Archaic Adaptive Introgression in TBX15/WARS2.
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 t...
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ftcdlib:oai:escholarship.org/ark:/13030/qt4nk8v86h 2023-05-15T16:26:52+02:00 Archaic Adaptive Introgression in TBX15/WARS2. Racimo, Fernando Gokhman, David Fumagalli, Matteo Ko, Amy Hansen, Torben Moltke, Ida Albrechtsen, Anders Carmel, Liran Huerta-Sánchez, Emilia Nielsen, Rasmus 509 - 524 2017-03-01 application/pdf https://escholarship.org/uc/item/4nk8v86h unknown eScholarship, University of California qt4nk8v86h https://escholarship.org/uc/item/4nk8v86h public Molecular biology and evolution, vol 34, iss 3 Adipose Tissue Animals Humans T-Box Domain Proteins Sequence Analysis DNA Adaptation Biological DNA Methylation Haplotypes Polymorphism Single Nucleotide Alleles Models Genetic Inuits Greenland Selection Neanderthals Ancient Denisova Native Americans adaptive introgression admixture methylation positive selection Human Genome Genetics 1.1 Normal biological development and functioning Generic health relevance Evolutionary Biology Biochemistry and Cell Biology article 2017 ftcdlib 2021-11-22T18:18:04Z 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. Article in Journal/Newspaper Greenland greenlandic inuit inuits University of California: eScholarship Denisova ENVELOPE(158.482,158.482,53.037,53.037) Greenland |
institution |
Open Polar |
collection |
University of California: eScholarship |
op_collection_id |
ftcdlib |
language |
unknown |
topic |
Adipose Tissue Animals Humans T-Box Domain Proteins Sequence Analysis DNA Adaptation Biological DNA Methylation Haplotypes Polymorphism Single Nucleotide Alleles Models Genetic Inuits Greenland Selection Neanderthals Ancient Denisova Native Americans adaptive introgression admixture methylation positive selection Human Genome Genetics 1.1 Normal biological development and functioning Generic health relevance Evolutionary Biology Biochemistry and Cell Biology |
spellingShingle |
Adipose Tissue Animals Humans T-Box Domain Proteins Sequence Analysis DNA Adaptation Biological DNA Methylation Haplotypes Polymorphism Single Nucleotide Alleles Models Genetic Inuits Greenland Selection Neanderthals Ancient Denisova Native Americans adaptive introgression admixture methylation positive selection Human Genome Genetics 1.1 Normal biological development and functioning Generic health relevance Evolutionary Biology Biochemistry and Cell Biology Racimo, Fernando Gokhman, David Fumagalli, Matteo Ko, Amy Hansen, Torben Moltke, Ida Albrechtsen, Anders Carmel, Liran Huerta-Sánchez, Emilia Nielsen, Rasmus Archaic Adaptive Introgression in TBX15/WARS2. |
topic_facet |
Adipose Tissue Animals Humans T-Box Domain Proteins Sequence Analysis DNA Adaptation Biological DNA Methylation Haplotypes Polymorphism Single Nucleotide Alleles Models Genetic Inuits Greenland Selection Neanderthals Ancient Denisova Native Americans adaptive introgression admixture methylation positive selection Human Genome Genetics 1.1 Normal biological development and functioning Generic health relevance Evolutionary Biology Biochemistry and Cell Biology |
description |
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. |
format |
Article in Journal/Newspaper |
author |
Racimo, Fernando Gokhman, David Fumagalli, Matteo Ko, Amy Hansen, Torben Moltke, Ida Albrechtsen, Anders Carmel, Liran Huerta-Sánchez, Emilia Nielsen, Rasmus |
author_facet |
Racimo, Fernando Gokhman, David Fumagalli, Matteo Ko, Amy Hansen, Torben Moltke, Ida Albrechtsen, Anders Carmel, Liran Huerta-Sánchez, Emilia Nielsen, Rasmus |
author_sort |
Racimo, Fernando |
title |
Archaic Adaptive Introgression in TBX15/WARS2. |
title_short |
Archaic Adaptive Introgression in TBX15/WARS2. |
title_full |
Archaic Adaptive Introgression in TBX15/WARS2. |
title_fullStr |
Archaic Adaptive Introgression in TBX15/WARS2. |
title_full_unstemmed |
Archaic Adaptive Introgression in TBX15/WARS2. |
title_sort |
archaic adaptive introgression in tbx15/wars2. |
publisher |
eScholarship, University of California |
publishDate |
2017 |
url |
https://escholarship.org/uc/item/4nk8v86h |
op_coverage |
509 - 524 |
long_lat |
ENVELOPE(158.482,158.482,53.037,53.037) |
geographic |
Denisova Greenland |
geographic_facet |
Denisova Greenland |
genre |
Greenland greenlandic inuit inuits |
genre_facet |
Greenland greenlandic inuit inuits |
op_source |
Molecular biology and evolution, vol 34, iss 3 |
op_relation |
qt4nk8v86h https://escholarship.org/uc/item/4nk8v86h |
op_rights |
public |
_version_ |
1766015874082275328 |