Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas.


Journal

Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958

Informations de publication

Date de publication:
01 11 2021
Historique:
received: 18 01 2021
revised: 21 06 2021
accepted: 23 06 2021
pubmed: 2 7 2021
medline: 31 3 2022
entrez: 1 7 2021
Statut: ppublish

Résumé

American populations are one of the most interesting examples of recently admixed groups, where ancestral components from three major continental human groups (Africans, Eurasians and Native Americans) have admixed within the last 15 generations. Recently, several genetic surveys focusing on thousands of individuals shed light on the geography, chronology and relevance of these events. However, even though gene flow could drive adaptive evolution, it is unclear whether and how natural selection acted on the resulting genetic variation in the Americas. In this study, we analysed the patterns of local ancestry of genomic fragments in genome-wide data for ~ 6000 admixed individuals from 10 American countries. In doing so, we identified regions characterized by a divergent ancestry profile (DAP), in which a significant over or under ancestral representation is evident. Our results highlighted a series of genomic regions with DAPs associated with immune system response and relevant medical traits, with the longest DAP region encompassing the human leukocyte antigen locus. Furthermore, we found that DAP regions are enriched in genes linked to cancer-related traits and autoimmune diseases. Then, analysing the biological impact of these regions, we showed that natural selection could have acted preferentially towards variants located in coding and non-coding transcripts and characterized by a high deleteriousness score. Taken together, our analyses suggest that shared patterns of post admixture adaptation occurred at a continental scale in the Americas, affecting more often functional and impactful genomic variants.

Identifiants

pubmed: 34196708
pii: 6312571
doi: 10.1093/hmg/ddab177
pmc: PMC8561420
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2123-2134

Informations de copyright

© The Author(s) 2021. Published by Oxford University Press.

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Auteurs

Linda Ongaro (L)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.

Mayukh Mondal (M)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.

Rodrigo Flores (R)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.

Davide Marnetto (D)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.

Ludovica Molinaro (L)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.

Marta E Alarcón-Riquelme (ME)

Department of Medical Genomics, GENYO. Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica, Av de la Ilustración 114, Parque Tecnológico de la Salud (PTS), Granada 18016, Spain.

Andrés Moreno-Estrada (A)

National Laboratory of Genomics for biodiversity (LANGEBIO), CINVESTAV, Irapuato, Guanajuato 36821, Mexico.

Nedio Mabunda (N)

Instituto Nacional de Saúde, Distrito de Marracuene, Estrada Nacional No. 1, Província de Maputo, Maputo 1120, Mozambique.

Mario Ventura (M)

Department of Biology-Genetics, University of Bari, Bari 70126, Italy.

Kristiina Tambets (K)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.

Garrett Hellenthal (G)

Department of Genetics, Evolution and Environment and UCL Genetics Institute, University College London, London WC1E 6BT, UK.

Cristian Capelli (C)

Department of Zoology, University of Oxford, 11a Mansfield Road, OX1 3SZ, Oxford, UK.
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/a, 43124, Parma, Italy.

Toomas Kivisild (T)

Department of Human Genetics, KU Leuven, Herestraat 49 - box 602, Leuven B-3000, Belgium.

Mait Metspalu (M)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.

Luca Pagani (L)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.
Department of Biology, University of Padua, Via U. Bassi 58/B, 35131, Padua, Italy.

Francesco Montinaro (F)

Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, Tartu 51010, Estonia.
Department of Biology-Genetics, University of Bari, Bari 70126, Italy.

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