Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
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ABSTRACT:
SUBMITTER: Hsieh P
PROVIDER: S-EPMC6860971 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Publications
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
Hsieh PingHsun P Vollger Mitchell R MR Dang Vy V Porubsky David D Baker Carl C Cantsilieris Stuart S Hoekzema Kendra K Lewis Alexandra P AP Munson Katherine M KM Sorensen Melanie M Kronenberg Zev N ZN Murali Shwetha S Nelson Bradley J BJ Chiatante Giorgia G Maggiolini Flavia Angela Maria FAM Blanché Hélène H Underwood Jason G JG Antonacci Francesca F Deleuze Jean-François JF Eichler Evan E EE
Science (New York, N.Y.) 20191001 6463
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 reconstr ...[more]
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