Archaic adaptive introgression in TBX15/WARS2
File(s)Mol Biol Evol-2016-Racimo-molbev-msw283.pdf (1.4 MB)
Published version
Author(s)
Type
Journal Article
Abstract
A recent study conducted the first genome-wide scan for selection in Inuit from Greenland using SNP chip data. Here, we report that selection in the region with the second most extreme signal of positive selection in Greenlandic Inuit favored a deeply divergent haplotype that is closely related to the sequence in the Denisovan genome, and was likely introgressed from an archaic population. The region contains two genes, WARS2 and TBX15, and has previously been associated with adipose tissue differentiation and body-fat distribution in humans. We show that the adaptively introgressed allele has been under selection in a much larger geographic region than just Greenland. Furthermore, it is associated with changes in expression of WARS2 and TBX15 in multiple tissues including the adrenal gland and subcutaneous adipose tissue, and with regional DNA methylation changes in TBX15.
Date Issued
2016-12-22
Date Acceptance
2016-11-30
Citation
Molecular Biology and Evolution, 2016, 34 (3), pp.509-524
ISSN
1537-1719
Publisher
Oxford University Press
Start Page
509
End Page
524
Journal / Book Title
Molecular Biology and Evolution
Volume
34
Issue
3
Copyright Statement
© The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
Sponsor
Human Frontier Science Program
Identifier
http://www.ncbi.nlm.nih.gov/pubmed/28007980
PII: msw283
Grant Number
LT000320/2014-L
Subjects
Denisova
Native Americans
adaptive introgression
admixture.
methylation
positive selection
Evolutionary Biology
0604 Genetics
0603 Evolutionary Biology
0601 Biochemistry And Cell Biology
Publication Status
Published
Coverage Spatial
United States