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Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript

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Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript

dc.contributor.author	Puig, Marta
dc.contributor.author	Castellano, David
dc.contributor.author	Pantano, Lorena
dc.contributor.author	Giner Delgado, Carla
dc.contributor.author	Izquierdo, David
dc.contributor.author	Gayà Vidal, Magdalena
dc.contributor.author	Lucas Lledó, José Ignacio
dc.contributor.author	Esko, Tõnu
dc.contributor.author	Terao, Chikashi
dc.contributor.author	Matsuda, Fumihiko
dc.contributor.author	Cáceres, Mario
dc.date.accessioned	2016-07-05T10:45:21Z
dc.date.available	2016-07-05T10:45:21Z
dc.date.issued	2015
dc.identifier.citation	Puig, Marta Castellano, David Pantano, Lorena Giner Delgado, Carla Izquierdo, David Gayà Vidal, Magdalena Lucas Lledó, José Ignacio Esko, Tõnu Terao, Chikashi Matsuda, Fumihiko Cáceres, Mario 2015 Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript Plos Genetics 11 10 e1005495
dc.identifier.uri	http://hdl.handle.net/10550/54395
dc.description.abstract	Since the discovery of chromosomal inversions almost 100 years ago, how they are maintained in natural populations has been a highly debated issue. One of the hypotheses is that inversion breakpoints could affect genes and modify gene expression levels, although evidence of this came only from laboratory mutants. In humans, a few inversions have been shown to associate with expression differences, but in all cases the molecular causes have remained elusive. Here, we have carried out a complete characterization of a new human polymorphic inversion and determined that it is specific to East Asian populations. In addition, we demonstrate that it disrupts the ZNF257 gene and, through the translocation of the first exon and regulatory sequences, creates a previously nonexistent fusion transcript, which together are associated to expression changes in several other genes. Finally, we investigate the potential evolutionary and phenotypic consequences of the inversion, and suggest that it is probably deleterious. This is therefore the first example of a natural polymorphic inversion that has position effects and creates a new chimeric gene, contributing to answer an old question in evolutionary biology.
dc.language.iso	eng
dc.relation.ispartof	Plos Genetics, 2015, vol. 11, num. 10, p. e1005495
dc.subject	Genoma humà
dc.subject	Genètica de poblacions
dc.title	Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript
dc.type	journal article	es_ES
dc.date.updated	2016-07-05T10:45:21Z
dc.identifier.doi	10.1371/journal.pgen.1005495
dc.identifier.idgrec	113213
dc.rights.accessRights	open access	es_ES