Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers

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Cuba is the largest island of the Greater Antilles and its most populous country. The post-Columbian history of the Caribbean has been marked by the encounter of people from different continents. Here, we present an admixture analysis of 1,019 individuals from all the provinces of Cuba, using autosomal, mtDNA and Y-chromosome markers. We also analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation (melanin index). The highest proportions of African ancestry were observed in the Southeastern provinces of Santiago de Cuba and Guantánamo, and the highest proportions of Native American ancestry were found in the Eastern provinces of Granma, Holguín and Las Tunas. Similar geographic patterns were observed in the analyses of the uniparental markers. Additionally, by comparing the autosomal and uniparental admixture proportions, we identified a clear sex-biased pattern in the process of gene flow, with a substantially higher European contribution from the paternal side than the maternal side, and conversely higher Native American and African contributions from the maternal side than the paternal side. Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 show a strong association with skin pigmentation in the sample.

Vyšlo v časopise: Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers. PLoS Genet 10(7): e32767. doi:10.1371/journal.pgen.1004488
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004488

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