TY - JOUR
T1 - Archaic adaptive introgression in TBX15/WARS2
AU - Racimo, Fernando
AU - Gokhman, David
AU - Fumagalli, Matteo
AU - Ko, Amy
AU - Hansen, Torben
AU - Moltke, Ida
AU - Albrechtsen, Anders
AU - Carmel, Liran
AU - Huerta-Sanchez, Emilia
AU - Nielsen, Rasmus
N1 - Publisher Copyright:
© The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Adaptive introgression
KW - Admixture
KW - Denisova
KW - Methylation
KW - Native Americans
KW - Positive selection
UR - http://www.scopus.com/inward/record.url?scp=85016647946&partnerID=8YFLogxK
U2 - 10.1093/molbev/msw283
DO - 10.1093/molbev/msw283
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C2 - 28007980
AN - SCOPUS:85016647946
SN - 0737-4038
VL - 34
SP - 509
EP - 524
JO - Molecular Biology and Evolution
JF - Molecular Biology and Evolution
IS - 3
ER -