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      60,000 years of interactions between Central and Eastern Africa documented by major African mitochondrial haplogroup L2

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          Abstract

          Mitochondrial DNA (mtDNA) haplogroup L2 originated in Western Africa but is nowadays spread across the entire continent. L2 movements were previously postulated to be related to the Bantu expansion, but L2 expansions eastwards probably occurred much earlier. By reconstructing the phylogeny of L2 (44 new complete sequences) we provide insights on the complex net of within-African migrations in the last 60 thousand years (ka). Results show that lineages in Southern Africa cluster with Western/Central African lineages at a recent time scale, whereas, eastern lineages seem to be substantially more ancient. Three moments of expansion from a Central African source are associated to L2: (1) one migration at 70–50 ka into Eastern or Southern Africa, (2) postglacial movements (15–10 ka) into Eastern Africa; and (3) the southward Bantu Expansion in the last 5 ka. The complementary population and L0a phylogeography analyses indicate no strong evidence of mtDNA gene flow between eastern and southern populations during the later movement, suggesting low admixture between Eastern African populations and the Bantu migrants. This implies that, at least in the early stages, the Bantu expansion was mainly a demic diffusion with little incorporation of local populations.

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          The genetic structure and history of Africans and African Americans.

          Africa is the source of all modern humans, but characterization of genetic variation and of relationships among populations across the continent has been enigmatic. We studied 121 African populations, four African American populations, and 60 non-African populations for patterns of variation at 1327 nuclear microsatellite and insertion/deletion markers. We identified 14 ancestral population clusters in Africa that correlate with self-described ethnicity and shared cultural and/or linguistic properties. We observed high levels of mixed ancestry in most populations, reflecting historical migration events across the continent. Our data also provide evidence for shared ancestry among geographically diverse hunter-gatherer populations (Khoesan speakers and Pygmies). The ancestry of African Americans is predominantly from Niger-Kordofanian (approximately 71%), European (approximately 13%), and other African (approximately 8%) populations, although admixture levels varied considerably among individuals. This study helps tease apart the complex evolutionary history of Africans and African Americans, aiding both anthropological and genetic epidemiologic studies.
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            Stratigraphic placement and age of modern humans from Kibish, Ethiopia.

            In 1967 the Kibish Formation in southern Ethiopia yielded hominid cranial remains identified as early anatomically modern humans, assigned to Homo sapiens. However, the provenance and age of the fossils have been much debated. Here we confirm that the Omo I and Omo II hominid fossils are from similar stratigraphic levels in Member I of the Kibish Formation, despite the view that Omo I is more modern in appearance than Omo II. 40Ar/39Ar ages on feldspar crystals from pumice clasts within a tuff in Member I below the hominid levels place an older limit of 198 +/- 14 kyr (weighted mean age 196 +/- 2 kyr) on the hominids. A younger age limit of 104 +/- 7 kyr is provided by feldspars from pumice clasts in a Member III tuff. Geological evidence indicates rapid deposition of each member of the Kibish Formation. Isotopic ages on the Kibish Formation correspond to ages of Mediterranean sapropels, which reflect increased flow of the Nile River, and necessarily increased flow of the Omo River. Thus the 40Ar/39Ar age measurements, together with the sapropel correlations, indicate that the hominid fossils have an age close to the older limit. Our preferred estimate of the age of the Kibish hominids is 195 +/- 5 kyr, making them the earliest well-dated anatomically modern humans yet described.
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              African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping.

              Comparative studies of ethnically diverse human populations, particularly in Africa, are important for reconstructing human evolutionary history and for understanding the genetic basis of phenotypic adaptation and complex disease. African populations are characterized by greater levels of genetic diversity, extensive population substructure, and less linkage disequilibrium (LD) among loci compared to non-African populations. Africans also possess a number of genetic adaptations that have evolved in response to diverse climates and diets, as well as exposure to infectious disease. This review summarizes patterns and the evolutionary origins of genetic diversity present in African populations, as well as their implications for the mapping of complex traits, including disease susceptibility.
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                Author and article information

                Journal
                Sci Rep
                Sci Rep
                Scientific Reports
                Nature Publishing Group
                2045-2322
                27 July 2015
                2015
                : 5
                : 12526
                Affiliations
                [1 ]IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto) , 4200-465 Porto, Portugal
                [2 ]General Department of Forensic Sciences & Criminology, Dubai Police GHQ , 1493 Dubai, United Arab Emirates
                [3 ]Faculdade de Medicina da Universidade do Porto , 4200–319 Porto, Portugal
                [4 ]i3S (Instituto de Investigação e Inovação em Saúde, Universidade do Porto) , 4200 Porto, Portugal
                [5 ]Faculdade de Medicina, Universidade Eduardo Mondlane , 257 Maputo, Moçambique
                [6 ]Hospital Central de Maputo , 1164 Maputo, Moçambique
                [7 ]Departamento de Saúde Mental, Ministério da Saúde , 14 Maputo, Moçambique
                [8 ]Instituto Gulbenkian Ciência , 2780-156 Oeiras, Portugal
                [9 ]Centro Nacional de Endemias , CP 23, São Tomé e Príncipe
                [10 ]Department of Anthropology and Human Genetics, Faculty of Science, Charles University , 128-43 Prague, Czech Republic
                [11 ]CBMA (Centro de Biologia Molecular e Ambiental), Departamento de Biologia, Universidade do Minho , 4710-057 Braga, Portugal
                Author notes
                Article
                srep12526
                10.1038/srep12526
                4515592
                26211407
                69c6a78e-2875-4284-98c4-6d411a039d1f
                Copyright © 2015, Macmillan Publishers Limited

                This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

                History
                : 11 March 2015
                : 30 June 2015
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