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

Bioinformatik og RNA Biologi

50 Citationer (Scopus)

83 Downloads (Pure)

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.

Originalsprog	Engelsk
Artikelnummer	msw283
Tidsskrift	Molecular Biology and Evolution
Vol/bind	34
Udgave nummer	3
Sider (fra-til)	509-524
Antal sider	16
ISSN	0737-4038
DOI	https://doi.org/10.1093/molbev/msw283
Status	Udgivet - 2017

Adgang til dokumentet

10.1093/molbev/msw283Licens: CC BY-NC

Racimo_2017_Archaic_adaptiveForlagets udgivne version, 1,02 MBLicens: CC BY-NC

Citationsformater

@article{026fdef10f794d859a3badf228acc3c6,

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",

note = "{\textcopyright} The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.",

year = "2017",

doi = "10.1093/molbev/msw283",

language = "English",

volume = "34",

pages = "509--524",

journal = "Molecular Biology and Evolution",

issn = "0737-4038",

publisher = "Oxford University Press",

number = "3",

}

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

Adgang til dokumentet

Fingeraftryk

Citationsformater