Show simple item record

dc.contributor.authorGómez Martín, Cristina
dc.contributor.authorAparicio Puerta, Ernesto
dc.contributor.authorMedina, J. M.
dc.contributor.authorBarturen, Guillermo
dc.contributor.authorOliver Jiménez, José L.
dc.contributor.authorHackenberg, Michael
dc.date.accessioned2021-06-08T06:31:55Z
dc.date.available2021-06-08T06:31:55Z
dc.date.issued2020-11-12
dc.identifier.citationC. Gómez-Martín, E. Aparicio-Puerta, J.M. Medina, Guillermo Barturen, J.L. Oliver, M. Hackenberg, geno5mC: A Database to Explore the Association between Genetic Variation (SNPs) and CpG Methylation in the Human Genome, Journal of Molecular Biology, Volume 433, Issue 11, 2021, 166709, ISSN 0022-2836, [https://doi.org/10.1016/j.jmb.2020.11.008]es_ES
dc.identifier.urihttp://hdl.handle.net/10481/69036
dc.descriptionThis work was supported by Spanish Government [AGL2017-88702-C2-2-R] to M.H. and JLO; Instituto de Salud Carlos III [IFI16/00041] to E.A.es_ES
dc.description.abstractGenetic variation, gene expression and DNA methylation influence each other in a complex way. To study the impact of sequence variation and DNA methylation on gene expression, we generated geno(5)mC, a database that contains statistically significant SNP-CpG associations that are biologically classified either through co-localization with known regulatory regions (promoters and enhancers), or through known correlations with the expression levels of nearby genes. The SNP rs727563 can be used to illustrate the usefulness of this approach. This SNP has been associated with inflammatory bowel disease through GWAS, but it is not located near any gene related to this phenotype. However, geno5mC reveals that rs727563 is associated with the methylation state of several CpGs located in promoter regions of genes reported to be involved in inflammatory processes. This case exemplifies how geno5mC can be used to infer relevant and previously unknown interactions between described disease-associated SNPs and their functional targets.es_ES
dc.description.sponsorshipSpanish Government European Commission AGL2017-88702-C2-2-Res_ES
dc.description.sponsorshipInstituto de Salud Carlos III European Commission IFI16/00041es_ES
dc.language.isoenges_ES
dc.publisherElsevieres_ES
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.subjectSNPses_ES
dc.subjectDNA methylationes_ES
dc.subjectGene regulationes_ES
dc.titlegeno5mC: A Database to Explore the Association between Genetic Variation (SNPs) and CpG Methylation in the Human Genomees_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES
dc.identifier.doi10.1016/j.jmb.2020.11.008
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones_ES


Files in this item

[PDF]

This item appears in the following Collection(s)

Show simple item record

Atribución-NoComercial-SinDerivadas 3.0 España
Except where otherwise noted, this item's license is described as Atribución-NoComercial-SinDerivadas 3.0 España