Tourmen Yves, Baris Olivier, Dessen Philippe, Jacques Caroline, Malthièry Yves, Reynier Pascal
INSERM EMI-U 00-18, Laboratoire de Biochimie et Biologie Moléculaire, CHU d'Angers, Angers, F-49033, France.
Genomics. 2002 Jul;80(1):71-7. doi: 10.1006/geno.2002.6798.
Nuclear mitochondrial pseudogenes (Numts) have been found in the genome of many eukaryote species, including humans. Using a BLAST approach, we found 1105 DNA sequences homologous to mitochondrial DNA (mtDNA) in the August 2001 Goldenpath human genome database. We assembled these sequences manually into 286 pseudogenes on the basis of single insertion events and constructed a chromosomal map of these Numts. Some pseudogenes appeared highly modified, containing inversions, deletions, duplications, and displaced sequences. In the case of four randomly selected Numts, we used PCR tests on cells lacking mtDNA to ensure that our technique was free from genome-sequencing artifacts. Furthermore, phylogenetic investigation suggested that one Numt, apparently inserted into the nuclear genome 25-30 million years ago, had been duplicated at least 10 times in various chromosomes during the course of evolution. Thus, these pseudogenes should be very useful in the study of ancient mtDNA and nuclear genome evolution.
在包括人类在内的许多真核生物物种的基因组中都发现了核线粒体假基因（Numts）。通过BLAST方法，我们在2001年8月的Goldenpath人类基因组数据库中发现了1105个与线粒体DNA（mtDNA）同源的DNA序列。我们基于单个插入事件将这些序列手动组装成286个假基因，并构建了这些Numts的染色体图谱。一些假基因出现了高度修饰，包含倒位、缺失、重复和移位序列。对于四个随机选择的Numts，我们对缺乏mtDNA的细胞进行了PCR测试，以确保我们的技术没有基因组测序假象。此外，系统发育研究表明，一个显然在2500万至3000万年前插入核基因组的Numt在进化过程中至少在不同染色体上重复了10次。因此，这些假基因在古代mtDNA和核基因组进化研究中应该非常有用。
