Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

被引:174
作者
Torroni, A
Rengo, C
Guida, V
Cruciani, F
Sellitto, D
Coppa, A
Calderon, FL
Simionati, B
Valle, G
Richards, M
Macaulay, V
Scozzari, R
机构
[1] Univ Pavia, Dipartimento Genet & Microbiol, I-27100 Pavia, Italy
[2] Univ Roma La Sapienza, Dipartimento Genet & Biol Mol, Rome, Italy
[3] Univ Roma La Sapienza, Dipartimento Biol Anim & Uomo, Rome, Italy
[4] Univ Cattolica Sacro Cuore, Ist Med Legale, Rome, Italy
[5] CNR, Ctr Genet Evoluzionist, Rome, Italy
[6] Museo Natl Hist Nat Santo Domingo, Santo Domingo, Dominican Rep
[7] Univ Padua, Ctr Ric Interdipartimentale Biotecnol Innovat, Padua, Italy
[8] Univ Huddersfield, Dept Chem & Biol Sci, Huddersfield HD1 3DH, W Yorkshire, England
[9] Univ Oxford, Dept Stat, Oxford OX1 3TG, England
关键词
D O I
10.1086/324511
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:1348 / 1356
页数:9
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