{"id":94621,"date":"2018-03-11T10:14:23","date_gmt":"2018-03-11T10:14:23","guid":{"rendered":""},"modified":"2018-03-11T10:14:23","modified_gmt":"2018-03-11T10:14:23","slug":"identificacion-y-caracterizacion-de-las-interacciones-proteicas-de-shox-busqueda-de-nuevos-genes-implicados-en-la-discondrosteosis-de-leri-weill-la-displasia-mesomelica-de-langer-y-la-talla-baja-idi","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/pediatria\/identificacion-y-caracterizacion-de-las-interacciones-proteicas-de-shox-busqueda-de-nuevos-genes-implicados-en-la-discondrosteosis-de-leri-weill-la-displasia-mesomelica-de-langer-y-la-talla-baja-idi\/","title":{"rendered":"Identificaci\u00f3n y caracterizaci\u00f3n de las interacciones proteicas de shox: busqueda de nuevos genes implicados en la discondroste\u00f3sis de l\u00e9ri-weill, la displasia mesom\u00e9lica de langer y la talla baja idiop\u00e1tica"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miriam Aza Carmona <\/strong><\/h2>\n<p>Resumen el gen shox codifica un factor de transcripci\u00f3n involucrado en el desarrollo esquel\u00e9tico. Alteraciones de este gen y de una regi\u00f3n 3\u00c2\u00bf del mismo han sido descritas en pacientes con discondroste\u00f3sis de l\u00e9ri-weill (dlw), displasia mesom\u00e9lica de langer y talla baja idiop\u00e1tica (tbi); desconoci\u00e9ndose el defecto molecular en una parte de los casos diagnosticados con dichas patolog\u00edas. La prote\u00edna shox ha sido implicada en la regulaci\u00f3n del ciclo celular y la apoptosis, pero se desconocen las prote\u00ednas con las que interacciona y en que v\u00eda(s) de se\u00f1alizaci\u00f3n est\u00e1 implicada. Mediante la t\u00e9cnica del doble h\u00edbrido de levaduras, se identificaron y caracterizaron las interacciones de esta prote\u00edna con maged1, sox5 y sox6; as\u00ed como las dimerizaciones formadas entre las distintas isoformas de shox y shox2. Ensayos de coinmunoprecipitaci\u00f3n y de colocalizaci\u00f3n in vivo demostraron la existencia de estas interacciones tambi\u00e9n en c\u00e9lulas humanas. El an\u00e1lisis mutacional de los genes shox2, maged1, sox5 y sox6 en una cohorte de individuos con dlw\/tbi sin defecto molecular conocido, descart\u00f3 que alteraciones en los mismos fueran la causa molecular de las patolog\u00edas de estos pacientes. La identificaci\u00f3n de estas interacciones proteicas ayudar\u00e1 a comprender mejor la acci\u00f3n de shox en el crecimiento humano y los posibles mecanismos que la regulan.   summary shox encodes a transcription factor involved in skeletal development. alterations of shox and a downstream region have been detected in patients with l\u00e9ri-weill dyschondrosteosis (lwd), langer mesomelic dysplasia (lmd) and idiopathic short stature (iss), whilst no molecular defect is detected in a variable proportion of lwd\/lmd\/iss cases. Shox has been implicated in the regulation of cell cycle and apoptosis, but its signalling pathways are unknown. Using the yeast two hybrid assay, we have identified and characterized three proteins which interact with shox: maged1, sox5 and sox6. We have also identified and characterized the dimerization of the different shox and shox2 isoforms. coimmunoprecipitation and in vivo colocalization assays have demonstrated the existence of these interactions also in human cells. Mutation screening of shox2, maged1, sox5 and sox6 in a lwd\/iss cohort without a known molecular defect suggests that these genes are not the molecular cause of these patients\u00c2\u00bf pathologies. The identified protein interactions will help us to further understand the biological function and the mechanisms that regulate shox in human growth.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identificaci\u00f3n y caracterizaci\u00f3n de las interacciones proteicas de shox: busqueda de nuevos genes implicados en la discondroste\u00f3sis de l\u00e9ri-weill, la displasia mesom\u00e9lica de langer y la talla baja idiop\u00e1tica<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identificaci\u00f3n y caracterizaci\u00f3n de las interacciones proteicas de shox: busqueda de nuevos genes implicados en la discondroste\u00f3sis de l\u00e9ri-weill, la displasia mesom\u00e9lica de langer y la talla baja idiop\u00e1tica <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miriam Aza Carmona <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 29\/06\/2009<\/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> Heath<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jos\u00e9 Quero jim\u00e9nez <\/li>\n<li>Santiago Rodriguez de cordoba (vocal)<\/li>\n<li>Miguel angel Moreno pelayo (vocal)<\/li>\n<li>victor Luis Ruiz perez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miriam Aza Carmona Resumen el gen shox codifica un factor de transcripci\u00f3n involucrado en el desarrollo esquel\u00e9tico. [&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":[161],"tags":[194964,7519,101827,194963,15504,194965],"class_list":["post-94621","post","type-post","status-publish","format-standard","hentry","category-pediatria","tag-heath","tag-jose-quero-jimenez","tag-miguel-angel-moreno-pelayo","tag-miriam-aza-carmona","tag-santiago-rodriguez-de-cordoba","tag-victor-luis-ruiz-perez"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/94621","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=94621"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/94621\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=94621"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=94621"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=94621"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}