{"id":58571,"date":"2018-03-09T22:46:23","date_gmt":"2018-03-09T22:46:23","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-genetico-de-los-paralogos-y-caracterizacion-funcional-de-lgi1\/"},"modified":"2018-03-09T22:46:23","modified_gmt":"2018-03-09T22:46:23","slug":"analisis-genetico-de-los-paralogos-y-caracterizacion-funcional-de-lgi1","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica-de-poblaciones\/analisis-genetico-de-los-paralogos-y-caracterizacion-funcional-de-lgi1\/","title":{"rendered":"An\u00e1lisis gen\u00e9tico de los par\u00e1logos y caracterizaci\u00f3n funcional de lgi1"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ana Ayerdi Izquierdo <\/strong><\/h2>\n<p>En 1995 se describi\u00f3 en nature genetics una forma familiar de epilepsia de herencia autos\u00f3mica dominante [ottman, 1995]. Se trataba de una forma de epilepsia parcial, aunque con cierta frecuencia las crisis observadas tambi\u00e9n se generalizaban, con un origen localizado en la parte lateral del l\u00f3bulo temporal. Cl\u00ednicamente, la caracter\u00edstica m\u00e1s destacada de esta forma de epilepsia era la aparici\u00f3n de auras auditivas que sol\u00edan preceder las crisis epil\u00e9pticas. El an\u00e1lisis gen\u00e9tico de dicha forma familiar permiti\u00f3 en 2002 a nuestro laboratorio [morante-redolat, gorostidi-pagola, 2002], a la vez que otro [kalachikov, 2002] identificar el gen cuyas mutaciones causaban este s\u00edndrome epil\u00e9ptico. El gen identificado, lgl1, presenta una expresi\u00f3n mayoritaria en el cerebro y pertenece a una nueva subfamilia de prote\u00ednas que podr\u00edan estar implicadas en la aparici\u00f3n de s\u00edndromes epil\u00e9pticos. Al resto de prote\u00ednas se les denomin\u00f3 lgl2, lgl3 y lgl4.     al comienzo de esta tesis se sab\u00eda muy poco acerca de la naturaleza de este gen, y nada sobre la localizaci\u00f3n subcelular o funci\u00f3n de los genes par\u00e1logos. Por tanto decidimos por una parte, llevar a cabo una caracterizaci\u00f3n inicial acerca de la naturaleza de los par\u00e1logos de lgl1 (an\u00e1lisis in silicio, clonaci\u00f3n y posterior estudio de secreci\u00f3n y an\u00e1lisis de modificaciones  postraduccionales de las prote\u00ednas lgl2, lgl3 y lgl4) y un an\u00e1lisis gen\u00e9tico en estos 3 nuevos genes en familias que presentaban un fenotipo cl\u00ednico compatible con adlte pero no presentaban ni ligamiento a 10q24 ni mutaciones en lgl1. Y por otra parte, decidimos caracterizar funcionalmente lgl1 con el objetivo \u00faltimo de determinar el mecanismo por el cual mutaciones en lgl1 causan este s\u00edndrome epil\u00e9ptico.     las prote\u00ednas de la familia lgl son secretadas pro neuronas y est\u00e1n glicosiladas. Mutaciones en la secuencia de las mismas, hacen que se queden retenidas en el interior celular, de manera que la secreci\u00f3n es u<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis gen\u00e9tico de los par\u00e1logos y caracterizaci\u00f3n funcional de lgi1<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis gen\u00e9tico de los par\u00e1logos y caracterizaci\u00f3n funcional de lgi1 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ana Ayerdi Izquierdo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 21\/05\/2007<\/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>Jordi Perez Tur<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 manuel Garcia verdugo <\/li>\n<li>Alberto Marina (vocal)<\/li>\n<li>lola Ganfornina (vocal)<\/li>\n<li>itziar Ochotorena (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ana Ayerdi Izquierdo En 1995 se describi\u00f3 en nature genetics una forma familiar de epilepsia de herencia [&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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