title: Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.
abstract: We have determined that a missense mutation in exon 13 of the beta-myosin heavy chain (beta MHC) gene is expressed in the messenger RNA (mRNA) isolated from a right ventricular endomyocardial biopsy obtained from the proband of a family with hypertrophic cardiomyopathy. The mutation is the result of a substitution of an adenine for a guanine residue in one allele of the beta MHC gene and creates a second recognition site for the restriction endonuclease Ddel in exon 13. The mutation is inherited in a Mendelian fashion and co-segregates with hypertrophic cardiomyopathy in this family. Complementary DNAs synthesized from RNA isolated from the endomyocardial biopsy were cloned into a plasmid vector and sequenced to confirm the expression of both the normal and mutant allele in mRNA of myocardial tissue. This is the first report of the transcription of a mutant beta MHC gene allele into mRNA of the myocardium.
authors.affiliation: Section of Cardiology, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: M B
authors.initials: MB
authors.lastname: Perryman
authors.forename: Q T
authors.initials: QT
authors.lastname: Yu
authors.forename: A J
authors.initials: AJ
authors.lastname: Marian
authors.forename: A
authors.initials: A
authors.lastname: Mares
authors.forename: G
authors.initials: G
authors.lastname: Czernuszewicz
authors.forename: J
authors.initials: J
authors.lastname: Ifegwu
authors.forename: R
authors.initials: R
authors.lastname: Hill
authors.forename: R
authors.initials: R
authors.lastname: Roberts
mesh_terms: D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009206:Myocardium / Q000378:metabolism*; D009218:Myosins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D009218:Myosins