{"id":71359,"date":"2018-03-09T23:15:59","date_gmt":"2018-03-09T23:15:59","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/cerca-i-identificacio-del-gen-de-retinitis-pigmentaria-autosomica-recessiva-del-locus-rp26\/"},"modified":"2018-03-09T23:15:59","modified_gmt":"2018-03-09T23:15:59","slug":"cerca-i-identificacio-del-gen-de-retinitis-pigmentaria-autosomica-recessiva-del-locus-rp26","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/cerca-i-identificacio-del-gen-de-retinitis-pigmentaria-autosomica-recessiva-del-locus-rp26\/","title":{"rendered":"Cerca i identificaci\u00f3 del gen de retinitis pigment\u00e1ria autos\u00f3mica recessiva del locus rp26"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miquel Tuson Segarra <\/strong><\/h2>\n<p>La retinosis pigmentaria es la degeneraci\u00f3n retinal hereditaria m\u00e1s prevalente y una de las causas principales de ceguera en humanos. Desde un punto de vista cl\u00ednico se manifiesta como ceguera nocturna, progresa con la reducci\u00f3n del campo visual y en estadios avanzados conduce a la ceguera completa. se caracteriza por la muerte apopt\u00f3tica de las c\u00e9lulas fotoreceptoras de la retina como consecuencia de la alteraci\u00f3n de uno de los 32 genes que, hasta la fecha, han sido identificados como causales de esta enfermedad.  el objetivo principal de este trabajo de tesis doctoral ha sido la b\u00fasqueda de un nuevo gen de retinosis pigmentaria autos\u00f3mica recesiva en el locus rp26. Este locus hab\u00eda sido definido previamente por nuestro grupo en el brazo largo del cromosoma 2, mediante un an\u00e1lisis de ligamiento. En el presente trabajo de tesis, se expone la caracterizaci\u00f3n funcional de un nuevo gen del locus rp26, el gen ormdl1, identificado como presunto candidato, y la descripci\u00f3n de la familia g\u00e9nica a la que pertenece: una nueva familia de genes que codifican prote\u00ednas transmembrana del ret\u00edculo endoplasm\u00e1tico, muy conservadas y presentes exclusivamente en ecuariotas.  mediante el an\u00e1lisis funcional realizado con la generaci\u00f3n de cepas knockout de los genes orm1 y orm2 de levadura, se propone una implicaci\u00f3n de estas prote\u00ednas en la respuesta del ret\u00edculo endoplasm\u00e1tico a prote\u00ednas mal plegadas.  en la segunda parte del trabajo, se exponen los resultados de la b\u00fasqueda del gen responsable de rp del locus rp26. Gracias a una aproximaci\u00f3n que incluy\u00f3 la determinaci\u00f3n precisa de los l\u00edmites del locus, el an\u00e1lisis de genes candidatos y un extenso mapaje de homocigosidad, realizado a lo largo de un  intervalo de consagraci\u00f3n de 12 mb, pudimos definir una regi\u00f3n candidata que conten\u00eda 9 genes descritos. Estos 9 genes fueron descartados por secuenciaci\u00f3n como responsables de la enfermedad. La b\u00fasqueda in silico de nuevo<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Cerca i identificaci\u00f3 del gen de retinitis pigment\u00e1ria autos\u00f3mica recessiva del locus rp26<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Cerca i identificaci\u00f3 del gen de retinitis pigment\u00e1ria autos\u00f3mica recessiva del locus rp26 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miquel Tuson Segarra <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/11\/2004<\/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>Roser Gonzalez Duarte<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: angel Mar\u00eda Carracedo alvarez <\/li>\n<li>julio Escribano Martinez (vocal)<\/li>\n<li>m\u00f3nica Bay\u00e9s colomer (vocal)<\/li>\n<li>gemma Fabrias domingo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miquel Tuson Segarra La retinosis pigmentaria es la degeneraci\u00f3n retinal hereditaria m\u00e1s prevalente y una de las [&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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