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首页> 外文期刊>Molecular and Cellular Biology >Structure of a human smooth muscle actin gene (aortic type) with a unique intron site.
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Structure of a human smooth muscle actin gene (aortic type) with a unique intron site.

机译：具有独特内含子位点的人平滑肌肌动蛋白基因（主动脉型）的结构。

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A recombinant phage containing an actin gene (lambda Ha201) was isolated from a human DNA library and the structure of the actin gene was determined. The amino acid sequences deduced from the nucleotide sequences of lambda Ha201 were compared with those of six actin isoforms; they matched those of bovine aortic smooth muscle actin, except for codon 309, which was valine (GTC) in lambda Ha201 and alanine (GCN) in bovine aortic smooth muscle actin. Southern blot hybridization experiments showed that the gene of normal human cells did not have the TaqI-sensitive site around position 309, whereas half of the genes of HUT14 cells did. These results indicate that one allele of the aortic smooth muscle actin gene in HUT14 cells has a transition point mutation (C----T) at codon 309 and that the amino acid sequences of normal human aorta and bovine smooth muscle actins are probably identical. In addition to the five introns interrupting exons at codons 150, 204, and 267, and between codons 41 and 42 and 327 and 328, which are common to skeletal muscle and cardiac muscle actin genes, the smooth muscle actin gene has two more intron sites between codons 84 and 85 and 121 and 122. The previously unreported intron site between codons 84 and 85 is unique to the smooth muscle actin gene. The intron site between codons 121 and 122 is common to beta-actin genes but is not found in other muscle actin genes. A hypothesis is proposed for the evolutionary pathway of the actin gene family.
机译：从人DNA文库中分离出含有肌动蛋白基因（λHa201）的重组噬菌体，并确定了肌动蛋白基因的结构。比较了由λHa201的核苷酸序列推导的氨基酸序列与六个肌动蛋白同工型的氨基酸序列。它们与牛主动脉平滑肌肌动蛋白相匹配，除了309密码子（λHa201中的缬氨酸（GTC）和牛主动脉平滑肌肌动蛋白中的丙氨酸（GCN））。 Southern印迹杂交实验表明，正常人细胞的基因在309位附近没有TaqI敏感位点，而HUT14细胞的一半有。这些结果表明，HUT14细胞中主动脉平滑肌肌动蛋白基因的一个等位基因在第309号密码子处具有过渡点突变（C ---- T），并且正常人主动脉和牛平滑肌肌动蛋白的氨基酸序列可能相同。除了五个内含子可中断骨骼肌和心肌肌动蛋白基因共有的密码子150、204和267以及41和42、327和328密码子之间的外显子外，平滑肌肌动蛋白基因还有两个内含子位点密码子84和85之间以及121和122之间。先前未报道的密码子84和85之间的内含子位点是平滑肌肌动蛋白基因所特有的。密码子121和122之间的内含子位点是β-肌动蛋白基因共有的，但在其他肌动蛋白基因中找不到。提出了关于肌动蛋白基因家族进化途径的假设。

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