Structural organization of the human cardiac α-myosin heavy chain gene (MYH6)
作者： Trevor A. Epp , Ian M.C. Dixon , Hui-Yuan Wang , Michael J. Sole , Choong-Chin Liew
DOI: 10.1016/S0888-7543(11)80006-6
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摘要: The human myocardium expresses two cardiac myosin heavy chain (MyHC) isoforms, α and β, that exist in tandem array on chromosome 14q12. We have previously sequenced the entire β-MyHC gene now report complete nucleotide sequence of α-MyHC, encompassing 26,159 bp as well 4484-bp 5′-flanking intergenic region. (MYH6) consists 39 exons, 37 which contain coding information. 5′-untranslated region is split into 3 with third exon containing AUG translation initiation codon. With exception 13th intron β-MyHC, not present within α-isogene, all exon/intron boundaries are conserved. Conspicuous motifs contained α-MyHC include four Alu repeats, a single (GT) n element, homopurine-homopyrimidine tract 23 GAA repeating units followed by 10 GAG units. Comparison encoded amino acid reported cDNA reveals several potential polymorphisms.
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