroud, Nathalie ^a,b   Richard, Pascale ^a   Vignier, Nicolas ^a   Donger, Claire ^a   Denjoy, Isabelle ^b   Demay, Laurence ^a   Shkolnikova, Maria ^c   Pesce, Ricardo ^d   Chevalier, Philippe ^b   Hainque, Bernard ^a   Coumel, Philippe ^e   Schwartz, Ketty ^a   Guicheney, Pascale ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^d HOSPITAL UNIVERSITARIO FUNDACIÓN FAVALORO   (Argentina)

^e LOUIS PRADEL HOSPITAL   (France)

Author keywords

K+ channel; KCNQ1; KVLQT1; Long QT syndrome

Indexed keywords

POTASSIUM CHANNEL;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 11P; EXON; GENE DELETION; GENE INSERTION; GENE LOCATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; INTRON; LONG QT SYNDROME; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0032971571     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.84.3.290     Document Type: Article

References (35)

1. Romey G, Attali B, Chouabe C, Abitbol I, Guillemare E, Barhanin J, Lazdunski M. Molecular mechanism and functional significance of the minK control of the KVLQT1 channel activity. J Biol Chem. 1997;272: 16713-16716.
2. Vetter D, Mann J, Wangemann P, Liu J, McLaughlin K, Lesage F, Marcus D, Ladzunski M, Heinemann S, Barhanin J. Inner ear defects induced by null mutation of the Isk gene. Neuron. 1996;17:1251-1264.
3. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. KVLQT1 and IsK (minK) proteins associate to form the IKs cardiac potassium current. Nature. 1996;384:78-80.
4. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT. Coassembly of KVLQT1 and minK (IsK) proteins to form cardiac IKs potassium channel. Nature. 1996;384:80-83.
5. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Towbin JA, Moss AJ, Atkinson DL, Landes UM, Connors TD, Keating M. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996;12:17-23.
6. + channel KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997;15:186-189.
7. Lee MP, Hu RJ, Johnson LA, Feinberg AP. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet. 1997;15:181-185.
8. Gould TD, Pfeifer K. Imprinting of mouse Kvlqt1 is developmentally regulated. Hum Mol Genet. 1998;7:483-487.
9. Towbin JA, Li H, Taggart RT, Lehmann MH, Schwartz PJ, Satler CA, Ayyagari R, Robinson JL, Moss A, Hejtmancik JF. Evidence of genetic heterogeneity in Romano-Ward long QT syndrome: analysis of 23 families. Circulation. 1994;90:2635-2644.
10. Schwartz PJ, Periti M, Malliani A. The long Q-T syndrome. Am Heart J. 1975;89:378-390.
11. Splawski I, Timothy K, Vincent GM, Atkinson D, Keating M. Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med. 1997;336:1562-1567.
12. Romano C, Gemme G, Pongiglione R. Aritmie cardiache rare dell'eta pediatria. Clin Pediatr. 1963;45:656-683.
13. Ward OC. A new familial cardiac syndrome in children. J Ir Med Assoc. 1964;54:103-106.
14. Jervell A, Lange-Nielsen F. Congenital deaf mutism, functional heart disease with prolongation of the QT interval and sudden death. Am Heart J. 1956;54:59-68.
15. Yang WP, Levesque PWL, Conder ML, Shalaby F, Blanar M. KVLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc Natl Acad Sci U S A. 1997;94:4017-4021.
16. + channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet. 1997;6:1943-1949.
17. + channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997; 16:5472-5479.
18. Jiang M, Tseng-Crank J, Tseng GN. Suppression of slow delayed rectifier current by a truncated isoform of KVLQT1 cloned from normal human heart. J Biol Chem. 1997;272:24109-24112.
19. Demolombe S, Baro I, Pereon Y, Bliek J, Mohammad-Pannah R, Pollard H, Morid S, Mannens S, Wilde A, Barhanin J, Charpentier F, Escande D. A dominant negative isoform of the long QT syndrome 1 gene product. J Biol Chem. 1998;273:6837-6843.
20. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. Basic local alignment search tool. J Mol Biol. 1990;215:403-410.
21. Donger C, Denjoy I, Berthet M, Neyroud N, Cruaud C, Bennaceur M, Chivoret G, Schwartz K, Coumel P, Guicheney P. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation. 1997;96:2778-2781.
22. Neyroud N, Denjoy I, Donger C, Villain E, Leenhardt A, Gary F, Coumel P, Schwartz K, Guicheney P. A heterozygous mutation in the pore of the potassium channel gene KVLQT1 causes a benign phenotype in the long QT syndrome. Eur J Hum Genet. 1998;6:129-133.
23. Maruya E, Saji H, Yokoyama S. PCR-LIS-SSCP (low ionic strength single-stranded conformation polymorphism): a simple method for high resolution allele typing of HLA-DRB1, -DQB1, and -DPB1. Genome Methods. 1996;6:51-57.
24. Wang Q, Chen Q, Li HL, Towbin JA. Molecular genetics of long QT syndrome from genes to patients. Curr Opin Cardiol. 1997;12:310-320.
25. Li H, Chen Q, Moss AJ, Robinson J, Goytia V, Perry JC, Vincent M, Priori SG, Lehmann MH, Denfield SW, Duff D, Kaine S, Shimizu W, Schwartz PJ, Wang Q, Towbin JA. New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation. 1998;97: 1264-1269.
26. Shalaby F, Levesque P, Yang W, Little W, Conder M, Jenkins-West T, Blanar M. Dominant-negative KVLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation. 1997;96:1733-1736.
27. Priori SG, Schwartz PJ, Napolitano C, Bianchi L, Dennis A, De Fusco M, Brown AM, Casari G. A recessive variant of the Romano-Ward long-QT syndrome? Circulation. 1998;97:2420-2425.
28. Russell MW, Dick M, Collins FS, Brody LC. KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum Mol Genet. 1996;5:1319-1324.
29. De Jager T, Corbett CH, Badenhorst JCW, Brink PA, Corfield VA. Evidence of a long QT founder gene with varying phenotypic expression in South African families. J Med Genet. 1996;33:567-573.
30. Tanaka T, Nagai R, Tomoike H, Takata S, Yano K, Yabuta K, Haneda N, Nakano O, Shibata A, Sawayama T, Kasai H, Yasaki Y, Nakamura Y. Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. Circulation. 1997;95:565-567.
31. Van der Berg MH, Wilde AA, Robles de Medina EO, Meyer H, Geelen JL, Jongbloed RJ, Wellens HJ, Geraedts JP. The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. Hum Genet. 1997;100:356-361.
32. Tyson J, Tranebjaerg L, Bellman S, Wren C, Taylor J, Bathen J, Aslaksen B, Sorland SJ, Lund O, Malcolm S, Pembrey M, Bhattacharya S, Bitner-Glindzicz M. IsK and KVLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997;6: 2179-2185.
33. Saarinen K, Swan H, Kainulainen K, Tovonen L, Viitasalo M, Kontula K. Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat. 1998;11:118-165.
34. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 1998;18:53-55.
35. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newboms. Nat Genet. 1998;18:25-29.