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线粒体DNA的多拷贝核假基因揭示了人类基因组中近期的急性遗传变化。

Multi-copy nuclear pseudogenes of mitochondrial DNA reveal recent acute genetic changes in the human genome.

作者信息

Hu G, Thilly W G

机构信息

Center for Environmental Health Sciences, Massachusetts Institute of Technology, Cambridge 02139, USA.

出版信息

Curr Genet. 1995 Oct;28(5):410-4. doi: 10.1007/BF00310808.

Abstract

Four nuclear pseudogenes homologous to the 10031-10195-bp region of the human mitochondrial genome were detected by constant denaturant capillary electrophoresis. Among them, one pseudogene is present as at least five copies in each cell, in accordance with our previous observations of multi-copy mitochondrial DNA pseudogenes. The presence of multiple identical copies of pseudogenes suggests that the human genome underwent a series of genetic changes, including gene amplifications, very recently in evolutionary history, i.e., within the last 390000 years.

摘要

通过恒变性毛细管电泳检测到与人类线粒体基因组10031 - 10195碱基对区域同源的四个核假基因。其中,一个假基因在每个细胞中至少以五个拷贝的形式存在,这与我们之前对多拷贝线粒体DNA假基因的观察结果一致。假基因多个相同拷贝的存在表明,人类基因组在进化历史的最近时期,即在过去39万年之内,经历了一系列包括基因扩增在内的遗传变化。

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