title: Digging deeper into East African human Y chromosome lineages.
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.
authors.affiliation: Institute of Molecular Pathology and Immunology of University of Porto (IPATIMUP), Rua Dr. Roberto Frias, s/n, 4200-465 Porto, Portugal.
authors.forename: Verónica
authors.initials: V
authors.lastname: Gomes
authors.forename: Paula
authors.initials: P
authors.lastname: Sánchez-Diz
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
mesh_terms: D000351:Africa, Eastern; D044383:Black People / Q000235:genetics*; D002874:Chromosome Mapping; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003466:Cultural Characteristics; D004641:Emigration and Immigration; D005006:Ethnicity / Q000235:genetics; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007802:Language; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D014454:Uganda