{"id":77094,"date":"2005-10-11T00:00:00","date_gmt":"2005-10-11T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/muscleblind-relevancia-cla%c2%adnica-y-analisis-de-la-funcion-molecular-en-drosophila-melanogaster\/"},"modified":"2005-10-11T00:00:00","modified_gmt":"2005-10-11T00:00:00","slug":"muscleblind-relevancia-cla%c2%adnica-y-analisis-de-la-funcion-molecular-en-drosophila-melanogaster","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/muscleblind-relevancia-cla%c2%adnica-y-analisis-de-la-funcion-molecular-en-drosophila-melanogaster\/","title":{"rendered":"Muscleblind, relevancia cl\u00ednica y an\u00e1lisis de la funci\u00f3n molecular en drosophila melanogaster"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Maya Pascual Lucas <\/strong><\/h2>\n<p>Muscleblind, abreviadamente mbl, es un gen esencial  en el desarrollo de drosophila melanogaste. En este trabajo identificamos y analizamos los genes mbl en el genoma humano encontrando que tienen una estructura genomica muy conservada y que por tanto se trata de genes paralogos. Los genes mbl humanos, gen\u00e9ricamente mbnl, est\u00e1n sujetos a un complejo patr\u00f3n de procesado alternativo y tienen patrones de expresi\u00f3n diferentes 10 que sugiere que realizan funciones distintas. Existe un solo gen mbl en invertebrados que se caracteriza por codificar una prote\u00edna con un par de dedos de zinc del tipo cx7cx6cx3h, mientras que en vertebrados existen tres genes cada uno de los cuales codifica una prote\u00edna con dos pares de dedos de zinc del mismo tipo.  el an\u00e1lisis de la secuencia de estos dedos de zinc sugiere que el segundo par de dedos de vertebrados ha surgido por duplicaci\u00f3n de los dos que existen en invertebrados. Las prote\u00ednas mbl humanas (mbln) est\u00e1n implicadas en la ruta de patogenesis de la distrofia miotonica (dm). En este trabajo, encontramos un polimorfismo en el gen mbl humano, mbnl 1, y analizamos su posible relevancia como modificador del fenotipo de la dm. Adem\u00e1s, descartamos la presencia de mutaciones en la regi\u00f3n codificante de mbnl 1 en pacientes con dm sin expansi\u00f3n en el gen dmpk y en pacientes con retinitis pigmentosa, y en el gen mbnl 3, en pacientes con ptosis congenita asociada al cromosoma x. Finalmente, desarrollamos dos aproximaciones para aportar datos sobre la funci\u00f3n molecular de mbl en un organismo f\u00e1cilmente manipulable como es drosphila. En una aproximaci\u00f3n gen\u00e9tica realizamos un rastreo de modificaciones dominantes del fenotipo de sobreexpresi\u00f3n de mbl en ojos. Los genes que han interaccionado con mbl pertenecen, principalmente, a una de estas tres categor\u00edas: metabolismo del rna, factores de transcripci\u00f3n y regulaci\u00f3n de la apoptosis, 10 que significa que la funci\u00f3n de mbl puede estar relacionad<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Muscleblind, relevancia cl\u00ednica y an\u00e1lisis de la funci\u00f3n molecular en drosophila melanogaster<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Muscleblind, relevancia cl\u00ednica y an\u00e1lisis de la funci\u00f3n molecular en drosophila melanogaster <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Maya Pascual Lucas <\/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 10\/11\/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>Rub\u00e9n Artero Allepuz<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jos\u00e9 Vi\u00f1a ribes <\/li>\n<li>patrick Morcillo (vocal)<\/li>\n<li> Font de mora sainz Jaime (vocal)<\/li>\n<li>francesc Palau mart\u00ednez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Maya Pascual Lucas Muscleblind, abreviadamente mbl, es un gen esencial en el desarrollo de drosophila melanogaste. En [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[212,36483,35,962,2820],"tags":[166159,54197,7414,166157,166158,119954],"class_list":["post-77094","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-biologia-molecular","category-ciencias-de-la-vida","category-genetica","category-genetica-humana","tag-font-de-mora-sainz-jaime","tag-francesc-palau-Martinez","tag-jose-vina-ribes","tag-maya-pascual-lucas","tag-patrick-morcillo","tag-ruben-artero-allepuz"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/77094","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=77094"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/77094\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=77094"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=77094"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=77094"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}