Mitochondrial DNA insertions in the nuclear horse genome
Mitochondrial DNA insertions in the nuclear horse genome
复制标题
DOI：
10.1111/j.1365-2052.2010.02130.x
复制
发表时间：
2010-12-01
期刊：
影响因子：
2.4
通讯作者：
Giulotto, E.
中科院分区：
文献类型：
--
作者：
Nergadze, S. G.;Lupotto, M.;Giulotto, E.
细胞核基因组中线粒体DNA的插入产生numts，即线粒体起源的核序列。在马的参考基因组中，我们鉴定了82个numts，并表明整个马的线粒体DNA都被表示为numts，没有明显的偏差。Numts在马核基因组的随机位置插入，可能是在DNA双链断裂修复过程中产生的。然后，我们分析了20匹不相干的马的12个numt位点，发现其中6个位点存在缺乏线粒体DNA插入的空等位基因。在一些位点上，空等位基因在分析的样本中普遍存在，这表明，在马种群中，numt位点的数量可能高于参考基因组中存在的82个。与人类相反，马种群中numts的插入多态性非常频繁，这支持了该物种基因组处于快速进化状态的假设。
P>The insertion of mitochondrial DNA in the nuclear genome generates numts, nuclear sequences of mitochondrial origin. In the horse reference genome, we identified 82 numts and showed that the entire horse mitochondrial DNA is represented as numts without gross bias. Numts were inserted in the horse nuclear genome at random sites and were probably generated during the repair of DNA double-strand breaks. We then analysed 12 numt loci in 20 unrelated horses and found that null alleles, lacking the mitochondrial DNA insertion, were present at six of these loci. At some loci, the null allele is prevalent in the sample analysed, suggesting that, in the horse population, the number of numt loci may be higher than 82 present in the reference genome. Contrary to humans, the insertion polymorphism of numts is extremely frequent in the horse population, supporting the hypothesis that the genome of this species is in a rapidly evolving state.