Comprehensive Analysis of Pan-African Mitochondrial DNA Variation Provides New Insights into Continental Variation and Demography

a.
Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia 15782, Spain
b.
The Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
c.
DNA Diagnostic Laboratory, Institute of Biology, State University of Rio de Janeiro, Rio de Janeiro 20550-900, Brazil
d.
IPATIMUP Institute of Molecular Pathology and Immunology of the University of Porto, Porto 4200-465, Portugal
e.
Archaeogenetics Laboratory, Institute of Archaeology of the Academy of Sciences of the Czech Republic, Prague 118-01, Czech Republic
f.
Faculty of Life Sciences and Medicine, King's College London, London SE1 9NH, UK
g.
Barts and The London School of Medicine and Dentistry, Blizard Institute, London E1 2AT, UK
h.
Institute of Legal Medicine, Medical Faculty, University of Cologne, Cologne D-50823, Germany

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Corresponding author: E-mail address: antonio.salas@usc.es (Antonio Salas)

These authors contributed equally to this work.

摘要

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Abstract: Africa is the cradle of all human beings, and although it has been the focus of a number of genetic studies, there are many questions that remain unresolved. We have performed one of the largest and most comprehensive meta-analyses of mitochondrial DNA (mtDNA) lineages carried out in the African continent to date. We generated high-throughput mtDNA single nucleotide polymorphism (SNP) data (230 SNPs) from 2024 Africans, where more than 500 of them were additionally genotyped for the control region. These data were analyzed together with over 12,700 control region profiles collected from the literature, representing more than 300 population samples from Africa. Insights into the African homeland of humans are discussed. Phylogeographic patterns for the African continent are shown at a high phylogeographic resolution as well as at the population and regional levels. The deepest branch of the mtDNA tree, haplogroup L0, shows the highest sub-haplogroup diversity in Southeast and East Africa, suggesting this region as the homeland for modern humans. Several demographic estimates point to the coast as a facilitator of human migration in Africa, but the data indicate complex patterns, perhaps mirroring the effect of recent continental-scaled demographic events in re-shaping African mtDNA variability.
- mtDNA /
- Haplotype /
- Haplogroup /
- SNP /
- MALDI-TOF
These authors contributed equally to this work.
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