Cerezo, Maria, Gusmao, Leonor ORCID: 0000-0003-0432-6481, Cerny, Viktor, Uddin, Nabeel, Syndercombe-Court, Denise, Gomez-Carballa, Alberto ORCID: 0000-0003-0927-1272, Goebel, Tanja, Schneider, Peter M. ORCID: 0000-0003-0744-2349 and Salas, Antonio ORCID: 0000-0002-2336-702X (2016). Comprehensive Analysis of Pan-African Mitochondrial DNA Variation Provides New Insights into Continental Variation and Demography. J. Genet. Genomics, 43 (3). S. 133 - 144. BEIJING: SCIENCE PRESS. ISSN 1873-5533

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Cerezo, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gusmao, LeonorUNSPECIFIEDorcid.org/0000-0003-0432-6481UNSPECIFIED
Cerny, ViktorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Uddin, NabeelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Syndercombe-Court, DeniseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gomez-Carballa, AlbertoUNSPECIFIEDorcid.org/0000-0003-0927-1272UNSPECIFIED
Goebel, TanjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneider, Peter M.UNSPECIFIEDorcid.org/0000-0003-0744-2349UNSPECIFIED
Salas, AntonioUNSPECIFIEDorcid.org/0000-0002-2336-702XUNSPECIFIED
URN: urn:nbn:de:hbz:38-281146
DOI: 10.1016/j.jgg.2015.09.005
Journal or Publication Title: J. Genet. Genomics
Volume: 43
Number: 3
Page Range: S. 133 - 144
Date: 2016
Publisher: SCIENCE PRESS
Place of Publication: BEIJING
ISSN: 1873-5533
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Y-CHROMOSOME; GENE FLOW; MTDNA; POPULATION; ANCIENT; EXPANSIONS; HAPLOGROUP; DIVERSITY; ANCESTRY; SEQUENCEMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/28114

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