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Titolo:
NOVEL SPLICE DONOR SITE MUTATION IN THE CARDIAC MYOSIN-BINDING PROTEIN-C GENE IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - CHARACTERIZATION OFCARDIAC TRANSCRIPT AND PROTEIN
Autore:
ROTTBAUER W; GAUTEL M; ZEHELEIN J; LABEIT S; FRANZ WM; FISCHER C; VOLLRATH B; MALL G; DIETZ R; KUBLER W; KATUS HA;
Indirizzi:
UNIV LUBECK,MED KLIN 2,RATZEBURGER ALLEE 160 D-23562 LUBECK GERMANY UNIV LUBECK,MED KLIN 2 D-23562 LUBECK GERMANY UNIV HEIDELBERG,MED KLIN 3 D-69115 HEIDELBERG GERMANY EUROPEAN MOL BIOL LAB D-69012 HEIDELBERG GERMANY UNIV HEIDELBERG,INST HUMAN GENET D-69120 HEIDELBERG GERMANY STADT KLINIKEN DARMSTADT,INST PATHOL D-64283 DARMSTADT GERMANY FRANZ VOLHARD KLIN D-13125 BERLIN GERMANY MAX DELBRUCK CTR MOL MED D-13125 BERLIN GERMANY
Titolo Testata:
The Journal of clinical investigation
fascicolo: 2, volume: 100, anno: 1997,
pagine: 475 - 482
SICI:
0021-9738(1997)100:2<475:NSDSMI>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
TROPONIN-T; ECHOCARDIOGRAPHIC MEASUREMENTS; CLINICAL MANIFESTATIONS; POLYACRYLAMIDE GELS; ALPHA-TROPOMYOSIN; PATHO-PHYSIOLOGY; DISEASE; INTERRELATIONS; CHROMOSOME-11; SARCOMERE;
Keywords:
CARDIAC MYOSIN-BINDING PROTEIN-C; MYOCARDIAL TISSUE; NULL ALLELE; SARCOMERE ASSEMBLY; COTRANSLATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
W. Rottbauer et al., "NOVEL SPLICE DONOR SITE MUTATION IN THE CARDIAC MYOSIN-BINDING PROTEIN-C GENE IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - CHARACTERIZATION OFCARDIAC TRANSCRIPT AND PROTEIN", The Journal of clinical investigation, 100(2), 1997, pp. 475-482

Abstract

Familial hypertrophic cardiomyopathy is a disease generally believed to be caused by mutations in sarcomeric proteins. In a family with hypertrophic cardiomyopathy linked to polymorphic markers on chromosome 11, we found a new mutation of a splice donor site of the cardiac myosin-binding protein-C gene, This mutation causes the skipping of the associated exon in mRNA from lymphocytes and myocardium, Skipping of the exon with a consecutive reading frame shift leads to premature termination of translation and is thus expected to produce a truncated cardiac myosin-binding protein-C with loss of the myosin- and titin-binding COOH terminus, However, Western blot analysis of endomyocardial biopsies from histologically affected left ventricular myocardium failed to show the expected truncated protein. These data show for the first time that a splice donor site mutation in the myosin-binding protein-C gene is transcribed to cardiac mRNA, Truncated cardiac myosin-binding protein-C does not act as a ''poison polypeptide,'' since it seems not to be incorporated into the sarcomere in significant amounts, The absence of mutant protein and of significantly reduced amounts of wild-typeprotein in the presence of the mutated mRNA argues against the ''poison protein'' and the ''null allele'' hypotheses and suggests yet unknown mechanisms relevant to the genesis of chromosome-11-associated familial hypertrophic cardiomyopathy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 10:39:23