Racimo, F;
Gokhman, D;
Fumagalli, M;
Ko, A;
Hansen, T;
Moltke, I;
Albrechtsen, A;
... Nielsen, R; + view all
(2017)
Archaic Adaptive Introgression in TBX15/WARS2.
Molecular Biology and Evolution
, 34
(3)
pp. 509-524.
10.1093/molbev/msw283.
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Abstract
A recent study conducted the first genome-wide scan for selection in Inuit from Greenland using single nucleotide polymorphism 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.
| Type: | Article |
|---|---|
| Title: | Archaic Adaptive Introgression in TBX15/WARS2 |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/molbev/msw283 |
| Publisher version: | https://doi.org/10.1093/molbev/msw283 |
| Language: | English |
| Additional information: | Copyright © The Author 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. |
| Keywords: | adaptive introgression, Denisova, positive selection, Native Americans, methylation, admixture |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1534390 |
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