Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
Animals
Chromosome Duplication
Chromosomes, Human, Pair 16
/ genetics
Chromosomes, Human, Pair 8
/ genetics
DNA Copy Number Variations
Evolution, Molecular
Genetic Introgression
Genome, Human
Haplotypes
Hominidae
/ genetics
Humans
Melanesia
Models, Genetic
Neanderthals
/ genetics
Polymorphism, Genetic
Selection, Genetic
Whole Genome Sequencing
Journal
Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511
Informations de publication
Date de publication:
18 10 2019
18 10 2019
Historique:
received:
03
03
2019
revised:
05
07
2019
accepted:
12
09
2019
entrez:
19
10
2019
pubmed:
19
10
2019
medline:
9
4
2020
Statut:
ppublish
Résumé
Copy number variants (CNVs) are subject to stronger selective pressure than single-nucleotide variants, but their roles in archaic introgression and adaptation have not been systematically investigated. We show that stratified CNVs are significantly associated with signatures of positive selection in Melanesians and provide evidence for adaptive introgression of large CNVs at chromosomes 16p11.2 and 8p21.3 from Denisovans and Neanderthals, respectively. Using long-read sequence data, we reconstruct the structure and complex evolutionary history of these polymorphisms and show that both encode positively selected genes absent from most human populations. Our results collectively suggest that large CNVs originating in archaic hominins and introgressed into modern humans have played an important role in local population adaptation and represent an insufficiently studied source of large-scale genetic variation.
Identifiants
pubmed: 31624180
pii: 366/6463/eaax2083
doi: 10.1126/science.aax2083
pmc: PMC6860971
mid: NIHMS1057227
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Informations de copyright
Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
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