Structural organization of the human cardiac [alpha]-myosin heavy chain gene (MYH6)

Journal Article · Wed Dec 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1016/S0888-7543(11)80006-6· OSTI ID:7076444

Epp, T A; Dixon, I M.C.; Wang, H Y; Sole, M J; Liew, C C ^[1]

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1. Univ. of Toronto (Canada)

The human myocardium expresses two cardiac myosin heavy chain (MyHC) isoforms, [alpha] and [beta], that exist in tandem array on chromosome 14q12. The authors have previously sequenced the entire human cardiac [beta]-MyHC gene and now report the complete nucleotide sequence of the human cardiac [alpha]-MyHC, encompassing 26,159 bp as well as the entire 4484-bp 5'-flanking intergenic region. The gene (MYH6) consists of 39 exons, 37 of which contain coding information. The 5'-untranslated region is split into 3 exons, with the third exon containing the AUG translocation initiation codon. With the exception of the 13th intron of the human cardiac [beta]-MyHC, which is not present within the [alpha]-isogene, all exon/intron boundaries are conserved. Conspicuous sequence motifs contained within the [alpha]-MyHC gene include four Alu repeats, a single (GT)[sub n] element, and a homopurine-homopyrimidine tract containing 23 GAA repeating units followed by 10 GAG repeating units. Comparison of the encoded amino acid sequence with a previously reported human [alpha]-MyHC cDNA sequence reveals several potential polymorphisms. 29 refs., 1 fig., 1 tab.

• OSTI ID: 7076444
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 18:3; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
CARDIOVASCULAR SYSTEM
DNA SEQUENCING
GENES
GLOBULINS
HEART
MUSCLES
MYOCARDIUM
MYOSIN
ORGANIC COMPOUNDS
ORGANS
PHYSIOLOGY
PROTEINS
STRUCTURAL CHEMICAL ANALYSIS