期刊
JOURNAL OF MOLECULAR BIOLOGY
卷 378, 期 2, 页码 387-397出版社
ACADEMIC PRESS LTD ELSEVIER SCIENCE LTD
DOI: 10.1016/j.jmb.2008.02.044
关键词
hypertrophic cardiomyopathy; IgI domain structure; muscle regulation; MyBP-C C1 domain; C-protein
资金
- British Heart Foundation [RG/07/012/24110] Funding Source: Medline
- British Heart Foundation [RG/07/012/24110] Funding Source: researchfish
C-protein is a major component of skeletal and cardiac muscle thick filaments. Mutations in the gene encoding cardiac C-protein [cardiac myosin binding protein-C (cMyBP-C)] are one of the principal causes of hypertrophic cardiomyopathy. cMyBP-C is a string of globular domains including eight immunoglobulin-like and three fibronectin-like domains termed C0-C10. It binds to myosin and titin, and probably to actin, and may have both a structural and a regulatory role in muscle function. To help to understand the pathology of the known mutations, we have solved the structure of the immunoglobulin-like C1 domain of MyBP-C by X-ray crystallography to a resolution of 1.55 angstrom. Mutations associated with hypertrophic cardiomyopathy are clustered at one end towards the C-terminus, close to the important C1C2 linker, where they alter the structural integrity of this region and its interactions. (c) 2008 Elsevier Ltd. All rights reserved.
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