Cryptic 5′ splice site activation in SCN5A associated with Brugada syndrome

Journal of Molecular and Cellular Cardiology

Volumn 38, Issue 4, 2005, Pages 555-560

  Hong, Kui ^a   Guerchicoff, Alejandra ^a   Pollevick, Guido D ^a   Oliva, Antonio ^a   Dumaine, Robert ^a   De Zutter, Mark ^b   Burashnikov, Elena ^a   Wu, Yue Sheng ^a   Brugada, Josep ^c   Brugada, Pedro ^b   Brugada, Ramon ^a  

^a MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^b CARDIOVASCULAR CENTER AALST   (Belgium)

^c HOSPITAL CLÍNIC   (Spain)

Author keywords

Arrhythmia; Brugada syndrome; Ion channels; SCN5A; Splicing; Subject codes

Indexed keywords

AMINO ACID; RNA; SODIUM; SODIUM CHANNEL; VOLTAGE GATED NA+ CHANNEL NA(V)1.5A; VOLTAGE-GATED NA+ CHANNEL NA(V)1.5A;

AMINO ACID SEQUENCE; ARTICLE; BRUGADA SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; EPSTEIN BARR VIRUS; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION SEQUENCE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; INTRON; LYMPHOBLASTOID CELL; PATCH CLAMP; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; RNA SPLICING; SEQUENCE ANALYSIS; WHOLE CELL; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEART ARRHYTHMIA; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; SUDDEN DEATH; SYNDROME;

ARRHYTHMIA; BASE SEQUENCE; DEATH, SUDDEN, CARDIAC; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PATCH-CLAMP TECHNIQUES; RNA SPLICE SITES; SODIUM CHANNELS; SYNDROME;

EID: 20144389596     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2004.10.015     Document Type: Article

References (13)

1. P. Brugada, and J. Brugada Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome: a multicenter report J. Am. Coll. Cardiol. 20 1992 1391 1396
2. Q. Chen, G.E. Kirsch, D. Zhang, R. Brugada, J. Brugada, and P. Brugada Genetic basis and molecular mechanisms for idiopathic ventricular fibrillation Nature 392 1998 293 296
3. A.A. Wilde, C. Antzelevitch, M. Borggrefe, J. Brugada, R. Brugada, and P. Brugada Proposed diagnostic criteria for the Brugada syndrome: consensus report Eur Heart J 23 21 2002 1648 1654
4. M. Krawczak, J. Reiss, and D.N. Cooper The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences Hum. Genet. 90 1-2 1992 41 54
5. R. Brugada, J. Brugada, C. Antzelevitch, G.E. Kirsch, D. Potenza, and J.A. Towbin Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts Circulation 101 5 2000 510
6. J. Ott A computer program for linkage analysis of general human pedigrees Am. J. Hum. Genet. 28 5 1976 528 529
7. Q. Wang, Z. Li, J. Shen, and M.T. Keating Genomic organization of the human SCN5A gene encoding the cardiac sodium channel Genomics 34 1 1996 9 16
8. R. Dumaine, J.A. Towbin, P. Brugada, M. Vatta, V.V. Nesterenko, and D.V. Nesterenko Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent Circ. Res. 85 1999 803 809
9. A.J. McCullough, and S.M. Berget An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5′ splice sites Mol. Cell. Biol. 20 24 2000 9225 9235
10. X. Roca, R. Sachidanandam, and A.R. Krainer Intrinsic differences between authentic and cryptic 5′ splice sites Nucleic Acids Res. 31 21 2003 6321 6333
11. M. Harland, S. Mistry, D.T. Bishop, and J.A. Bishop A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees Hum. Mol. Genet. 10 23 2001 2679 2686
12. S. Tuffery-Giraud, C. Saquet, S. Chambert, and M. Claustres Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy Hum. Mutat. 21 6 2003 608 614
13. K. King, F.A. Flinter, V. Nihalani, and P.M. Green Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome Hum. Genet. 111 6 2002 548 554