{"id":99782,"date":"2018-03-11T10:21:00","date_gmt":"2018-03-11T10:21:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/mapeo-identificacion-y-estudios-funcionales-del-gen-asociado-a-la-hipoacusia\/"},"modified":"2018-03-11T10:21:00","modified_gmt":"2018-03-11T10:21:00","slug":"mapeo-identificacion-y-estudios-funcionales-del-gen-asociado-a-la-hipoacusia","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/mapeo-identificacion-y-estudios-funcionales-del-gen-asociado-a-la-hipoacusia\/","title":{"rendered":"Mapeo, identificaci\u00f3n y estudios funcionales del gen asociado a la hipoacusia"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Angeles Mencia Rodriguez <\/strong><\/h2>\n<p>Las sorderas no sindr\u00f3micas hereditarias (snsh) representan el d\u00e9ficit sensorial m\u00e1s frecuente y se caracterizan por presentar una alta heterogeneidad cl\u00ednica y gen\u00e9tica. hasta la fecha se han descrito m\u00e1s de 100 loci implicados en este trastorno y en aproximadamente la mitad de ellos, se han identificado los genes asociados que codifican una variedad de prote\u00ednas con una gran diversidad estructural y funcional. En el presente trabajo describimos el mapeo de un nuevo locus de snsh autos\u00f3mica dominante, dfna50, en la regi\u00f3n cromos\u00f3mica 7q32, y la identificaci\u00f3n de un rna con funci\u00f3n reguladora, un microrna (mirna) denominado mir-96 que se expresa en las c\u00e9lulas ciliadas del o\u00eddo interno, como el gen asociado a esta patolog\u00eda. El mir-96 es el primer mirna implicado en sordera, y lo que es m\u00e1s destacable, es el primero que se asocia a una patolog\u00eda monog\u00e9nica de herencia mendeliana. Las mutaciones identificadas modifican la secuencia correspondiente a la regi\u00f3n seed del mirna maduro, que es crucial para la especificidad de reconocimiento de sus mensajeros diana. Los ensayos funcionales llevados a cabo muestran que ambas mutaciones ejercen un fuerte impacto sobre la biog\u00e9nesis y la capacidad de silenciamiento del mir-96. Por tanto, postulamos que dichas mutaciones alteran el papel regulador que mir-96 desempe\u00f1a en el mantenimiento de los perfiles de expresi\u00f3n g\u00e9nica en las c\u00e9lulas ciliadas, necesarios para su normal funcionamiento.  hereditary non-syndromic hearing loss (hnshl) represents the most common sensory deficit in human characterized by high clinical and genetic heterogeneity. Up to now, more than 100 deafness-associated loci have been mapped, and in about half of them, the associated genes have been identified which encode a variety of proteins with a high structural and functional diversity. In the present work we describe the mapping of a novel autosomal dominant hnshl locus, dfna50, at chromosome region 7q32, and the identification of a regulatory rna, a microrna (mirna) named mir-96 that is expressed in the hair cells of the inner ear, as the gene associated with this pathology. Mir- 96 is the first mirna implicated in hearing impairment and, most important, this is the first mirna linked to a monogenic mendelian disorder. The identified mutations modify the sequence corresponding to the seed region in the mature form of mir-96, which is known to be crucial for the specificity of target recognition. Our functional analysis show the identified mutations have a strong impact on mir-96 biogenesis and result in a significant reduction of mrna targeting. Therefore, we propose that these mutations alter the regulatory role of mir-96 in maintaining gene expression profiles in hair cells required for their normal function.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Mapeo, identificaci\u00f3n y estudios funcionales del gen asociado a la hipoacusia<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Mapeo, identificaci\u00f3n y estudios funcionales del gen asociado a la hipoacusia <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Angeles Mencia Rodriguez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 16\/03\/2010<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Miguel Angel Moreno Pelayo<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rafael Garesse alarc\u00f3n <\/li>\n<li>Antonio Coloma jerez (vocal)<\/li>\n<li>pablo Lapunzina badia (vocal)<\/li>\n<li>Jos\u00e9 Mar\u00eda Mill\u00e1n salvador (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Angeles Mencia Rodriguez Las sorderas no sindr\u00f3micas hereditarias (snsh) representan el d\u00e9ficit sensorial m\u00e1s frecuente y se [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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