Collura R V, Stewart C B
Department of Biological Sciences, University at Albany, State University of New York 12222, USA.
Nature. 1995 Nov 30;378(6556):485-9. doi: 10.1038/378485a0.
Using oligonucleotide primers designed to match conserved regions of mammalian mitochondrial DNA (mtDNA), we have amplified and sequenced two divergent cytochrome b nuclear pseudogenes from orangutan cellular DNA. Evolutionary analysis suggests that a nuclear transfer occurred about 30 million years ago on the lineage leading to the catarrhines (Old World monkeys and hominoids), and involved a long (at least 3 kilobases), probably damaged, piece of mtDNA. After this transfer, the pseudogene duplicated, giving rise to the two copies that are probably present in all hominoids, including humans. More recent transfers involving the entire cytochrome b gene have also occurred in the Old World monkeys. Such nuclear copies of mtDNA can confound phylogenetic and population genetic studies, and be an insidious source of DNA contamination of 'ancient' and forensic DNA. Indeed, contamination with these anciently transferred human pseudogenes is almost certainly the source of the cytochrome b sequences recently reported from 'dinosaur bone DNA'.
利用设计用于匹配哺乳动物线粒体DNA（mtDNA）保守区域的寡核苷酸引物，我们从猩猩细胞DNA中扩增并测序了两个不同的细胞色素b核假基因。进化分析表明，大约3000万年前，在通向狭鼻猿（旧世界猴和类人猿）的谱系上发生了一次核转移，涉及一段长（至少3千碱基）、可能已受损的mtDNA片段。这次转移之后，该假基因发生了复制，产生了可能存在于所有类人猿（包括人类）中的两个拷贝。旧世界猴中也发生了涉及整个细胞色素b基因的更近的转移。mtDNA的此类核拷贝会混淆系统发育和群体遗传学研究，并且是“古代”和法医DNA中DNA污染的一个潜在来源。实际上，最近从“恐龙骨DNA”报道的细胞色素b序列几乎肯定源于这些远古转移的人类假基因的污染。
