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dc.contributor.authorDi, C.
dc.contributor.authorMoreno, J.M.
dc.contributor.authorSalazar-Tortosa, D.F.
dc.contributor.authorElise Lauterbur, M.
dc.contributor.authorEnard, D.
dc.date.accessioned2021-11-29T20:25:03Z
dc.date.available2021-11-29T20:25:03Z
dc.date.issued2021
dc.identifier.citationDi, C., Moreno, J. M., Salazar-Tortosa, D. F., Elise Lauterbur, M., & Enard, D. (2021). Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants. ELife.
dc.identifier.issn2050-084X
dc.identifier.doi10.7554/eLife.69026
dc.identifier.urihttp://hdl.handle.net/10150/662406
dc.description.abstractAdvances in genome sequencing have improved our understanding of the genetic basis of human diseases, and thousands of human genes have been associated with different diseases. Recent genomic adaptation at disease genes has not been well characterized. Here, we compare the rate of strong recent adaptation in the form of selective sweeps between mendelian, non-infectious disease genes and non-disease genes across distinct human populations from the 1000 Genomes Project. We find that mendelian disease genes have experienced far less selective sweeps compared to non-disease genes especially in Africa. Investigating further the possible causes of the sweep deficit at disease genes, we find that this deficit is very strong at disease genes with both low recombination rates and with high numbers of associated disease variants, but is almost non-existent at disease genes with higher recombination rates or lower numbers of associated disease variants. Because segregating recessive deleterious variants have the ability to interfere with adaptive ones, these observations strongly suggest that adaptation has been slowed down by the presence of interfering recessive deleterious variants at disease genes. These results suggest that disease genes suffer from a transient inability to adapt as fast as the rest of the genome. © 2021, eLife Sciences Publications Ltd. All rights reserved.
dc.language.isoen
dc.publishereLife Sciences Publications Ltd
dc.rightsCopyright © Di et al. This article is distributed under the terms of the Creative Commons Attribution License.
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleDecreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants
dc.typeArticle
dc.typetext
dc.contributor.departmentUniversity of Arizona
dc.identifier.journaleLife
dc.description.noteOpen access journal
dc.description.collectioninformationThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.
dc.eprint.versionFinal published version
dc.source.journaltitleeLife
refterms.dateFOA2021-11-29T20:25:03Z


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Copyright © Di et al. This article is distributed under the terms of the Creative Commons Attribution License.
Except where otherwise noted, this item's license is described as Copyright © Di et al. This article is distributed under the terms of the Creative Commons Attribution License.