Nuclear pseudogenes of mitochnodrial DNA as a vari- able part of the human genome

摘要

Novel pseudogenes homologous to the mitochondrial (mt)16S rRNA gene were detected via different ap- proaches. 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 hu- man yeast artificial chromosome(YAC)ibraries showed that there were at least 5.7×10~5 bp of the mtDNA pseu- dogenes in each haploid nuclear genome. Possible involve- ment of the mtDNA pseudogenes in the variable part of the human nuclear genome is discussed.