Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios

Genome-wide association studies have identified thousands of loci associated with common diseases and traits. However, a large fraction of heritability remains unexplained. Epigenetic modifications, such as the observed in DNA methylation have been proposed as a mechanism of intergenerational inheri...

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Autores: Galvan Femenia, Ivan, Díez Villanueva, Anna, Martín, Berta, Moratalla Navarro, Ferran, Morón-Duran, Francisco D, Obón Santacana, Mireia, Carreras, Anna, Cid, Rafael de, Peinado Morales, Miguel Á. (Miguel Ángel), Moreno Aguado, Víctor
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
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:2445/209345
Acceso en línea:https://hdl.handle.net/2445/209345
Access Level:acceso abierto
Palabra clave:Epigènesi
ADN
Genoma humà
Epigenesis
DNA
Human genome
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spelling Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in triosGalvan Femenia, IvanDíez Villanueva, AnnaMartín, BertaMoratalla Navarro, FerranMorón-Duran, Francisco DObón Santacana, MireiaCarreras, AnnaCid, Rafael dePeinado Morales, Miguel Á. (Miguel Ángel)Moreno Aguado, VíctorEpigènesiADNGenoma humàEpigenesisDNAHuman genomeGenome-wide association studies have identified thousands of loci associated with common diseases and traits. However, a large fraction of heritability remains unexplained. Epigenetic modifications, such as the observed in DNA methylation have been proposed as a mechanism of intergenerational inheritance. To investigate the potential contribution of DNA methylation to the missing heritability, we analysed the methylomes of four healthy trios (two parents and one offspring) using whole genome bisulphite sequencing. Of the 1.5 million CpGs (19%) with over 20% variability between parents in at least one family and compatible with a Mendelian inheritance pattern, only 3488 CpGs (0.2%) lacked correlation with any SNP in the genome, marking them as potential sites for intergenerational epigenetic inheritance. These markers were distributed genome-wide, with some preference to be located in promoters. They displayed a bimodal distribution, being either fully methylated or unmethylated, and were often found at the boundaries of genomic regions with high/low GC content. This analysis provides a starting point for future investigations into the missing heritability of simple and complex traits.Nature Publishing Group2024202420232024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion12 p.application/pdfhttps://hdl.handle.net/2445/209345Articles publicats en revistes (Ciències Clíniques)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1038/s41598-023-48517-3Scientific Reports, 2023, vol. 13, num.1https://doi.org/10.1038/s41598-023-48517-3cc-by (c) Díez-Villanueva, A. et al., 2023http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2093452026-05-29T05:05:01Z
dc.title.none.fl_str_mv Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
title Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
spellingShingle Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
Galvan Femenia, Ivan
Epigènesi
ADN
Genoma humà
Epigenesis
DNA
Human genome
title_short Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
title_full Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
title_fullStr Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
title_full_unstemmed Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
title_sort Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios
dc.creator.none.fl_str_mv Galvan Femenia, Ivan
Díez Villanueva, Anna
Martín, Berta
Moratalla Navarro, Ferran
Morón-Duran, Francisco D
Obón Santacana, Mireia
Carreras, Anna
Cid, Rafael de
Peinado Morales, Miguel Á. (Miguel Ángel)
Moreno Aguado, Víctor
author Galvan Femenia, Ivan
author_facet Galvan Femenia, Ivan
Díez Villanueva, Anna
Martín, Berta
Moratalla Navarro, Ferran
Morón-Duran, Francisco D
Obón Santacana, Mireia
Carreras, Anna
Cid, Rafael de
Peinado Morales, Miguel Á. (Miguel Ángel)
Moreno Aguado, Víctor
author_role author
author2 Díez Villanueva, Anna
Martín, Berta
Moratalla Navarro, Ferran
Morón-Duran, Francisco D
Obón Santacana, Mireia
Carreras, Anna
Cid, Rafael de
Peinado Morales, Miguel Á. (Miguel Ángel)
Moreno Aguado, Víctor
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Epigènesi
ADN
Genoma humà
Epigenesis
DNA
Human genome
topic Epigènesi
ADN
Genoma humà
Epigenesis
DNA
Human genome
description Genome-wide association studies have identified thousands of loci associated with common diseases and traits. However, a large fraction of heritability remains unexplained. Epigenetic modifications, such as the observed in DNA methylation have been proposed as a mechanism of intergenerational inheritance. To investigate the potential contribution of DNA methylation to the missing heritability, we analysed the methylomes of four healthy trios (two parents and one offspring) using whole genome bisulphite sequencing. Of the 1.5 million CpGs (19%) with over 20% variability between parents in at least one family and compatible with a Mendelian inheritance pattern, only 3488 CpGs (0.2%) lacked correlation with any SNP in the genome, marking them as potential sites for intergenerational epigenetic inheritance. These markers were distributed genome-wide, with some preference to be located in promoters. They displayed a bimodal distribution, being either fully methylated or unmethylated, and were often found at the boundaries of genomic regions with high/low GC content. This analysis provides a starting point for future investigations into the missing heritability of simple and complex traits.
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
2024
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/2445/209345
url https://hdl.handle.net/2445/209345
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/10.1038/s41598-023-48517-3
Scientific Reports, 2023, vol. 13, num.1
https://doi.org/10.1038/s41598-023-48517-3
dc.rights.none.fl_str_mv cc-by (c) Díez-Villanueva, A. et al., 2023
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Díez-Villanueva, A. et al., 2023
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 12 p.
application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv Articles publicats en revistes (Ciències Clíniques)
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 15,812429

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