Germline de novo mutation rates on exons versus introns in humans

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• dc.contributor.author Rodríguez Galindo, Miguel
• dc.contributor.author Casillas, Sònia
• dc.contributor.author Weghorn, Donate
• dc.contributor.author Barbadilla, Antonio
• dc.date.accessioned 2020-10-21T06:39:53Z
• dc.date.available 2020-10-21T06:39:53Z
• dc.date.issued 2020
• dc.description.abstract A main assumption of molecular population genetics is that genomic mutation rate does not depend on sequence function. Challenging this assumption, a recent study has found a reduction in the mutation rate in exons compared to introns in somatic cells, ascribed to an enhanced exonic mismatch repair system activity. If this reduction happens also in the germline, it can compromise studies of population genomics, including the detection of selection when using introns as proxies for neutrality. Here we compile and analyze published germline de novo mutation data to test if the exonic mutation rate is also reduced in germ cells. After controlling for sampling bias in datasets with diseased probands and extended nucleotide context dependency, we find no reduction in the mutation rate in exons compared to introns in the germline. Therefore, there is no evidence that enhanced exonic mismatch repair activity determines the mutation rate in germline cells.
• dc.format.mimetype application/pdf
• dc.identifier.citation Rodriguez-Galindo M, Casillas S, Weghorn D, Barbadilla A. Germline de novo mutation rates on exons versus introns in humans. Nat Commun. 2020; 11(1):3304. DOI: 10.1038/s41467-020-17162-z
• dc.identifier.doi http://dx.doi.org/10.1038/s41467-020-17162-z
• dc.identifier.issn 2041-1723
• dc.identifier.uri http://hdl.handle.net/10230/45537
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Nat Commun. 2020; 11(1):3304
• dc.rights © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Computational models
• dc.subject.keyword Genetic variation
• dc.subject.keyword Molecular evolution
• dc.subject.keyword Mutagenesis
• dc.title Germline de novo mutation rates on exons versus introns in humans
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion