dc.creator | Carbonell, Jose | es |
dc.creator | Alloza, Eva | es |
dc.creator | Arce, P. | es |
dc.creator | Borrego, Salud | es |
dc.creator | Santoyo, Javier | es |
dc.creator | Ruiz Ferrer, Macarena | es |
dc.creator | Antiñolo Gil, Guillermo | es |
dc.creator | Dopazo, Joaquín | es |
dc.date.accessioned | 2021-04-16T11:11:30Z | |
dc.date.available | 2021-04-16T11:11:30Z | |
dc.date.issued | 2012-08-24 | |
dc.identifier.citation | Carbonell, J., Alloza, E., Arce, P., Borrego, S., Santoyo, J., Ruiz Ferrer, M.,...,Dopazo, J. (2012). A map of human microRNA variation uncovers unexpectedly high levels of variability. Genome Medicine, 4 (12), 62. | |
dc.identifier.issn | 1756-994X (electrónico) | es |
dc.identifier.uri | https://hdl.handle.net/11441/107238 | |
dc.description.abstract | Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During
the past few years, these regulatory elements have been shown to be involved in an increasing number and range
of diseases. Consequently, the compilation of a comprehensive map of natural variability in a healthy population
seems an obvious requirement for future research on miRNA-related pathologies.
Methods: Data on 14 populations from the 1000 Genomes Project were analyzed, along with new data extracted
from 60 exomes of healthy individuals from a population from southern Spain, sequenced in the context of the
Medical Genome Project, to derive an accurate map of miRNA variability.
Results: Despite the common belief that miRNAs are highly conserved elements, analysis of the sequences of the
1,152 individuals indicated that the observed level of variability is double what was expected. A total of 527
variants were found. Among these, 45 variants affected the recognition region of the corresponding miRNA and
were found in 43 different miRNAs, 26 of which are known to be involved in 57 diseases. Different parts of the
mature structure of the miRNA were affected to different degrees by variants, which suggests the existence of a
selective pressure related to the relative functional impact of the change. Moreover, 41 variants showed a
significant deviation from the Hardy-Weinberg equilibrium, which supports the existence of a selective process
against some alleles. The average number of variants per individual in miRNAs was 28.
Conclusions: Despite an expectation that miRNAs would be highly conserved genomic elements, our study
reports a level of variability comparable to that observed for coding genes. | es |
dc.description.sponsorship | Junta de Andalucía | es |
dc.description.sponsorship | Ministerio de Economía y Competitividad BIO2008-04212 BIO2011-27069 | es |
dc.description.sponsorship | Fondo de Investigación Sanitaria, PROMETEO/2010/001 de GVA-FEDER PI1001290 | es |
dc.description.sponsorship | Red Temática de Investigación Cooperativa en Cáncer (RTICC), Instituto de Salud Carlos III (ISCIII), Ministerio de Economía y Competitividad RD06/ 0020/1019 | es |
dc.description.sponsorship | Ministerio de Economía y Competitividad FI06/00027 | es |
dc.format | application/pdf | es |
dc.format.extent | 17 p. | es |
dc.language.iso | eng | es |
dc.publisher | BMC | es |
dc.relation.ispartof | Genome Medicine, 4 (12), 62. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | MicroRNA | es |
dc.subject | MiRNAs | es |
dc.subject | DNA | es |
dc.title | A map of human microRNA variation uncovers unexpectedly high levels of variability | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Cirugía | es |
dc.relation.projectID | BIO2008-04212 | es |
dc.relation.projectID | BIO2011-27069 | es |
dc.relation.projectID | PI1001290 | es |
dc.relation.projectID | RD06/ 0020/1019 | es |
dc.relation.projectID | FI06/00027 | es |
dc.identifier.doi | 10.1186/gm363 | es |
dc.journaltitle | Genome Medicine | es |
dc.publication.volumen | 4 | es |
dc.publication.issue | 12 | es |
dc.publication.initialPage | 62 | es |
dc.contributor.funder | Red Temática de Investigación Cooperativa en Cáncer (RTICC), Instituto de Salud Carlos III (ISCIII), Ministerio de Economía y Competitividad RD06/ 0020/1019 | es |