English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/218738
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

Title

Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations

AuthorsHeredia-Genestar, José María; Marqués-Bonet, Tomàs ; Juan, David; Navarro, Arcadi
Issue Date19-May-2020
PublisherSpringer Nature
CitationNature Communications 11: 2512 (2020)
AbstractMutations do not accumulate uniformly across the genome. Human germline and tumor mutation density correlate poorly, and each is associated with different genomic features. Here, we use non-human great ape (NHGA) germlines to determine human germline- and tumor-specific deviations from an ancestral-like great ape genome-wide mutational landscape. Strikingly, we find that the distribution of mutation densities in tumors presents a stronger correlation with NHGA than with human germlines. This effect is driven by human-specific differences in the distribution of mutations at non-CpG sites. We propose that ancestral human demographic events, together with the human-specific mutation slowdown, disrupted the human genome-wide distribution of mutation densities. Tumors partially recover this distribution by accumulating preneoplastic-like somatic mutations. Our results highlight the potential utility of using NHGA population data, rather than human controls, to establish the expected mutational background of healthy somatic cells.
Publisher version (URL)https://doi.org/10.1038/s41467-020-16296-4
URIhttp://hdl.handle.net/10261/218738
DOI10.1038/s41467-020-16296-4
E-ISSN2041-1723
Appears in Collections:(IBE) Artículos
Files in This Item:
File Description SizeFormat 
s41467-020-16296-4.pdf2,29 MBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.