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http://hdl.handle.net/2445/171626
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DC Field | Value | Language |
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dc.contributor.author | Supek, Fran | - |
dc.contributor.author | Lehner, Ben | - |
dc.date.accessioned | 2020-11-02T08:40:00Z | - |
dc.date.available | 2020-11-02T08:40:00Z | - |
dc.date.issued | 2019-07-08 | - |
dc.identifier.uri | http://hdl.handle.net/2445/171626 | - |
dc.description.abstract | Cancer genome sequencing has revealed that somatic mutation rates vary substantially across the human genome and at scales from megabase-sized domains to individual nucleotides. Here we review recent work that has both revealed the major mutation biases that operate across the genome and the molecular mechanisms that cause them. The default mutation rate landscape in mammalian genomes results in active genes having low mutation rates because of a combination of factors that increase DNA repair: early DNA replication, transcription, active chromatin modifications and accessible chromatin. Therefore, either an increase in the global mutation rate or a redistribution of mutations from inactive to active DNA can increase the rate at which consequential mutations are acquired in active genes. Several environmental carcinogens and intrinsic mechanisms operating in tumor cells likely cause cancer by this second mechanism: by specifically increasing the mutation rate in active regions of the genome. | ca |
dc.format.extent | 9 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | ca |
dc.publisher | Elsevier B. V. | ca |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1016/j.dnarep.2019.102647 | - |
dc.relation.ispartof | DNA Repair, 2019, vol. 81 | - |
dc.rights | cc-by-nc-nd (c) Elsevier, B. V., 2019 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona)) | - |
dc.subject.classification | Tumors | cat |
dc.subject.classification | Genòmica | cat |
dc.subject.classification | ADN | cat |
dc.subject.other | Tumors | eng |
dc.subject.other | Genomics | eng |
dc.subject.other | DNA | eng |
dc.title | Scales and mechanisms of somatic mutation rate variation across the human genome | ca |
dc.type | info:eu-repo/semantics/article | ca |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/757700/EU//HYPER-INSIGHT | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | ca |
dc.identifier.pmid | 31307927 | - |
Appears in Collections: | Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona)) |
Files in This Item:
File | Description | Size | Format | |
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DNA Repair .pdf | 675.29 kB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License