TY - JOUR
T1 - Demographic history and selection at HLA loci in Native Americans
AU - Single, Richard M.
AU - Meyer, Diogo
AU - Nunes, Kelly
AU - Francisco, Rodrigo Santos
AU - Hünemeier, Tábita
AU - Maiers, Martin
AU - Hurley, Carolyn K.
AU - Bedoya, Gabriel
AU - Gallo, Carla
AU - Hurtado, Ana Magdalena
AU - Llop, Elena
AU - Petzl-Erler, Maria Luiza
AU - Poletti, Giovanni
AU - Rothhammer, Francisco
AU - Tsuneto, Luiza
AU - Klitz, William
AU - Ruiz-Linares, Andrés
N1 - Publisher Copyright:
© 2020 Single et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
PY - 2020/11
Y1 - 2020/11
N2 - The American continent was the last to be occupied by modern humans, and native populations bear the marks of recent expansions, bottlenecks, natural selection, and population substructure. Here we investigate how this demographic history has shaped genetic variation at the strongly selected HLA loci. In order to disentangle the relative contributions of selection and demography process, we assembled a dataset with genome-wide microsatellites and HLA-A, -B, -C, and -DRB1 typing data for a set of 424 Native American individuals. We find that demographic history explains a sizeable fraction of HLA variation, both within and among populations. A striking feature of HLA variation in the Americas is the existence of alleles which are present in the continent but either absent or very rare elsewhere in the world. We show that this feature is consistent with demographic history (i.e., the combination of changes in population size associated with bottlenecks and subsequent population expansions). However, signatures of selection at HLA loci are still visible, with significant evidence selection at deeper timescales for most loci and populations, as well as population differentiation at HLA loci exceeding that seen at neutral markers.
AB - The American continent was the last to be occupied by modern humans, and native populations bear the marks of recent expansions, bottlenecks, natural selection, and population substructure. Here we investigate how this demographic history has shaped genetic variation at the strongly selected HLA loci. In order to disentangle the relative contributions of selection and demography process, we assembled a dataset with genome-wide microsatellites and HLA-A, -B, -C, and -DRB1 typing data for a set of 424 Native American individuals. We find that demographic history explains a sizeable fraction of HLA variation, both within and among populations. A striking feature of HLA variation in the Americas is the existence of alleles which are present in the continent but either absent or very rare elsewhere in the world. We show that this feature is consistent with demographic history (i.e., the combination of changes in population size associated with bottlenecks and subsequent population expansions). However, signatures of selection at HLA loci are still visible, with significant evidence selection at deeper timescales for most loci and populations, as well as population differentiation at HLA loci exceeding that seen at neutral markers.
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U2 - 10.1371/journal.pone.0241282
DO - 10.1371/journal.pone.0241282
M3 - Article
C2 - 33147239
AN - SCOPUS:85095677645
SN - 1932-6203
VL - 15
JO - PloS one
JF - PloS one
IS - 11 November
M1 - e0241282
ER -