Evaluating the Impact of Sex-Biased Genetic Admixture in the Americas through the Analysis of Haplotype Data

Author:

Ongaro Linda,Molinaro Ludovica,Flores RodrigoORCID,Marnetto Davide,Capodiferro Marco R.,Alarcón-Riquelme Marta E.ORCID,Moreno-Estrada Andrés,Mabunda Nedio,Ventura MarioORCID,Tambets KristiinaORCID,Achilli AlessandroORCID,Capelli Cristian,Metspalu Mait,Pagani LucaORCID,Montinaro Francesco

Abstract

A general imbalance in the proportion of disembarked males and females in the Americas has been documented during the Trans-Atlantic Slave Trade and the Colonial Era and, although less prominent, more recently. This imbalance may have left a signature on the genomes of modern-day populations characterised by high levels of admixture. The analysis of the uniparental systems and the evaluation of continental proportion ratio of autosomal and X chromosomes revealed a general sex imbalance towards males for European and females for African and Indigenous American ancestries. However, the consistency and degree of this imbalance are variable, suggesting that other factors, such as cultural and social practices, may have played a role in shaping it. Moreover, very few investigations have evaluated the sex imbalance using haplotype data, containing more critical information than genotypes. Here, we analysed genome-wide data for more than 5000 admixed American individuals to assess the presence, direction and magnitude of sex-biased admixture in the Americas. For this purpose, we applied two haplotype-based approaches, ELAI and NNLS, and we compared them with a genotype-based method, ADMIXTURE. In doing so, besides a general agreement between methods, we unravelled that the post-colonial admixture dynamics show higher complexity than previously described.

Funder

European Regional Development Fund

Eesti Teadusagentuur

Horizon 2020

Ministero dell’Istruzione, dell’Università e della Ricerca

Dipartimenti di Eccellenza

Publisher

MDPI AG

Subject

Genetics(clinical),Genetics

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