Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears

Kivisild, Toomas; Reidla, Maere; Metspalu, Ene; Rosa, Alexandra; Brehm, António; Pennarun, Erwan; Parik, Jüri; Geberhiwot, Tarekegn; Usanga, E.A.; Villems, Richard

doi:10.1086/425161

Cited by 230 publications

(277 citation statements)

References 64 publications

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“…Fig. 3; L3i* lineages cannot be identified from HVS-I screening) have been previously described in Ethiopia (~3%), two-thirds of them in Eastern Nilotic and the remainder in Afroasiatic speakers (Kivisild et al 2004;Poloni et al 2009). …”

Section: Phylogeography Of Ugandan Lineagesmentioning

confidence: 75%

“…L0a, were considered likely assimilated in Central or East Africa. The distribution of haplogroups L0f, L3f, L5a, L5b, L6 and L4b2, as well as L0a, appears to be centred on Eastern African populations, with L3i1 seen mainly in Eastern Nilotic speakers (Castri et al 2009;Černý et al 2007;Coudray et al 2009;Kivisild et al 2004;Poloni et al 2009;Salas et al 2002). L0d and L0k are characteristic of Khoisan-speaking populations Černý et al 2007;Plaza et al 2004;Quintana-Murci et al 2010;Salas et al 2002), and within the largely Central African haplogroup L1c, at least L1c1a was considered to have an origin amongst Western Pygmy ancestors (Batini et al 2007;Quintana-Murci et al 2010).…”

Section: Phylogeography Of Ugandan Lineagesmentioning

confidence: 99%

“…3), both of which highly informative, albeit pointing in different directions. Although rare, haplogroup L3h is present across Eastern Africa (Kivisild et al 2004;Poloni et al 2009;Soares et al 2012;Tishkoff et al 2007). It dates to ~55.1 ka (Soares et al 2014) with the two basal subclades L3h1 and L3h2 dating to ~47 ka (Behar et al 2012) and L3h2 to ~31 ka (from our HVS-I network).…”

Section: Phylogeography Of Ugandan Lineagesmentioning

confidence: 99%

“…This is reflected in a substantial Eurasian autosomal component in Eastern Africa, which is also evident to some extent in Kenya (Pagani et al 2012). Due to deep ancestry and the distribution of these lineages (Abu-Amero et al 2008;Brakez et al 2001;Černý et al 2008;Coudray et al 2009;Fernandes et al 2012;Kivisild et al 2004;Olivieri et al 2006;Rhouda et al 2009;Richards et al 2000;Richards et al 2003), none of the West Eurasian mtDNAs found in Uganda has a likely European source, for example resulting from the heavy European colonial involvement since the 1870s (Maxon 2009). One possibility is a Bronze-Age dispersal from the Near East accompanying the spread of Semitic languages (Kitchen et al 2009), consistent with an 18 inferred Levantine (rather than Arabian) source (Pagani et al 2012).…”

Section: Phylogeography Of "Eurasian" Lineages In Ugandamentioning

confidence: 99%

“…A similar conclusion was reached by Henn et al (2011), who An alternative explanation for the high genetic diversity in Eastern Africa might (at least in part) be admixture between a number of genetically divergent human populations (Hassan et al 2008;Poloni et al 2009). For example, not only has Ethiopia experienced both ancient and recent gene flow from Eurasia (Kivisild et al 2004;Olivieri et al 2006;Pagani et al 2012;Richards et al 2003), but Eastern Africa in general exhibits high environmental, economic, social, cultural and linguistic diversity, as illustrated, for instance, by a number of surviving foraging populations in Tanzania (Campbell and Tishkoff 2010). The Great Lakes region in particular has, on the evidence of historical linguistics and archaeology, been the meeting point of diverse African groups for millennia (Maxon 2009;Newman 1995;Phillipson 2005;Poloni et al 2009;Tishkoff et al 2009).…”

