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哺乳动物凝血酶抑制剂基因外显子/内含子结构的快速变化。

Rapid changes in the exon/intron structure of a mammalian thrombin inhibitor gene.

作者信息

Kamp P B, Ragg H

机构信息

Department of Biotechnology, Faculty of Technology, University of Bielefeld, D-33501, Bielefeld, Germany.

出版信息

Gene. 1999 Mar 18;229(1-2):137-44. doi: 10.1016/s0378-1119(99)00036-0.

DOI:10.1016/s0378-1119(99)00036-0
PMID:10095113
Abstract

The genomic organization of the heparin cofactor II (HCII) gene from rat and mouse was investigated and compared with their human counterpart. The genes share a common core structure consisting of five exons interrupted by four introns, but the mouse and rat gene reveal individual additional features. A unique differentially spliced exon is present in the 5'-untranslated region of the rat gene, which most probably has arisen de novo by point mutations in intronic sequences of the ancestor gene. In the mouse HCII gene, a novel intron/exon boundary has been created due to the presence of an additional DNA segment, which simultaneously provides a 3'-splice site and a polypyrimidine stretch leading to an alternatively used exon of increased size. Our data suggest that, in contrast to most other mammalian genes, the exon/intron pattern of the gene coding for HCII is in dynamic evolution.

摘要

对大鼠和小鼠的肝素辅因子II(HCII)基因的基因组结构进行了研究,并与人类的相应基因进行了比较。这些基因具有由五个外显子和四个内含子中断组成的共同核心结构,但小鼠和大鼠基因显示出各自独特的特征。大鼠基因的5'-非翻译区存在一个独特的差异剪接外显子,它很可能是由祖先基因内含子序列中的点突变从头产生的。在小鼠HCII基因中,由于存在一个额外的DNA片段,形成了一个新的内含子/外显子边界,该片段同时提供了一个3'-剪接位点和一个多嘧啶序列,导致使用了一个大小增加的可变外显子。我们的数据表明,与大多数其他哺乳动物基因不同,编码HCII的基因的外显子/内含子模式处于动态进化中。

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BMC Evol Biol. 2009 Aug 22;9:208. doi: 10.1186/1471-2148-9-208.
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Strain-dependent embryonic lethality and exaggerated vascular remodeling in heparin cofactor II-deficient mice.肝素辅因子II缺陷小鼠中品系依赖性胚胎致死率及过度的血管重塑
J Clin Invest. 2007 Jun;117(6):1514-26. doi: 10.1172/JCI27095.