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The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

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The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

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dc.contributor.author Aller, Elena es_ES
dc.contributor.author Larrieu, Lise es_ES
dc.contributor.author Jaijo, Teresa es_ES
dc.contributor.author David Baux es_ES
dc.contributor.author Espinós-Armero, Carmen Ángeles es_ES
dc.contributor.author González-Candelas, Fernando es_ES
dc.contributor.author Nájera, Carmen es_ES
dc.contributor.author Palau, Francesc es_ES
dc.contributor.author Claustres, Mireille es_ES
dc.contributor.author Roux, Anne Françoise es_ES
dc.contributor.author Millán, José M. es_ES
dc.date.accessioned 2023-12-28T19:02:16Z
dc.date.available 2023-12-28T19:02:16Z
dc.date.issued 2010-07 es_ES
dc.identifier.uri http://hdl.handle.net/10251/201212
dc.description.abstract [EN] Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of an interactome that has an essential role in the development and function of inner ear hair cells and photoreceptors. The gene contains 72 exons spanning over a region of 800 kb. Although numerous mutations have been described, the c.2299delG mutation is the most prevalent in several populations. Its ancestral origin was previously suggested after the identification of a common core haplotype restricted to 250 kb in the 5' region that encodes the short usherin isoform. By extending the haplotype analysis over the 800 kb region of the USH2A gene with a total of 14 intragenic single nucleotide polymorphisms, we have been able to define 10 different c.2299delG haplotypes, showing high variability but preserving the previously described core haplotype. An exhaustive c.2299delG/control haplotype study suggests that the major source of variability in the USH2A gene is recombination. Furthermore, we have evidenced twice the amount of recombination hotspots located in the 500 kb region that covers the 3' end of the gene, explaining the higher variability observed in this region when compared with the 250 kb of the 5' region. Our data confirm the common ancestral origin of the c.2299delG mutation. es_ES
dc.description.sponsorship We are grateful to the participating patients and their relatives and to the FAARPEE for their help and co-operation. This work was supported by grants from the Fondo de Investigaciones Sanitarias (FIS07/0558) and from the Ministere de la Recherche 'PHRC National 2004' (Protocole 7802). es_ES
dc.language Inglés es_ES
dc.publisher Nature Publishing Group es_ES
dc.relation.ispartof European Journal of Human Genetics es_ES
dc.rights Reserva de todos los derechos es_ES
dc.subject USH2A es_ES
dc.subject C.2299delG es_ES
dc.subject Haplotype es_ES
dc.subject Dating es_ES
dc.subject.classification BIOLOGIA CELULAR es_ES
dc.title The USH2A c.2299delG mutation: dating its common origin in a Southern European population. es_ES
dc.type Artículo es_ES
dc.identifier.doi 10.1038/ejhg.2010.14 es_ES
dc.relation.projectID info:eu-repo/grantAgreement/ISCIII//FIS PI07%2F0558/ es_ES
dc.relation.projectID info:eu-repo/grantAgreement/MESR//7802/ es_ES
dc.rights.accessRights Abierto es_ES
dc.contributor.affiliation Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural es_ES
dc.description.bibliographicCitation Aller, E.; Larrieu, L.; Jaijo, T.; David Baux; Espinós-Armero, CÁ.; González-Candelas, F.; Nájera, C.... (2010). The USH2A c.2299delG mutation: dating its common origin in a Southern European population. European Journal of Human Genetics. 18(7):788-793. https://doi.org/10.1038/ejhg.2010.14 es_ES
dc.description.accrualMethod S es_ES
dc.relation.publisherversion https://doi.org/10.1038/ejhg.2010.14 es_ES
dc.description.upvformatpinicio 788 es_ES
dc.description.upvformatpfin 793 es_ES
dc.type.version info:eu-repo/semantics/publishedVersion es_ES
dc.description.volume 18 es_ES
dc.description.issue 7 es_ES
dc.identifier.eissn 1018-4813 es_ES
dc.identifier.pmid 20145675 es_ES
dc.identifier.pmcid PMC2987359 es_ES
dc.relation.pasarela S\505796 es_ES
dc.contributor.funder Instituto de Salud Carlos III es_ES
dc.contributor.funder Ministère de l'Enseignement Supérieur et de la Recherche, Francia es_ES
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