RT Journal Article
T1 Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas
A1 Ongaro, Linda
A1 Mondal, Mayukh
A1 Flores, Rodrigo
A1 Marnetto, Davide
A1 Molinaro, Ludovica
A1 Alarcon-Riquelme, Marta E.
A1 Moreno-Estrada, Andres
A1 Mabunda, Nedio
A1 Ventura, Mario
A1 Tambets, Kristiina
A1 Hellenthal, Garrett
A1 Capelli, Cristian
A1 Kivisild, Toomas
A1 Metspalu, Mait
A1 Pagani, Luca
A1 Montinaro, Francesco
K1 African-americans
K1 Positive selection
K1 Wide detection
K1 Ancestry
K1 Variants
K1 Patterns
K1 Disease
AB 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 similar to 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.
PB Oxford univ press
SN 0964-6906
YR 2021
FD 2021-07-01
LK https://hdl.handle.net/10668/28386
UL https://hdl.handle.net/10668/28386
LA en
DS RISalud
RD Apr 15, 2025