{"id":53510,"date":"2018-03-09T22:41:12","date_gmt":"2018-03-09T22:41:12","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/mapeo-identificacion-y-estudios-de-expresion-del-gen-responsable-de-la-sordera-dfna44\/"},"modified":"2018-03-09T22:41:12","modified_gmt":"2018-03-09T22:41:12","slug":"mapeo-identificacion-y-estudios-de-expresion-del-gen-responsable-de-la-sordera-dfna44","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/mapeo-identificacion-y-estudios-de-expresion-del-gen-responsable-de-la-sordera-dfna44\/","title":{"rendered":"Mapeo, identificaci\u00f3n y estudios de expresi\u00f3n del gen responsable de la sordera dfna44"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Silvia Modamio Hoybjor <\/strong><\/h2>\n<p>La sordera neurosensorial no sindr\u00f3mica (snns), en la que la p\u00e9rdida auditiva es el \u00fanico s\u00edntoma cl\u00ednico, es un d\u00e9ficit sensorial muy frecuente que se caracteriza por su gran heterogeneidad gen\u00e9tica. Hasta la fecha se han descrito 95 loci implicados en este trastorno, de los cuales se han identificado 38 genes responsables.  el repertorio de productos que \u00e9stos codifican es muy variado, y abarca desde prote\u00ednas involucradas en el desarrollo temprano del o\u00eddo interno hasta prote\u00ednas necesarias para el mantenimiento de estructuras muy especializadas dentro de la c\u00f3clea adulta.  en este trabajo, describimos el mapeo de un nuevo locus de snns de herencia autos\u00f3mica dominante, dfna44, en la regi\u00f3n cromos\u00f3mica 3q28-29, y la identificaci\u00f3n de la mutaci\u00f3n causante de esta patolog\u00eda en el gen c3orf6. Este gen codifica ymer, una prote\u00edna de funci\u00f3n desconocida recientemente descubierta como un efector fosforilable en tirosina involucrado en la red de se\u00f1alizaci\u00f3n  del egf. Con la finalidad de comprender el papel que esta prote\u00edna juega en el sistema auditivo, hemos investigado su patr\u00f3n de expresi\u00f3n en o\u00eddo interno de rat\u00f3n. Como resultado, hemos detectado la presencia de cuatro isoformas distintas del gen, cuya expresi\u00f3n no se restringe al o\u00eddo interno. Hemos concluido tambi\u00e9n que ymer es una prote\u00edna soluble y citos\u00f3lica. Asimismo, los experimentos de inmunohistoqu\u00edmica realizados sobre secciones de o\u00eddo interno de rat\u00f3n de distintos estadios pre- y postnatales muestran una expresi\u00f3n din\u00e1mica de ymer que coincide con los eventos de diferenciaci\u00f3n de las distintas estructuras durante el desarrollo del o\u00eddo interno, y que queda restringida a la estr\u00eda vascular y al epitelio sensorial vestibular en el o\u00eddo interno adulto. Esto sugiere que ymer podr\u00eda jugar un papel importante en el desarrollo del o\u00eddo interno, as\u00ed como en el mantenimiento de la funci\u00f3n auditiva y vestibular en adulto.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Mapeo, identificaci\u00f3n y estudios de expresi\u00f3n del gen responsable de la sordera dfna44<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Mapeo, identificaci\u00f3n y estudios de expresi\u00f3n del gen responsable de la sordera dfna44 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Silvia Modamio Hoybjor <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/06\/2006<\/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>Felipe Moreno Herrero<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jose Fernandez piqueras <\/li>\n<li>Santiago Rodriguez de cordoba (vocal)<\/li>\n<li>isabel Varela nieto (vocal)<\/li>\n<li>francesc Palau mart\u00ednez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Silvia Modamio Hoybjor La sordera neurosensorial no sindr\u00f3mica (snns), en la que la p\u00e9rdida auditiva es el [&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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