Insights into the Y chromosome human diversity in Uruguay

Abstract

AbstractBackgroundWith regard to the origin of its population and microevolutionary processes, Uruguay exhibits distinctive features that distinguish it from other countries in Latin America, while at the same time sharing several similarities. In this article, we will focus on the variability of paternal genetic lineages in two geographical regions with different histories that can be considered as examples of distinct populations for the continent. In general terms, the genetic diversity is a result of different demographic processes related to the American conquest and colonisation. These resulted in distinct ancestral components which vary geographical and depend on the distribution by sex within these components. In Uruguay, native maternal haplogroups are significantly more frequent in the North. Although there are several studies about the geneticvariability of Uruguay, little is known about male genetic lineages.AimsThe aim of this work is to present an updated study of the male genetic variability of the Uruguayan population.MethodsWe analyzed 13 biallelic markers and 27 STRs located in the male‐specific region of the Y chromosome for 157 males: 98 from the capital, Montevideo, and 59 from Tacuarembó.ResultsAlmost all haplogroups found in both locations are European (99% and 93.2% respectively). One Sub‐Saharan African haplogroup was found in Montevideo (1%) and 2 in Tacuarembó (3%), while Native haplogroups were found only in Tacuarembó, evidencing a strong sex‐biased admixture. By crossing genetic and genealogical information we could relate European haplogroups with different waves and times of migrations.DiscussionNetwork analysis indicated a very diverse male population, suggesting that European migrants came from heterogeneous geographic locations and in different waves. Tacuarembó has closer population affinities with Iberian populations while Montevideo is more diverse. Male population expansion expansion, can be explained by the large number of migrants that arrived during the XIX century and the first half of the XX century.ConclusionsThe Uruguayan male gene pool is the result of several migration waves with diverse origins, with strong sex‐biased admixture that can be explained by the European migration, the violence against the indigenous males, and the segregation of the Africansadmixture that can be explained due to European migration, violence against Natives, and segregation against African males.admixture that can be explained due to European migration, violence against Natives, and segregation against African males.admixture that can be explained due to European migration, violence against Natives, and segregation against African males.admixture that can be explained due to European migration, violence against Natives, and segregation of hte Africans.