dc.contributor.author | Naville, Magali | en_US |
dc.contributor.author | Ishibashi, Minaka | en_US |
dc.contributor.author | Ferg, Marco | en_US |
dc.contributor.author | Bengani, Hemant | en_US |
dc.contributor.author | Rinkwitz, Silke | en_US |
dc.contributor.author | Krecsmarik, Monika | en_US |
dc.contributor.author | Hawkins, Thomas A. | en_US |
dc.contributor.author | Wilson, Stephen W. | en_US |
dc.contributor.author | Manning, Elizabeth | en_US |
dc.contributor.author | Chilamakuri, Chandra Sekhar Reddy | en_US |
dc.contributor.author | Wilson, David I. | en_US |
dc.contributor.author | Louis, Alexandra | en_US |
dc.contributor.author | Raymond, F. Lucy | en_US |
dc.contributor.author | Rastegar, Sepand | en_US |
dc.contributor.author | Strähle, Uwe | en_US |
dc.contributor.author | Lenhard, Boris | en_US |
dc.contributor.author | Bally-Cuif, Laure | en_US |
dc.contributor.author | van Heyningen, Veronica | en_US |
dc.contributor.author | Fitzpatrick, David R. | en_US |
dc.contributor.author | Becker, Thomas S. | en_US |
dc.contributor.author | Crollius, Hugues Roest | en_US |
dc.date.accessioned | 2016-04-01T07:38:28Z | |
dc.date.available | 2016-04-01T07:38:28Z | |
dc.date.issued | 2015-04-24 | |
dc.Published | Nature Communications 2015, 6:6904 | eng |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://hdl.handle.net/1956/11803 | |
dc.description.abstract | Enhancers can regulate the transcription of genes over long genomic distances. This is thought to lead to selection against genomic rearrangements within such regions that may disrupt this functional linkage. Here we test this concept experimentally using the human X chromosome. We describe a scoring method to identify evolutionary maintenance of linkage between conserved noncoding elements and neighbouring genes. Chromatin marks associated with enhancer function are strongly correlated with this linkage score. We test >1,000 putative enhancers by transgenesis assays in zebrafish to ascertain the identity of the target gene. The majority of active enhancers drive a transgenic expression in a pattern consistent with the known expression of a linked gene. These results show that evolutionary maintenance of linkage is a reliable predictor of an enhancer’s function, and provide new information to discover the genetic basis of diseases caused by the mis-regulation of gene expression. | en_US |
dc.language.iso | eng | eng |
dc.publisher | Nature Publishing Group (NPG) | eng |
dc.rights | Attribution CC BY 4.0 | eng |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0 | eng |
dc.subject | Biological sciences | eng |
dc.subject | Evolution | eng |
dc.subject | Genetics | eng |
dc.title | Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome | en_US |
dc.type | Peer reviewed | |
dc.type | Journal article | |
dc.date.updated | 2015-12-30T17:04:14Z | |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Copyright 2015 Rights Managed by Nature Publishing Group | |
dc.identifier.doi | https://doi.org/10.1038/ncomms7904 | |
dc.identifier.cristin | 1252506 | |
dc.subject.nsi | VDP::Medisinske fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714 | |
dc.subject.nsi | VDP::Midical sciences: 700::Basic medical, dental and veterinary sciences: 710::Medical genetics: 714 | |
dc.subject.nsi | VDP::Medisinske Fag: 700 | en_US |