{"id":42771,"date":"1999-12-03T00:00:00","date_gmt":"1999-12-03T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/organizacion-y-conservacion-molecular-de-tuple1-hira-un-gen-en-hemizigosis-en-pacientes-con-los-sindromes-microdelecionales-22q1\/"},"modified":"1999-12-03T00:00:00","modified_gmt":"1999-12-03T00:00:00","slug":"organizacion-y-conservacion-molecular-de-tuple1-hira-un-gen-en-hemizigosis-en-pacientes-con-los-sindromes-microdelecionales-22q1","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/organizacion-y-conservacion-molecular-de-tuple1-hira-un-gen-en-hemizigosis-en-pacientes-con-los-sindromes-microdelecionales-22q1\/","title":{"rendered":"Organizaci\u00f3n y conservacion molecular de tuple1\/hira, un gen en hemizigosis en pacientes con los sindromes microdelecionales 22q1."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Roser Llevadot Esquerda <\/strong><\/h2>\n<p>El sindrome de digeorge (dgs) es un defecto del dearrollo embrionario caracterizado por malformaciones cardiacas y faciales e hipoplasia del timo y de las glandulas paratiroideas. Este sindrome est\u00e1 asociado a hemicigosidad en la regi\u00f3n cromos\u00f3mica 22q11. Otras enfermedades con un gran solapamiento fenotipico con el dgs se encuentran tambien asociadas a hemicigosidad en 22q11, y se han englobado bajo el nombre de catch22. Aunque la mayoria de los pacientes presentan eliminaciones de 2 mb, se han determinado una region minima de solapamiento de 500 kb. Dentro de esta region se encuentra el gen tuple1\/hira. En esta tesis se describe la caracterizacion gen\u00f3mica de tuple1\/hira en humanos. Se ha determinado el numero de exones e intrones y sus imites, y se han dise\u00f1ado oligonucleotidos especificos que permiten la amplicaci\u00f3n independiente de cada uno de los 25 exones para facilitar el analisis mutacional de los pacientes dgs que no presentan la eliminaci\u00f3n. se ha construido un mapa fisico para los enzimas bamhi y bglii. Tuple1\/hira se ha clonado en fugu rubripes y drosophila melanogaster y se han comparado las secuencias. Se ha analizado la expresi\u00f3n de este gen en drosophila por hibridaci\u00f3n in situ en embriones y por northern. Se cree que la proteina tuple1\/hira forma parte de un complejo multiproteinico que regula la transcripc\u00f3n de otros genes. Se ha utilizado la t\u00e9cnica de lo dos h\u00edbridos para la b\u00fasqueda de proteinas que pudieran interaccionar con tuple1\/hira. Entre los clones positivos se ha aislado la nucleofosmina, cuya interacci\u00f3n con tuple1\/hira se ha comprobado en levadura.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Organizaci\u00f3n y conservacion molecular de tuple1\/hira, un gen en hemizigosis en pacientes con los sindromes microdelecionales 22q1.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Organizaci\u00f3n y conservacion molecular de tuple1\/hira, un gen en hemizigosis en pacientes con los sindromes microdelecionales 22q1. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Roser Llevadot Esquerda <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/03\/1999<\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: alberto Ferrus gamero <\/li>\n<li>jaume Campistol plana (vocal)<\/li>\n<li>susana De la luna gargantilla (vocal)<\/li>\n<li>Santiago Rodriguez de cordoba (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Roser Llevadot Esquerda El sindrome de digeorge (dgs) es un defecto del dearrollo embrionario caracterizado por malformaciones [&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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