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 2023-10-01T03:56:18+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 Human Genome Genetics Underpinning research 1.1 Normal biological development and functioning Generic health relevance Adaptation Biological Adipose Tissue Alleles Animals DNA Methylation DNA Ancient Greenland Haplotypes Humans Inuit Models Genetic Neanderthals Polymorphism Single Nucleotide Selection Sequence Analysis T-Box Domain Proteins adaptive introgression Denisova positive selection Native Americans methylation admixture Biochemistry and Cell Biology Evolutionary Biology article 2017 ftcdlib 2023-09-04T18:04:26Z 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 University of California: eScholarship Greenland Denisova ENVELOPE(158.482,158.482,53.037,53.037) |
institution |
Open Polar |
collection |
University of California: eScholarship |
op_collection_id |
ftcdlib |
language |
unknown |
topic |
Human Genome Genetics Underpinning research 1.1 Normal biological development and functioning Generic health relevance Adaptation Biological Adipose Tissue Alleles Animals DNA Methylation DNA Ancient Greenland Haplotypes Humans Inuit Models Genetic Neanderthals Polymorphism Single Nucleotide Selection Sequence Analysis T-Box Domain Proteins adaptive introgression Denisova positive selection Native Americans methylation admixture Biochemistry and Cell Biology Evolutionary Biology |
spellingShingle |
Human Genome Genetics Underpinning research 1.1 Normal biological development and functioning Generic health relevance Adaptation Biological Adipose Tissue Alleles Animals DNA Methylation DNA Ancient Greenland Haplotypes Humans Inuit Models Genetic Neanderthals Polymorphism Single Nucleotide Selection Sequence Analysis T-Box Domain Proteins adaptive introgression Denisova positive selection Native Americans methylation admixture Biochemistry and Cell Biology Evolutionary 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 |
Human Genome Genetics Underpinning research 1.1 Normal biological development and functioning Generic health relevance Adaptation Biological Adipose Tissue Alleles Animals DNA Methylation DNA Ancient Greenland Haplotypes Humans Inuit Models Genetic Neanderthals Polymorphism Single Nucleotide Selection Sequence Analysis T-Box Domain Proteins adaptive introgression Denisova positive selection Native Americans methylation admixture Biochemistry and Cell Biology Evolutionary 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 |
Greenland Denisova |
geographic_facet |
Greenland Denisova |
genre |
Greenland greenlandic inuit |
genre_facet |
Greenland greenlandic inuit |
op_source |
Molecular Biology and Evolution, vol 34, iss 3 |
op_relation |
qt4nk8v86h https://escholarship.org/uc/item/4nk8v86h |
op_rights |
public |
_version_ |
1778525703598243840 |