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Open Access Highly Accessed Research article

Mitochondrial lineage M1 traces an early human backflow to Africa

Ana M González1*, José M Larruga1, Khaled K Abu-Amero2, Yufei Shi2, José Pestano3 and Vicente M Cabrera1

  • * Corresponding author: Ana M González amglez@ull.es

  • † Equal contributors

Author Affiliations

1 Department of Genetics, Faculty of Biology, University of La Laguna, Tenerife 38271, Spain

2 Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh 11211, Saudi Arabia

3 Department of Genetics, Faculty of Medicine, University of Las Palmas de Gran Canaria, Las Palmas 35080, Spain

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BMC Genomics 2007, 8:223  doi:10.1186/1471-2164-8-223

Published: 9 July 2007

Abstract

Background

The out of Africa hypothesis has gained generalized consensus. However, many specific questions remain unsettled. To know whether the two M and N macrohaplogroups that colonized Eurasia were already present in Africa before the exit is puzzling. It has been proposed that the east African clade M1 supports a single origin of haplogroup M in Africa. To test the validity of that hypothesis, the phylogeographic analysis of 13 complete mitochondrial DNA (mtDNA) sequences and 261 partial sequences belonging to haplogroup M1 was carried out.

Results

The coalescence age of the African haplogroup M1 is younger than those for other M Asiatic clades. In contradiction to the hypothesis of an eastern Africa origin for modern human expansions out of Africa, the most ancestral M1 lineages have been found in Northwest Africa and in the Near East, instead of in East Africa. The M1 geographic distribution and the relative ages of its different subclades clearly correlate with those of haplogroup U6, for which an Eurasian ancestor has been demonstrated.

Conclusion

This study provides evidence that M1, or its ancestor, had an Asiatic origin. The earliest M1 expansion into Africa occurred in northwestern instead of eastern areas; this early spread reached the Iberian Peninsula even affecting the Basques. The majority of the M1a lineages found outside and inside Africa had a more recent eastern Africa origin. Both western and eastern M1 lineages participated in the Neolithic colonization of the Sahara. The striking parallelism between subclade ages and geographic distribution of M1 and its North African U6 counterpart strongly reinforces this scenario. Finally, a relevant fraction of M1a lineages present today in the European Continent and nearby islands possibly had a Jewish instead of the commonly proposed Arab/Berber maternal ascendance.