title: The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein.
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).
authors.affiliation: Max-Delbrück-Center for Molecular Medicine, Berlin, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Wendel
authors.forename: R
authors.initials: R
authors.lastname: Reinhard
authors.forename: U
authors.initials: U
authors.lastname: Wachtendorf
authors.forename: U B
authors.initials: UB
authors.lastname: Zacharzowsky
authors.forename: K J
authors.initials: KJ
authors.lastname: Osterziel
authors.forename: H D
authors.initials: HD
authors.lastname: Schulte
authors.forename: H
authors.initials: H
authors.lastname: Haase
authors.forename: M R
authors.initials: MR
authors.lastname: Hoehe
authors.forename: I
authors.initials: I
authors.lastname: Morano
mesh_terms: D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000503:physiopathology*; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D066298:In Vitro Techniques; D007700:Kinetics; D009200:Myocardial Contraction / Q000502:physiology; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics* / Q000502:physiology*
chemical_list: D004247:DNA; D018995:Myosin Heavy Chains