Original Investigation

Human Genetics

, Volume 127, Issue 5, pp 603-613

First online:

Digging deeper into East African human Y chromosome lineages

  • Verónica GomesAffiliated withInstitute of Molecular Pathology and Immunology of University of Porto (IPATIMUP)Genomics Medicine Group, Institute of Legal Medicine, CIBER for Rare Diseases (CIBERER), University of Santiago de Compostela
  • , Paula Sánchez-DizAffiliated withGenomics Medicine Group, Institute of Legal Medicine, CIBER for Rare Diseases (CIBERER), University of Santiago de Compostela
  • , António AmorimAffiliated withInstitute of Molecular Pathology and Immunology of University of Porto (IPATIMUP)Faculty of Sciences, University of Porto
  • , Ángel CarracedoAffiliated withGenomics Medicine Group, Institute of Legal Medicine, CIBER for Rare Diseases (CIBERER), University of Santiago de Compostela
  • , Leonor GusmãoAffiliated withInstitute of Molecular Pathology and Immunology of University of Porto (IPATIMUP) Email author 

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Abstract

The most significant and widely studied remodeling of the African genetic landscape is the Bantu expansion, which led to an almost total replacement of the previous populations from the sub-Saharan region. However, a poor knowledge exists about other population movements, namely, the Nilotic migration, which is a pastoralist dispersal that, contrary to the Bantu expansion, impacted only East African populations. Here, samples from a Ugandan Nilotic-speaking population were studied for 37 Y chromosome-specific SNPs, and the obtained data were compared with those already available for other sub-Saharan population groups. Although Uganda lies on the fringe of both Bantu and Nilotic expansions, a low admixture with Bantu populations was detected, with haplogroups carrying M13, M182 and M75 mutations prevailing in Nilotes together with a low frequency of the main Bantu haplogroups from clade E1b1a-M2. The results of a comparative analysis with data from other population groups allowed a deeper characterization of some lineages in our sample, clarifying some doubts about the origin of some particular Y-SNPs in different ethnic groups, such as M150, M112 and M75. Moreover, it was also possible to identify a new Y-SNP apparently specific to Nilotic groups, as well as the presence of particular haplogroups that characterize Nilotic populations. The detection of a new haplogroup B2a1b defined by G1, could be, therefore, important to differentiate Nilotes from other groups, helping to trace migration and admixture events that occurred in eastern Africa.