Zevering C E, Moritz C, Heideman A, Sturm R A
Department of Zoology, University of Queensland, St. Lucia, Australia.
J Mol Evol. 1991 Nov;33(5):431-41. doi: 10.1007/BF02103135.
Analysis of mitochondrial DNAs (mtDNAs) from parthenogenetic lizards of the Heteronotia binoei complex with restriction enzymes revealed an approximately 5-kb addition present in all 77 individuals. Cleavage site mapping suggested the presence of a direct tandem duplication spanning the 16S and 12S rRNA genes, the control region and most, if not all, of the gene for the subunit 1 of NADH dehydrogenase (ND1). The location of the duplication was confirmed by Southern hybridization. A restriction enzyme survey provided evidence for modifications to each copy of the duplicated sequence, including four large deletions. Each gene affected by a deletion was complemented by an intact version in the other copy of the sequence, although for one gene the functional copy was heteroplasmic for another deletion. Sequencing of a fragment from one copy of the duplication which encompassed the tRNA(leu)(UUR) and parts of the 16S rRNA and ND1 genes, revealed mutations expected to disrupt function. Thus, evolution subsequent to the duplication event has resulted in mitochondrial pseudogenes. The presence of duplications in all of these parthenogens, but not among representatives of their maternal sexual ancestors, suggests that the duplications arose in the parthenogenetic form. This provides the second instance in H. binoei of mtDNA duplication associated with the transition from sexual to parthenogenetic reproduction. The increased incidence of duplications in parthenogenetic lizards may be caused by errors in mtDNA replication due to either polyploidy or hybridity of their nuclear genomes.
用限制性内切酶分析双色杂鳞蜥孤雌生殖种群的线粒体DNA(mtDNA),发现所有77个个体中都存在一个约5kb的新增片段。切割位点图谱分析表明,存在一个直接串联重复序列,其跨度包括16S和12S rRNA基因、控制区以及几乎全部(如果不是全部)的NADH脱氢酶亚基1(ND1)基因。通过Southern杂交证实了重复序列的位置。限制性内切酶检测为重复序列的每个拷贝的修饰提供了证据,包括四个大的缺失。每个受缺失影响的基因在序列的另一个拷贝中有一个完整版本作为补充,不过对于一个基因来说,功能拷贝在另一个缺失位点上是异质的。对重复序列的一个拷贝中包含tRNA(leu)(UUR)以及部分16S rRNA和ND1基因的片段进行测序,发现了预期会破坏功能的突变。因此,重复事件后的进化导致了线粒体假基因的产生。所有这些孤雌生殖个体中都存在重复序列,而在其母系有性生殖祖先的代表中却没有,这表明重复序列是在孤雌生殖形式中出现的。这是双色杂鳞蜥中与从有性生殖向孤雌生殖转变相关的mtDNA重复的第二个实例。孤雌生殖蜥蜴中重复序列发生率的增加可能是由于其核基因组的多倍体或杂交导致mtDNA复制错误引起的。