REGULAR ARTICLESS

Cell Research (1999), 9, 281-290

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

YUAN Jin Duo^{^1,2}, Jin Xiu SHI^¹, Guang Xun MENG^{^1,2}, Li Guo AN², Geng Xi HU¹

1. Shanghai Institute of Cell Biology and the Shanghai Life Science Center, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai 200031, China
2. Department of Biology, Shandong Normal University, Jinan 250014, China

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 ×10⁵bp of the mtDNA pseudo-genes in each haploid nuclear genome. Possible involvement of the mtDNA pseudogenes in the variable part of the human nuclear genome is discussed.

Key words: Gene amplification, genome instability, mitochondrial, pseudogene.

Table of Contents
Download as printable (PDF) file
Full Text (html)file

Home