Section: Introductionmentioning

confidence: 99%

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Mosaic maternal ancestry in the Great Lakes region of East Africa

et al. 2015

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The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical linguistics and oral traditions, with attempts to match up the archaeological evidence where possible. This is an obvious area to which archaeogenetics can contribute, yet Uganda, at the heart of these developments, has not been studied for mitochondrial DNA (mtDNA) variation. Here, we compare mtDNA lineages at this putative genetic crossroads across 409 representatives of the major language groups: Bantu speakers and Eastern and Western Nilotic speakers. We show that Uganda harbours one of the highest mtDNA diversities within and between linguistic groups, with the various groups significantly differentiated from each other. Despite an inferred linguistic origin in South Sudan, the data from the two Nilotic-speaking groups point to a much more complex history, involving not only possible dispersals from Sudan and the Horn but also large-scale assimilation of autochthonous lineages within East Africa and even Uganda itself. The Eastern Nilotic group also carries signals characteristic of West-Central Africa, primarily due to Bantu influence, whereas a much stronger signal in the Western Nilotic group suggests direct West-Central African ancestry. Bantu speakers share lineages with both Nilotic groups, and also harbour East African lineages not found in Western Nilotic speakers, likely due to assimilating indigenous populations since arriving in the region ~3000 years ago.

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Section: Phylogeography Of Ugandan Lineagesmentioning

confidence: 75%

Section: Phylogeography Of Ugandan Lineagesmentioning

confidence: 99%

Section: Phylogeography Of Ugandan Lineagesmentioning

confidence: 99%

Section: Phylogeography Of "Eurasian" Lineages In Ugandamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Mosaic maternal ancestry in the Great Lakes region of East Africa

et al. 2015

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Mitochondrial Genome Sequences and Their Phylogeographic Interpretation

Macaulay

Richards

2013

Encyclopedia of Life Sciences

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The strong phylogenetic signal provided by mitochondrial deoxyribonucleic acid (mtDNA) sequences within species is being exploited to reconstruct the maternal genealogy and anchor it in space and time. This is the starting point for interpretations of the processes in population history that led to those patterns, as illustrated here for humans. Mitochondrial phylogeography began by revolutionising our view of modern human origins, with the demonstration that modern humans dispersed from Africa approximately 60 000 years ago. Now benefitting from the high genealogical and chronological resolution afforded by whole‐mtDNA sequences, and despite the advent of genome‐wide analyses, mtDNA continues to illuminate prehistoric settlement and dispersal history. It has often led to challenges to received wisdom, such as the stress on pre‐Neolithic dispersals at the end of the Ice Age in many parts of the world, and the database of contemporary variation is currently being augmented by rapidly increasing information from ancient DNA. Key Concepts: Mitochondrial DNA is now routinely analysed at the level of whole‐mtDNA genome sequences. The human mtDNA gene tree is an estimate of the maternal genealogy and preserves a record of the dispersal history of our species, in the distribution of its branching points in space and time, or ‘phylogeography’. A time scale is provided by an independently calibrated mutation rate, the ‘molecular clock’, which is now available for whole‐mtDNA sequences and allows for the effects of purifying selection. Although phylogeographic inference can be criticised for lacking a formal hypothesis testing framework, proposed alternatives based on simulation are currently insufficient to tackle the nuances of real human dispersal histories. Variation in mtDNA has led to a number of revolutionary models in human evolutionary history, beginning with the African origin of modern humans. More recent suggestions have included a single southern‐coastal dispersal route out of Africa and the importance to the shaping of extant human diversity of hunter–gatherer dispersals and expansions at the end of the last Ice Age. An increasing volume of data from ancient DNA holds great promise not only for testing interpretations of contemporary variation but also for identifying both ancient processes that left no trace in the modern gene pool and more recent dispersals that studying extant cannot resolve. Genome‐wide analyses now allow both testing of hypotheses arising from mtDNA studies and access to many previously unanswerable questions, but mtDNA nevertheless retains a vital role due to its relative genealogical and chronological precision.

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