1. Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
- Author
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Katherine M. Munson, Evan E. Eichler, PingHsun Hsieh, Flavia Angela Maria Maggiolini, Giorgia Chiatante, Alexandra P. Lewis, Francesca Antonacci, Vy Dang, Carl Baker, Stuart Cantsilieris, David Porubsky, Bradley J. Nelson, Shwetha C. Murali, Melanie Sorensen, Jean-François Deleuze, Kendra Hoekzema, Jason G. Underwood, Mitchell R. Vollger, Hélène Blanché, and Zev N. Kronenberg
- Subjects
DNA Copy Number Variations ,Introgression ,Biology ,Genetic Introgression ,Genome ,Article ,Evolution, Molecular ,mental disorders ,Chromosome Duplication ,Genetic variation ,Animals ,Humans ,Copy-number variation ,Selection, Genetic ,Neanderthals ,Whole genome sequencing ,Polymorphism, Genetic ,Multidisciplinary ,Models, Genetic ,Whole Genome Sequencing ,Genome, Human ,Haplotype ,Hominidae ,Haplotypes ,Evolutionary biology ,Human genome ,Melanesia ,Adaptation ,Chromosomes, Human, Pair 16 ,Chromosomes, Human, Pair 8 - Abstract
Adaptive archaic hominin genes As they migrated out of Africa and into Europe and Asia, anatomically modern humans interbred with archaic hominins, such as Neanderthals and Denisovans. The result of this genetic introgression on the recipient populations has been of considerable interest, especially in cases of selection for specific archaic genetic variants. Hsieh et al. characterized adaptive structural variants and copy number variants that are likely targets of positive selection in Melanesians. Focusing on population-specific regions of the genome that carry duplicated genes and show an excess of amino acid replacements provides evidence for one of the mechanisms by which genetic novelty can arise and result in differentiation between human genomes. Science , this issue p. eaax2083
- Published
- 2019