{"id":77745,"date":"2018-03-09T23:23:17","date_gmt":"2018-03-09T23:23:17","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/obtencion-y-caracterizacion-de-mutantes-funcionales-del-gen-frataxin-homologue-fh-en-drosophila\/"},"modified":"2018-03-09T23:23:17","modified_gmt":"2018-03-09T23:23:17","slug":"obtencion-y-caracterizacion-de-mutantes-funcionales-del-gen-frataxin-homologue-fh-en-drosophila","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/obtencion-y-caracterizacion-de-mutantes-funcionales-del-gen-frataxin-homologue-fh-en-drosophila\/","title":{"rendered":"Obtenci\u00f3n y caracterizaci\u00f3n de mutantes funcionales del gen frataxin homologue (fh) en drosophila"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Navarro Langa Juan  Antonio <\/strong><\/h2>\n<p>La ataxia de friedreich es una enfermedad humana neurodegenerativa y de herencia autos\u00f3mica recesiva. Es la ataxia hereditaria m\u00e1s comun en la poblaci\u00f3n cauc\u00e1sica. La enfermedad es causada por la deficiencia de la prote\u00edna frataxina. Las claves sobre la funci\u00f3n de la frataxina provienen de los diferentes estudios llevados a cabo en varios organismos modelo. se han aislado los genes ort\u00f3logos en un n\u00famero elevado de organismos desde bacterias al rat\u00f3n y tambi\u00e9n en plantas. En nuestro laboratorio se ha aislado el gen de drosophila que codifica para la prote\u00edna frataxina, el gen fh. drosophila ha resultado ser un excelente modelo para el estudio de enfermedades humanas dado que son muchos los procesos biol\u00f3gicos conservados entre la mosca y el hombre, como por ejemplo, la formaci\u00f3n y degeneraci\u00f3n del sistema nervioso, la generaci\u00f3n y funci\u00f3n del coraz\u00f3n, el metabolismo mitocondrial, etc&#8230;En este trabajo se ha abordado el estudio de la funci\u00f3n del gen fh en d. Melanogaster empleando tres de las m\u00faltiples estrategias existentes en este organismo orientadas a la obtenci\u00f3n de fenotipos mutantes: la movilizaci\u00f3n de elementos transponibles p, el sistema arni y la sobreexpresi\u00f3n. Con los experimentos de mutag\u00e9nesis insercional no se obtuvieron los resultados esperados debido a que el gen fh es un gen peque\u00f1o localizado en una regi\u00f3n rica en genes y flanqueado por dos e incluso tres puntos calientes de inserci\u00f3n. se abord\u00f3 entonces una segunda aproximaci\u00f3n consistente en el uso del sistema uas-gal4 para el desarrollo de experimentos de sobreexpresi\u00f3n e interferencia. la interferencia o la sobreexpresi\u00f3n del gen fh en los tejidos afectados en los pacientes y en el desarrollo embrionario de drosophila, inducen la aparici\u00f3n de letalidad, de alguna alteraci\u00f3n fenot\u00edpica o de alguna modificaci\u00f3n del comportamiento. Los defectos encontrados se concentran por una parte en el snp, tanto en las neuronas y axones del componente<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Obtenci\u00f3n y caracterizaci\u00f3n de mutantes funcionales del gen frataxin homologue (fh) en drosophila<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Obtenci\u00f3n y caracterizaci\u00f3n de mutantes funcionales del gen frataxin homologue (fh) en drosophila <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Navarro Langa Juan  Antonio <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Universitat de val\u00e9ncia (estudi general)<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 14\/12\/2005<\/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>Mar\u00eda  Dolores Molto Ruiz<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rosa De frutos ill\u00e1n <\/li>\n<li>francesc Palau mart\u00ednez (vocal)<\/li>\n<li>Jos\u00e9 Antonio Botella mu\u00f1oz (vocal)<\/li>\n<li>victor Volpini bertr\u00e1n (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Navarro Langa Juan Antonio La ataxia de friedreich es una enfermedad humana neurodegenerativa y de herencia autos\u00f3mica [&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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