线粒体DNA的核假基因作为人类基因组的可变部分。

Nuclear pseudogenes of mitochondrial DNA as a variable part of the human genome.

作者信息

Yuan J D, Shi J X, Meng G X, An L G, Hu G X

机构信息

Shanghai Institute of Cell Biology and the Shanghai Life Science Center, Chinese Academy of Sciences.

出版信息

Cell Res. 1999 Dec;9(4):281-90. doi: 10.1038/sj.cr.7290027.

DOI:10.1038/sj.cr.7290027

PMID:10628837

Abstract

Novel pseudogenes homologous to the mitochondrial (mt) 16S rRNA gene were detected via different approaches. Eight pseudogenes were sequenced. Copy number polymorphism of the mtDNA pseudogenes was observed among randomly chosen individuals, and even among siblings. A mtDNA pseudogene in the Y-chromosome was observed in a YAC clone carrying only repetitive sequence tag site (STS). PCR screening of human yeast artificial chromosome (YAC) libraries showed that there were at least 5.7 x 10(5) bp of the mtDNA pseudogenes in each haploid nuclear genome. Possible involvement of the mtDNA pseudogenes in the variable part of the human nuclear genome is discussed.

摘要

通过不同方法检测到了与线粒体（mt）16S rRNA基因同源的新型假基因。对8个假基因进行了测序。在随机选择的个体中，甚至在兄弟姐妹之间，都观察到了mtDNA假基因的拷贝数多态性。在一个仅携带重复序列标签位点（STS）的YAC克隆中观察到Y染色体上的一个mtDNA假基因。对人类酵母人工染色体（YAC）文库进行PCR筛选表明，每个单倍体核基因组中至少有5.7×10⁵ bp的mtDNA假基因。讨论了mtDNA假基因可能参与人类核基因组可变部分的情况。