Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A, Calderon F L, Simionati B, Valle G, Richards M, Macaulay V, Scozzari R
Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy.
Am J Hum Genet. 2001 Dec;69(6):1348-56. doi: 10.1086/324511. Epub 2001 Oct 10.
Forty-seven mtDNAs collected in the Dominican Republic and belonging to the African-specific haplogroup L2 were studied by high-resolution RFLP and control-region sequence analyses. Four sets of diagnostic markers that subdivide L2 into four clades (L2a-L2d) were identified, and a survey of published African data sets appears to indicate that these clades encompass all L2 mtDNAs and harbor very different geographic/ethnic distributions. One mtDNA from each of the four clades was completely sequenced by means of a new sequencing protocol that minimizes time and expense. The phylogeny of the L2 complete sequences showed that the two mtDNAs from L2b and L2d seem disproportionately derived, compared with those from L2a and L2c. This result is not consistent with a simple model of neutral evolution with a uniform molecular clock. The pattern of nonsynonymous versus synonymous substitutions hints at a role for selection in the evolution of human mtDNA. Regardless of whether selection is shaping the evolution of modern human mtDNAs, the population screening of L2 mtDNAs for the mutations identified by our complete sequence study should allow the identification of marker motifs of younger age with more restricted geographic distributions, thus providing new clues about African prehistory and the origin and relationships of African ethnic groups.
对在多米尼加共和国收集的47个属于非洲特异性单倍群L2的线粒体DNA(mtDNA)进行了高分辨率限制性片段长度多态性(RFLP)和控制区序列分析。确定了四组诊断标记,可将L2细分为四个分支(L2a - L2d),对已发表的非洲数据集的调查似乎表明,这些分支涵盖了所有L2 mtDNA,且具有非常不同的地理/种族分布。通过一种新的测序方案对四个分支中的每个分支的一个mtDNA进行了完全测序,该方案将时间和费用降至最低。L2完整序列的系统发育表明,与来自L2a和L2c的序列相比,来自L2b和L2d的两个mtDNA似乎有不成比例的衍生。这一结果与具有统一分子钟的简单中性进化模型不一致。非同义替换与同义替换的模式暗示了选择在人类mtDNA进化中的作用。无论选择是否正在塑造现代人类mtDNA的进化,对L2 mtDNA进行群体筛选以寻找我们的完整序列研究中鉴定出的突变,应该能够识别出年龄更年轻、地理分布更受限的标记基序,从而为非洲史前史以及非洲族群的起源和关系提供新的线索。