Archaic adaptive introgression in TBX15/WARS2

Fernando Racimo; David Gokhman; Matteo Fumagalli; Amy Ko; Torben Hansen; Ida Moltke; Anders Albrechtsen; Liran Carmel; Emilia Huerta-Sánchez; Rasmus Nielsen

doi:10.1093/molbev/msw283

Archaic adaptive introgression in TBX15/WARS2

Fernando Racimo, David Gokhman, Matteo Fumagalli, Amy Ko, Torben Hansen, Ida Moltke, Anders Albrechtsen, Liran Carmel, Emilia Huerta-Sánchez, Rasmus Nielsen

Computational and RNA Biology

50 Citations (Scopus)

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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.

Original language	English
Article number	msw283
Journal	Molecular Biology and Evolution
Volume	34
Issue number	3
Pages (from-to)	509-524
Number of pages	16
ISSN	0737-4038
DOIs	https://doi.org/10.1093/molbev/msw283
Publication status	Published - 2017

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title = "Archaic adaptive introgression in TBX15/WARS2",

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.",

author = "Fernando Racimo and David Gokhman and Matteo Fumagalli and Amy Ko and Torben Hansen and Ida Moltke and Anders Albrechtsen and Liran Carmel and Emilia Huerta-S{\'a}nchez and Rasmus Nielsen",

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year = "2017",

doi = "10.1093/molbev/msw283",

language = "English",

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pages = "509--524",

journal = "Molecular Biology and Evolution",

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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-Sánchez, Emilia

AU - Nielsen, Rasmus

N1 - © The Author(s) 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.

U2 - 10.1093/molbev/msw283

DO - 10.1093/molbev/msw283

M3 - Journal article

C2 - 28007980

SN - 0737-4038

VL - 34

SP - 509

EP - 524

JO - Molecular Biology and Evolution

JF - Molecular Biology and Evolution

IS - 3

M1 - msw283

ER -

Archaic adaptive introgression in TBX15/WARS2

Abstract

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