Dynamics of DNA methylation in recent human and great ape evolution

DNA methylation is an epigenetic modification involved in regulatory processes such as cell differentiation during development, X-chromosome inactivation, genomic imprinting and susceptibility to complex disease. However, the dynamics of DNA methylation changes between humans and their closest relat...

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Autores: Hernando-Herraez, Irene, Prado-Martínez, Javier, Garg, Paras, Fernández-Callejo, Marcos, Heyn, Holger, Hvilsom, Christina, Navarro i Cuartiellas, Arcadi, 1969-, Esteller, Manel, 1968-, Sharp, Andrew J., Marquès i Bonet, Tomàs, 1975-
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:España
Recursos:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/130122
Acesso em linha:https://hdl.handle.net/2445/130122
Access Level:acceso abierto
Palavra-chave:Metilació
Genoma humà
Hibridació
Evolució humana
ADN
Simis
Methylation
Human genome
Hybridization
Human evolution
DNA
Apes
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spelling Dynamics of DNA methylation in recent human and great ape evolutionHernando-Herraez, IrenePrado-Martínez, JavierGarg, ParasFernández-Callejo, MarcosHeyn, HolgerHvilsom, ChristinaNavarro i Cuartiellas, Arcadi, 1969-Esteller, Manel, 1968-Sharp, Andrew J.Marquès i Bonet, Tomàs, 1975-MetilacióGenoma humàHibridacióEvolució humanaADNSimisMethylationHuman genomeHybridizationHuman evolutionDNAApesDNA methylation is an epigenetic modification involved in regulatory processes such as cell differentiation during development, X-chromosome inactivation, genomic imprinting and susceptibility to complex disease. However, the dynamics of DNA methylation changes between humans and their closest relatives are still poorly understood. We performed a comparative analysis of CpG methylation patterns between 9 humans and 23 primate samples including all species of great apes (chimpanzee, bonobo, gorilla and orangutan) using Illumina Methylation 450 bead arrays. Our analysis identified ,800 genes with significantly altered methylation patterns among the great apes, including ,170 genes with a methylation pattern unique to human. Some of these are known to be involved in developmental and neurological features, suggesting that epigenetic changes have been frequent during recent human and primate evolution. We identified a significant positive relationship between the rate of coding variation and alterations of methylation at the promoter level, indicative of co-occurrence between evolution of protein sequence and gene regulation. In contrast, and supporting the idea that many phenotypic differences between humans and great apes are not due to amino acid differences, our analysis also identified 184 genes that are perfectly conserved at protein level between human and chimpanzee, yet show significant epigenetic differences between these two species. We conclude that epigenetic alterations are an important force during primate evolution and have been under-explored in evolutionary comparative genomics.Public Library of Science (PLoS)2013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/130122Articles publicats en revistes (Ciències Fisiològiques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.1371/journal.pgen.1003763PLoS Genetics, 2013, vol. 9, num. 9, p. e1003763https://doi.org/10.1371/journal.pgen.1003763info:eu-repo/grantAgreement/EC/FP7/260372cc-by (c) Hernando-Herraez, Irene et al., 2013http://creativecommons.org/licenses/by/3.0/esinfo:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1301222026-05-27T06:46:51Z
dc.title.none.fl_str_mv Dynamics of DNA methylation in recent human and great ape evolution
title Dynamics of DNA methylation in recent human and great ape evolution
spellingShingle Dynamics of DNA methylation in recent human and great ape evolution
Hernando-Herraez, Irene
Metilació
Genoma humà
Hibridació
Evolució humana
ADN
Simis
Methylation
Human genome
Hybridization
Human evolution
DNA
Apes
title_short Dynamics of DNA methylation in recent human and great ape evolution
title_full Dynamics of DNA methylation in recent human and great ape evolution
title_fullStr Dynamics of DNA methylation in recent human and great ape evolution
title_full_unstemmed Dynamics of DNA methylation in recent human and great ape evolution
title_sort Dynamics of DNA methylation in recent human and great ape evolution
dc.creator.none.fl_str_mv Hernando-Herraez, Irene
Prado-Martínez, Javier
Garg, Paras
Fernández-Callejo, Marcos
Heyn, Holger
Hvilsom, Christina
Navarro i Cuartiellas, Arcadi, 1969-
Esteller, Manel, 1968-
Sharp, Andrew J.
Marquès i Bonet, Tomàs, 1975-
author Hernando-Herraez, Irene
author_facet Hernando-Herraez, Irene
Prado-Martínez, Javier
Garg, Paras
Fernández-Callejo, Marcos
Heyn, Holger
Hvilsom, Christina
Navarro i Cuartiellas, Arcadi, 1969-
Esteller, Manel, 1968-
Sharp, Andrew J.
Marquès i Bonet, Tomàs, 1975-
author_role author
author2 Prado-Martínez, Javier
Garg, Paras
Fernández-Callejo, Marcos
Heyn, Holger
Hvilsom, Christina
Navarro i Cuartiellas, Arcadi, 1969-
Esteller, Manel, 1968-
Sharp, Andrew J.
Marquès i Bonet, Tomàs, 1975-
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Metilació
Genoma humà
Hibridació
Evolució humana
ADN
Simis
Methylation
Human genome
Hybridization
Human evolution
DNA
Apes
topic Metilació
Genoma humà
Hibridació
Evolució humana
ADN
Simis
Methylation
Human genome
Hybridization
Human evolution
DNA
Apes
description DNA methylation is an epigenetic modification involved in regulatory processes such as cell differentiation during development, X-chromosome inactivation, genomic imprinting and susceptibility to complex disease. However, the dynamics of DNA methylation changes between humans and their closest relatives are still poorly understood. We performed a comparative analysis of CpG methylation patterns between 9 humans and 23 primate samples including all species of great apes (chimpanzee, bonobo, gorilla and orangutan) using Illumina Methylation 450 bead arrays. Our analysis identified ,800 genes with significantly altered methylation patterns among the great apes, including ,170 genes with a methylation pattern unique to human. Some of these are known to be involved in developmental and neurological features, suggesting that epigenetic changes have been frequent during recent human and primate evolution. We identified a significant positive relationship between the rate of coding variation and alterations of methylation at the promoter level, indicative of co-occurrence between evolution of protein sequence and gene regulation. In contrast, and supporting the idea that many phenotypic differences between humans and great apes are not due to amino acid differences, our analysis also identified 184 genes that are perfectly conserved at protein level between human and chimpanzee, yet show significant epigenetic differences between these two species. We conclude that epigenetic alterations are an important force during primate evolution and have been under-explored in evolutionary comparative genomics.
publishDate 2013
dc.date.none.fl_str_mv 2013
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/130122
url https://hdl.handle.net/2445/130122
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1371/journal.pgen.1003763
PLoS Genetics, 2013, vol. 9, num. 9, p. e1003763
https://doi.org/10.1371/journal.pgen.1003763
info:eu-repo/grantAgreement/EC/FP7/260372
dc.rights.none.fl_str_mv cc-by (c) Hernando-Herraez, Irene et al., 2013
http://creativecommons.org/licenses/by/3.0/es
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Hernando-Herraez, Irene et al., 2013
http://creativecommons.org/licenses/by/3.0/es
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Public Library of Science (PLoS)
publisher.none.fl_str_mv Public Library of Science (PLoS)
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Fisiològiques)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.228081

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