Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?

A. Torronii, C. Rengo, V. Guida, F. Cruciani, D. Sellitto, A. Coppa, F. L. Calderon, B. Simionati, G. Valle, M. Richards, V. Macaulay, R. Scozzari

Research output: Contribution to journalArticle

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Abstract

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 dock. 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 dues about African prehistory and the origin and relationships of African ethnic groups.

Original languageEnglish
Pages (from-to)1348-1356
Number of pages9
JournalAmerican Journal of Human Genetics
Volume69
Issue number6
Early online date10 Oct 2001
DOIs
Publication statusPublished - Dec 2001

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Mitochondrial DNA
Dominican Republic
Genetic Drift
Phylogeny
Ethnic Groups
Restriction Fragment Length Polymorphisms
Sequence Analysis
Mutation
Population
Datasets
Surveys and Questionnaires

Cite this

Torronii, A., Rengo, C., Guida, V., Cruciani, F., Sellitto, D., Coppa, A., ... Scozzari, R. (2001). Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates? American Journal of Human Genetics, 69(6), 1348-1356. https://doi.org/10.1086/324511
Torronii, A. ; Rengo, C. ; Guida, V. ; Cruciani, F. ; Sellitto, D. ; Coppa, A. ; Calderon, F. L. ; Simionati, B. ; Valle, G. ; Richards, M. ; Macaulay, V. ; Scozzari, R. / Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?. In: American Journal of Human Genetics. 2001 ; Vol. 69, No. 6. pp. 1348-1356.
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Torronii, A, Rengo, C, Guida, V, Cruciani, F, Sellitto, D, Coppa, A, Calderon, FL, Simionati, B, Valle, G, Richards, M, Macaulay, V & Scozzari, R 2001, 'Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?', American Journal of Human Genetics, vol. 69, no. 6, pp. 1348-1356. https://doi.org/10.1086/324511

Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates? / Torronii, A.; Rengo, C.; Guida, V.; Cruciani, F.; Sellitto, D.; Coppa, A.; Calderon, F. L.; Simionati, B.; Valle, G.; Richards, M.; Macaulay, V.; Scozzari, R.

In: American Journal of Human Genetics, Vol. 69, No. 6, 12.2001, p. 1348-1356.

Research output: Contribution to journalArticle

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Torronii A, Rengo C, Guida V, Cruciani F, Sellitto D, Coppa A et al. Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates? American Journal of Human Genetics. 2001 Dec;69(6):1348-1356. https://doi.org/10.1086/324511