Identifying Recent Adaptations in Large-Scale Genomic Data
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Author(s)
Andersen, Kristian G.
Tabrizi, Shervin
Winnicki, Sarah
Yen, Angela
Park, Daniel J.
Griesemer, Dustin
Karlsson, Elinor K.
Wong, Sunny H.
Cabili, Moran N.
Adegbola, Richard A.
Date Issued
February 2013
Journal
Cell
Publisher
Elsevier
Citation
Grossman, Sharon R., Kristian G. Andersen, Ilya Shlyakhter, Shervin Tabrizi, Sarah Winnicki, Angela Yen, Daniel J. Park, et al. “Identifying Recent Adaptations in Large-Scale Genomic Data.” Cell 152, no. 4 (February 2013): 703–713. Copyright © 2013 Elsevier Inc.
Version
Final published version
Abstract
Although several hundred regions of the human genome harbor signals of positive natural selection, few of the relevant adaptive traits and variants have been elucidated. Using full-genome sequence variation from the 1000 Genomes (1000G) Project and the composite of multiple signals (CMS) test, we investigated 412 candidate signals and leveraged functional annotation, protein structure modeling, epigenetics, and association studies to identify and extensively annotate candidate causal variants. The resulting catalog provides a tractable list for experimental follow-up; it includes 35 high-scoring nonsynonymous variants, 59 variants associated with expression levels of a nearby coding gene or lincRNA, and numerous variants associated with susceptibility to infectious disease and other phenotypes. We experimentally characterized one candidate nonsynonymous variant in Toll-like receptor 5 (TLR5) and show that it leads to altered NF-κB signaling in response to bacterial flagellin.
MIT Department
Whitaker College of Health Sciences and Technology
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Massachusetts Institute of Technology. Department of Biology
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
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Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1016/j.cell.2013.01.035
