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The human beta-myosin heavy chain gene: Sequence diversity and functional characteristics of the protein

Item Type:Article
Title:The human beta-myosin heavy chain gene: Sequence diversity and functional characteristics of the protein
Creators Name:Wendel, B. and Reinhard, R. and Wachtendorf, U. and Zacharzowsky, U.B. and Osterziel, K.J. and Schulte, H.D. and Haase, H. and Hoehe, M.R. and Morano, I.
Abstract:The {beta}-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 {beta}-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.
Keywords:{Beta}-Myosin Heavy Chain Gene, Hypertrophic Cardiomyopathy, Kinetic Behaviour, Molecular Genetics, Sequence Variation
Source:Journal of Cellular Biochemistry
ISSN:0730-2312
Publisher:Wiley (U.S.A.)
Volume:79
Number:4
Page Range:566-575
Date:1 January 2000
Official Publication:https://doi.org/10.1002/1097-4644(20001215)79:4<566::AID-JCB50>3.0.CO;2-E
PubMed:View item in PubMed

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