{"id":38767,"date":"1998-03-11T00:00:00","date_gmt":"1998-03-11T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisi-genetico-y-molecular-del-sindrome-de-down-aislamiento-de-genes-en-la-region-cromosomica-21q22-2-22-3-identificacion-y-caracterizacion-del-gen-minibrain-mnbh\/"},"modified":"1998-03-11T00:00:00","modified_gmt":"1998-03-11T00:00:00","slug":"analisi-genetico-y-molecular-del-sindrome-de-down-aislamiento-de-genes-en-la-region-cromosomica-21q22-2-22-3-identificacion-y-caracterizacion-del-gen-minibrain-mnbh","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/analisi-genetico-y-molecular-del-sindrome-de-down-aislamiento-de-genes-en-la-region-cromosomica-21q22-2-22-3-identificacion-y-caracterizacion-del-gen-minibrain-mnbh\/","title":{"rendered":"Analisi genetico y molecular del sindrome de down, aislamiento de genes en la region cromosomica 21q22.2-22.3. identificacion y caracterizacion del gen minibrain (mnbh)"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Jordi Guimera Vilaro <\/strong><\/h2>\n<p>Se ha contruido una genoteca de cosmidos a partir de 5 yacs (72h9,336g11, 238b1, 221b9, 552a 3) cubriendo un region genomica total de 2,2 mb, y especificas de 3 regiones del cromosoma 21 humano, incluyendo la region critica de la sindrome de down. Estos cosmidos se han ordenado secuencialmente en un mapa genomico. A partir de estos cosmidos, y a partir de una genoteca de cdna de cerebro humano fetal, y mediante la aplicaci\u00f3n de la tecnica de la selecci\u00f3n de cdna, se ha aislado y caracterizado 120 cdna parciales, de los cuales 45 son cdna no redundantes. Se ha integrado toda esta informacion en el mapa de cosmidos, conformando un nuevo mapa transcripcional.  se ha caracterizado la secuencia entera del cdna que representaba uno de estos nuevos cdnadel mapa transcripcional, que por su homolog\u00eda con el gen minibrain de drosophila, le hemos llamado minibrain homolog (m nbh). mnbh esta localizado en la region critica de la sindrome de down, entre los marcadores de dna d2js335 y d21s337, del cromosoma 21. Se han caracterizado diferentes splicings alternatvos, originando cuatro pautas de lectura abierta, llamadas mnbh-iso1, mnbh-iso2, mnbh-iso3, mnbh-iso4. El gen mnbh se expresa en todos los tejidos analizados, tanto humanos como de raton. En el cerebro de raton, se expresa mayoritariamente en el cerebelo, hipotalamo, hipocampo, corteza cerebral y bulbo olfatorio.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Analisi genetico y molecular del sindrome de down, aislamiento de genes en la region cromosomica 21q22.2-22.3. identificacion y caracterizacion del gen minibrain (mnbh)<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Analisi genetico y molecular del sindrome de down, aislamiento de genes en la region cromosomica 21q22.2-22.3. identificacion y caracterizacion del gen minibrain (mnbh) <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Jordi Guimera Vilaro <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 03\/11\/1998<\/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>Melanie Pritchard<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Antonio Zorzano olarte <\/li>\n<li>albert Boronat margosa (vocal)<\/li>\n<li>montserrat Mil\u00e1 recasens (vocal)<\/li>\n<li>mara Dierssen sotos (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Jordi Guimera Vilaro Se ha contruido una genoteca de cosmidos a partir de 5 yacs (72h9,336g11, 238b1, [&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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