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Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa

Nature Genetics volume 23, pages 437–441 (1999)Cite this article

Abstract

The out-of-Africa scenario1 has hitherto provided little evidence for the precise route by which modern humans left Africa. Two major routes of dispersal have been hypothesized: one through North Africa into the Levant, documented by fossil remains2, and one through Ethiopia along South Asia, for which little, if any, evidence exists3. Mitochondrial DNA (mtDNA) can be used to trace maternal ancestry. The geographic distribution and variation of mtDNAs can be highly informative in defining potential range expansions and migration routes in the distant past. The mitochondrial haplogroup M, first regarded as an ancient marker of East-Asian origin4,5, has been found at high frequency in India6 and Ethiopia7, raising the question of its origin. (A haplogroup is a group of haplotypes that share some sequence variations.) Its variation and geographical distribution suggest that Asian haplogroup M separated from eastern-African haplogroup M more than 50,000 years ago. Two other variants (489C and 10873C) also support a single origin of haplogroup M in Africa. These findings, together with the virtual absence of haplogroup M in the Levant and its high frequency in the South-Arabian peninsula, render M the first genetic indicator for the hypothesized exit route from Africa through eastern Africa/western India. This was possibly the only successful early dispersal event of modern humans out of Africa.

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Figure 1: The full median network24 of RFLP and HVS-I variation in the eastern-African clade M1.
Figure 2: A most parsimonious tree for haplogroup M in India.
Figure 3: Phylogenetic position of the eastern-African M1 clade within the human mtDNA phylogeny.

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Acknowledgements

We thank F. Falaschi for the Kenya Oromo part of the samples; A. Torroni for information on the haplogroup M frequency in the South-Arabian peninsula; D. Toniolo for the use of the ABI sequencer; R. Ricotti for help in DNA sequencing; and V. Macaulay and S. Nørby for drawing our attention to the Ozawa et al. 15 and Ozawa 16 papers. This research was supported by the Ministry of University (PRIN ex 40%; to A.S.S.-B.). L.Q.-M. is a Marie Curie Fellow of the EC (ERBFMBICT-961830).

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  1. Lluís Quintana-Murci

    Present address: Unité d'Immunogénétique Humaine, Institut Pasteur, Paris, France

Authors and Affiliations

  1. Dipartimento di Genetica e Microbiologia, University of Pavia, Italy

    Lluís Quintana-Murci, Ornella Semino, Giuseppe Passarino & A. Silvana Santachiara-Benerecetti

  2. Mathematisches Seminar, Universität Hamburg, Germany

    Hans-J. Bandelt

  3. Dipartimento di Biologia Cellulare, University of Calabria, Italy

    Giuseppe Passarino

  4. Unité d'Immunogénétique Humaine, Institut Pasteur, Paris, France

    Ken McElreavey

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Correspondence to A. Silvana Santachiara-Benerecetti.

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Quintana-Murci, L., Semino, O., Bandelt, HJ. et al. Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa. Nat Genet 23, 437–441 (1999). https://doi.org/10.1038/70550

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