Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes

Mutation rates along the genome are highly variable and influenced by several chromatin features. Here, we addressed how nucleosomes, the most pervasive chromatin structure in eukaryotes, affect the generation of mutations. We discovered that within nucleosomes, the somatic mutation rate across seve...

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Detalles Bibliográficos
Autores: Pich, Oriol, Muiños, Ferran, Sabarinathan, Radhakrishnan, Reyes Salazar, Iker, González Pérez, Abel, López Bigas, Núria
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2018
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/141757
Acceso en línea:https://hdl.handle.net/2445/141757
Access Level:acceso abierto
Palabra clave:Mutació (Biologia)
Reparació de l'ADN
Mutation (Biology)
DNA repair
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spelling Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around NucleosomesPich, OriolMuiños, FerranSabarinathan, RadhakrishnanReyes Salazar, IkerGonzález Pérez, AbelLópez Bigas, NúriaMutació (Biologia)Reparació de l'ADNMutation (Biology)DNA repairMutation rates along the genome are highly variable and influenced by several chromatin features. Here, we addressed how nucleosomes, the most pervasive chromatin structure in eukaryotes, affect the generation of mutations. We discovered that within nucleosomes, the somatic mutation rate across several tumor cohorts exhibits a strong 10 base pair (bp) periodicity. This periodic pattern tracks the alternation of the DNA minor groove facing toward and away from the histones. The strength and phase of the mutation rate periodicity are determined by the mutational processes active in tumors. We uncovered similar periodic patterns in the genetic variation among human and Arabidopsis populations, also detectable in their divergence from close species, indicating that the same principles underlie germline and somatic mutation rates. We propose that differential DNA damage and repair processes dependent on the minor groove orientation in nucleosome-bound DNA contribute to the 10-bp periodicity in AT/CG content in eukaryotic genomes.Elsevier2019201920182019info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersion50 p.application/pdfapplication/pdfhttps://hdl.handle.net/2445/141757Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésVersió postprint del document publicat a: http://dx.doi.org/10.1016/j.cell.2018.10.004Cell, 2018, vol. 175, num. 4, p. 1074-1087http://dx.doi.org/10.1016/j.cell.2018.10.004info:eu-repo/grantAgreement/EC/H2020/682398(c) Elseviercc by-nc-nd (c) Elsevier, 2018http://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1417572026-05-29T05:05:01Z
dc.title.none.fl_str_mv Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
title Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
spellingShingle Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
Pich, Oriol
Mutació (Biologia)
Reparació de l'ADN
Mutation (Biology)
DNA repair
title_short Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
title_full Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
title_fullStr Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
title_full_unstemmed Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
title_sort Somatic and Germline Mutation Periodicity Follow the Orientation of the DNA Minor Groove around Nucleosomes
dc.creator.none.fl_str_mv Pich, Oriol
Muiños, Ferran
Sabarinathan, Radhakrishnan
Reyes Salazar, Iker
González Pérez, Abel
López Bigas, Núria
author Pich, Oriol
author_facet Pich, Oriol
Muiños, Ferran
Sabarinathan, Radhakrishnan
Reyes Salazar, Iker
González Pérez, Abel
López Bigas, Núria
author_role author
author2 Muiños, Ferran
Sabarinathan, Radhakrishnan
Reyes Salazar, Iker
González Pérez, Abel
López Bigas, Núria
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Mutació (Biologia)
Reparació de l'ADN
Mutation (Biology)
DNA repair
topic Mutació (Biologia)
Reparació de l'ADN
Mutation (Biology)
DNA repair
description Mutation rates along the genome are highly variable and influenced by several chromatin features. Here, we addressed how nucleosomes, the most pervasive chromatin structure in eukaryotes, affect the generation of mutations. We discovered that within nucleosomes, the somatic mutation rate across several tumor cohorts exhibits a strong 10 base pair (bp) periodicity. This periodic pattern tracks the alternation of the DNA minor groove facing toward and away from the histones. The strength and phase of the mutation rate periodicity are determined by the mutational processes active in tumors. We uncovered similar periodic patterns in the genetic variation among human and Arabidopsis populations, also detectable in their divergence from close species, indicating that the same principles underlie germline and somatic mutation rates. We propose that differential DNA damage and repair processes dependent on the minor groove orientation in nucleosome-bound DNA contribute to the 10-bp periodicity in AT/CG content in eukaryotic genomes.
publishDate 2018
dc.date.none.fl_str_mv 2018
2019
2019
2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/141757
url https://hdl.handle.net/2445/141757
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: http://dx.doi.org/10.1016/j.cell.2018.10.004
Cell, 2018, vol. 175, num. 4, p. 1074-1087
http://dx.doi.org/10.1016/j.cell.2018.10.004
info:eu-repo/grantAgreement/EC/H2020/682398
dc.rights.none.fl_str_mv (c) Elsevier
cc by-nc-nd (c) Elsevier, 2018
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Elsevier
cc by-nc-nd (c) Elsevier, 2018
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 50 p.
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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