Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
Details
Serval ID
serval:BIB_DCB435FBAB69
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
Journal
Nature Genetics
ISSN
1061-4036 (Print)
Publication state
Published
Issued date
12/1995
Volume
11
Number
4
Pages
438-40
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Research Support, Non-U.S. Gov't --- Old month value: Dec
Abstract
Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease characterized by a ventricular hypertrophy predominantly affecting the interventricular septum and associated with a large extent of myocardial and myofibrillar disarray. It is the most common cause of sudden death in the young. In the four disease loci found, three genes have been identified which code for beta-myosin heavy chain, cardiac troponin T and alpha-tropomyosin. Recently the human cardiac myosin binding protein-C (MyBP-C) gene was mapped to chromosome 11p11.2 (ref. 8), making this gene a good candidate for the fourth locus, CMH4 (ref. 5). Indeed, MyBP-C is a substantial component of the myofibrils that interacts with several proteins of the thick filament of the sarcomere. In two unrelated French families linked to CMH4, we found a mutation in a splice acceptor site of the MyBP-C gene, which causes the skipping of the associated exon and could produce truncated cardiac MyBP-Cs. Mutations in the cardiac MyBP-C gene likely cause chromosome 11-linked hypertrophic cardiomyopathy, further supporting the hypothesis that hypertrophic cardiomyopathy results from mutations in genes encoding contractile proteins.
Keywords
Amino Acid Sequence
Base Sequence
Cardiomyopathy, Hypertrophic/*genetics
Carrier Proteins/*genetics
Chromosomes, Human, Pair 11
Female
Haplotypes
Humans
Linkage (Genetics)
Male
Molecular Sequence Data
Mutation/*genetics
Pedigree
Polymorphism, Single-Stranded Conformational
*RNA Splicing
Pubmed
Web of science
Create date
25/01/2008 16:18
Last modification date
20/08/2019 16:01