Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes-Reference-Cited by-同舟云学术

Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes

Published:2019-10-18 Issue:6463 Volume:366 Page:
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Hsieh PingHsun¹^ORCID,Vollger Mitchell R.¹^ORCID,Dang Vy¹^ORCID,Porubsky David¹,Baker Carl¹,Cantsilieris Stuart¹,Hoekzema Kendra¹,Lewis Alexandra P.¹^ORCID,Munson Katherine M.¹^ORCID,Sorensen Melanie¹^ORCID,Kronenberg Zev N.¹,Murali Shwetha¹²,Nelson Bradley J.¹,Chiatante Giorgia³,Maggiolini Flavia Angela Maria³^ORCID,Blanché Hélène⁴^ORCID,Underwood Jason G.¹⁵,Antonacci Francesca³,Deleuze Jean-François⁴,Eichler Evan E.¹²^ORCID

Affiliation:

1. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.

2. Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.

3. Dipartimento di Biologia, Università degli Studi di Bari “Aldo Moro,” Bari, Italy.

4. Fondation Jean Dausset–Centre d’Etude du Polymorphisme Humain, Paris, France.

5. Pacific Biosciences (PacBio) of California, Inc., Menlo Park, CA, USA.

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

Funder

National Institutes of Health

Howard Hughes Medical Institute

National Health and Medical Research Council

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference79 articles.

1. Convergent adaptation of human lactase persistence in Africa and Europe

2. Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude

3. Greenlandic Inuit show genetic signatures of diet and climate adaptation