Global diversity, population stratification, and selection of human copy-number variation

2015

Sudmant, Peter H

Mallick, Swapan

Jorde, Lynn B

Posukh, Olga L

Sahakyan, Hovhannes

Watkins, W Scott

Yepiskoposyan, Levon

Abdullah, M Syafiq

Bravi, Claudio M

Capelli, Cristian

Hervig, Tor

Wee, Joseph T S

Nelson, Bradley J

Tyler-Smith, Chris

van Driem, George

Romero, Irene Gallego

Jha, Aashish R

Karachanak-Yankova, Sena

Toncheva, Draga

Comas, David

Henn, Brenna

Kivisild, Toomas

Ruiz-Linares, Andres

Hormozdiari, Fereydoun

Sajantila, Antti

Metspalu, Ene

Parik, Juri

Villems, Richard

Starikovskaya, Elena B

Ayodo, George

Beall, Cynthia M

Di Rienzo, Anna

Hammer, Michael F

Khusainova, Rita

Krumm, Niklas

Khusnutdinova, Elza

Klitz, William

Winkler, Cheryl

Labuda, Damian

Metspalu, Mait

Tishkoff, Sarah A

Dryomov, Stanislav

Sukernik, Rem

Patterson, Nick

Reich, David

Huddleston, John

Eichler, Evan E

Coe, Bradley P

Baker, Carl

Nordenfelt, Susanne

Bamshad, Michael

Journal Article

en

Publication

American Association for the Advancement of Science (AAAS)

United States of America

10.1126/science.aab3761

une:20800

In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.

link

Science, 349(6253), p. 1-9

1095-9203

0036-8075

1

9