title: Mosaic maternal ancestry in the Great Lakes region of East Africa.
abstract: 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.
authors.affiliation: Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
authors.forename: Verónica
authors.initials: V
authors.lastname: Gomes
authors.forename: Maria
authors.initials: M
authors.lastname: Pala
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
authors.forename: Vanesa
authors.initials: V
authors.lastname: Álvarez-Iglesias
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Alberto
authors.initials: A
authors.lastname: Gómez-Carballa
authors.forename: Ángel
authors.initials: Á
authors.lastname: Carracedo
authors.forename: Douglas J
authors.initials: DJ
authors.lastname: Clarke
authors.forename: Catherine
authors.initials: C
authors.lastname: Hill
authors.forename: Maru
authors.initials: M
authors.lastname: Mormina
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Shaw
authors.forename: David W
authors.initials: DW
authors.lastname: Dunne
authors.forename: Rui
authors.initials: R
authors.lastname: Pereira
authors.forename: Vânia
authors.initials: V
authors.lastname: Pereira
authors.forename: Maria João
authors.initials: MJ
authors.lastname: Prata
authors.forename: Paula
authors.initials: P
authors.lastname: Sánchez-Diz
authors.forename: Teresa
authors.initials: T
authors.lastname: Rito
authors.forename: Pedro
authors.initials: P
authors.lastname: Soares
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
authors.forename: Martin B
authors.initials: MB
authors.lastname: Richards
mesh_terms: D044383:Black People / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D010802:Phylogeny; D058974:Phylogeography; D025341:Principal Component Analysis; D014454:Uganda
chemical_list: D004272:DNA, Mitochondrial