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Archaic adaptive introgression in TBX15/WARS2

Fernando Racimo, David Gokhman, Matteo Fumagalli, Torben Hansen, Ida Moltke, Anders Albrechtsen, Liran Carmel, Emilia Huerta-Sánchez, Rasmus Nielsen
doi: https://doi.org/10.1101/033928
Fernando Racimo
1Department of Integrative Biology, University of California Berkeley, Berkeley, CA 94720, USA.
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David Gokhman
2Department of Genetics, The Alexander Silberman Institute of Life Sciences, Faculty of Science, The Hebrew University of Jerusalem, Edmond J. Safra Campus, Givat Ram, Jerusalem 91904, Israel.
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Matteo Fumagalli
3Department of Genetics, Evolution, and Environment, University College London, London WC1E 6BT, UK.
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Torben Hansen
4The Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark.
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Ida Moltke
5The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark.
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Anders Albrechtsen
5The Bioinformatics Centre, Department of Biology, University of Copenhagen, 2200 Copenhagen, Denmark.
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Liran Carmel
2Department of Genetics, The Alexander Silberman Institute of Life Sciences, Faculty of Science, The Hebrew University of Jerusalem, Edmond J. Safra Campus, Givat Ram, Jerusalem 91904, Israel.
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Emilia Huerta-Sánchez
6School of Natural Sciences, University of California Merced, Merced, CA 95343, USA.
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Rasmus Nielsen
1Department of Integrative Biology, University of California Berkeley, Berkeley, CA 94720, USA.
7Department of Statistics, University of California Berkeley, Berkeley, CA 94720, USA.
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  • For correspondence: rasmus_nielsen@berkeley.edu
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Abstract

A recent study conducted the first genome-wide scan for selection in Inuit from Greenland using SNP 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 introgressed from an archaic population most closely related to Denisovans. The region contains two genes, WARS2 and TBX15, and has previously been associated with 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 is associated with BMI-adjusted waist circumference. We also find that in this region both the Denisovan and individuals homozygous for the introgressed allele display differential DNA methylation.

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Posted December 08, 2015.
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Archaic adaptive introgression in TBX15/WARS2
Fernando Racimo, David Gokhman, Matteo Fumagalli, Torben Hansen, Ida Moltke, Anders Albrechtsen, Liran Carmel, Emilia Huerta-Sánchez, Rasmus Nielsen
bioRxiv 033928; doi: https://doi.org/10.1101/033928
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Archaic adaptive introgression in TBX15/WARS2
Fernando Racimo, David Gokhman, Matteo Fumagalli, Torben Hansen, Ida Moltke, Anders Albrechtsen, Liran Carmel, Emilia Huerta-Sánchez, Rasmus Nielsen
bioRxiv 033928; doi: https://doi.org/10.1101/033928

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