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The human β‐myosin heavy chain gene: Sequence diversity and functional characteristics of the protein
Author(s) -
Wendel Birgit,
Reinhard Richard,
Wachtendorf Ute,
Zacharzowsky Udo B.,
Osterziel Karl J.,
Schulte Hagen D.,
Haase Hannelore,
Hoehe Margret R.,
Morano Ingo
Publication year - 2000
Publication title -
journal of cellular biochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.028
H-Index - 165
eISSN - 1097-4644
pISSN - 0730-2312
DOI - 10.1002/1097-4644(20001215)79:4<566::aid-jcb50>3.0.co;2-e
Subject(s) - myh7 , gene , coding region , hypertrophic cardiomyopathy , locus (genetics) , myosin , biology , myh6 , genetics , nucleic acid sequence , peptide sequence , microbiology and biotechnology , genomic dna , gene isoform , biochemistry
The β‐myosin heavy chain gene (MYH7) encodes the motor protein that drives myocardial contraction. It has been proven to be a disease gene for hypertrophic cardiomyopathy (HCM). We analyzed the DNA sequence variation of MYH7 (about 16 kb) of eight individuals: six patients with HCM and two healthy controls. The overall DNA sequence identity was up to 97.2% compared to Jaenicke and coworkers (Jaenicke et al. [1990] Genomics 8:194–206), while the corresponding amino acid sequences revealed 100% identity. In HCM patients, eleven nucleotide substitutions were identified but no causative disease mutation was found: six were detected in coding, four in intronic, and one in 5′ regulatory regions. The average nucleotide diversity across this locus was 0.015% with an average of 0.02% in the coding and 0.012% in the noncoding sequence. Analysis of the kinetic behaviour of β‐MHC in the intact contractile structure of normal individuals and HCM patients revealed apparent rate constants of tension development ranging between 1.58 s −1 and 1.48 s −1 . J. Cell. Biochem. 79:566–575, 2000. © 2000 Wiley‐Liss, Inc.