{"id":85980,"date":"2018-03-10T00:10:29","date_gmt":"2018-03-10T00:10:29","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/contribucion-al-proyecto-genona-humano-construccion-de-mapas-fa%c2%adsicos-e-identificacion-y-caracterizacion-de-genes-en-la-region-del-cromosoma-21-asociada-al-sa%c2%adndrome-de-down\/"},"modified":"2018-03-10T00:10:29","modified_gmt":"2018-03-10T00:10:29","slug":"contribucion-al-proyecto-genona-humano-construccion-de-mapas-fa%c2%adsicos-e-identificacion-y-caracterizacion-de-genes-en-la-region-del-cromosoma-21-asociada-al-sa%c2%adndrome-de-down","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/contribucion-al-proyecto-genona-humano-construccion-de-mapas-fa%c2%adsicos-e-identificacion-y-caracterizacion-de-genes-en-la-region-del-cromosoma-21-asociada-al-sa%c2%adndrome-de-down\/","title":{"rendered":"Contribuci\u00f3n al proyecto genona humano: construcci\u00f3n de mapas f\u00edsicos e identificaci\u00f3n y caracterizaci\u00f3n de genes en la regi\u00f3n del cromosoma 21 asociada al s\u00edndrome de down,"},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Vidal Taboada Jos\u00e9 Manuel <\/strong><\/h2>\n<p>Como parte de un esfuerzo internacional para generar mapas f\u00edsicos y caracterizar genes del cromosoma 21 humano, el trabajo de la presente tesis doctoral se ha centrado en la caracterizaci\u00f3n de la regi\u00f3n del cromosoma 21 humano entre el marcador ctl5 y el gen sh3bgr, dentro de la regi\u00f3n conocida como dcr-2 (down syndrome critical regi\u00f3n-2).  se generado un mapa f\u00edsico basado en c\u00f3ntigos de clones c\u00f3smidos y de clones pacs cubriendo completamente la regi\u00f3n y que ha permitido la obtenci\u00f3n de los clones gen\u00f3micos necesarios para poder secuenciar la regi\u00f3n. Se ha generado un mapa de restricci\u00f3n de alta resoluci\u00f3n que permite calcular distancias entre los marcadores y los genes presentes en la regi\u00f3n.  el mapa f\u00edsico de alta resoluci\u00f3n generado tiene un tama\u00f1o aproximado de 560 kb. La obtenci\u00f3n de este mapa f\u00edsico ha permitido generar un mapa de transcripci\u00f3n que ha permitido localizar 5 genes presentes en la regi\u00f3n (dscr2, dscr7, hmg14, wrb y sh3bgr) as\u00ed como 34 clones cdnas que pueden estar fomando parte de nuevos genes localizados dentro de la regi\u00f3n.  se han aislado y caracterizado las secuencias de nucle\u00f3tidos y amino\u00e1cidos de dos nuevos genes en la regi\u00f3n (dscr2 y dscr7). Se ha caracterizado el patr\u00f3n de expresi\u00f3n de ambos genes en tejidos adultos y embrionarios humanos, as\u00ed como la expresi\u00f3n en diferentes l\u00edneas celulares humanas.  por \u00faltimo, se ha aislado y caracterizado los genes hom\u00f3logos en rat\u00f3n de los genes dscr2 y sh3bgr y se ha estudiado su patr\u00f3n de expresi\u00f3n en tejidos adultos y embrionarios de rat\u00f3n.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Contribuci\u00f3n al proyecto genona humano: construcci\u00f3n de mapas f\u00edsicos e identificaci\u00f3n y caracterizaci\u00f3n de genes en la regi\u00f3n del cromosoma 21 asociada al s\u00edndrome de down,<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Contribuci\u00f3n al proyecto genona humano: construcci\u00f3n de mapas f\u00edsicos e identificaci\u00f3n y caracterizaci\u00f3n de genes en la regi\u00f3n del cromosoma 21 asociada al s\u00edndrome de down, <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Vidal Taboada Jos\u00e9 Manuel <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 14\/07\/2000<\/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>Rafael Oliva Virgili<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: crist\u00f3bal Mezquita pl\u00e1 <\/li>\n<li>jaume Farr\u00e9s vic\u00e9n (vocal)<\/li>\n<li>pere Puigdomenech rosell (vocal)<\/li>\n<li>daniel Grinberg vaisman (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Vidal Taboada Jos\u00e9 Manuel Como parte de un esfuerzo internacional para generar mapas f\u00edsicos y caracterizar genes 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