{"id":61781,"date":"2007-10-12T00:00:00","date_gmt":"2007-10-12T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/identificacion-y-caracterizacion-de-nuevas-variantes-alelicas-en-el-receptor-de-melanocortinas-1-humano\/"},"modified":"2007-10-12T00:00:00","modified_gmt":"2007-10-12T00:00:00","slug":"identificacion-y-caracterizacion-de-nuevas-variantes-alelicas-en-el-receptor-de-melanocortinas-1-humano","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica-molecular\/identificacion-y-caracterizacion-de-nuevas-variantes-alelicas-en-el-receptor-de-melanocortinas-1-humano\/","title":{"rendered":"Identificaci\u00f3n y caracterizaci\u00f3n de nuevas variantes al\u00e9licas en el receptor de melanocortinas 1 humano"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Petra Gonz\u00e1lez P\u00e9rez <\/strong><\/h2>\n<p>Las melaninas son los pigmentos que protegen a la epidermis humana de los efectos da\u00f1inos de la luz ultravioleta. Se han definido diferentes factores que contribuyen a la calidad, tipo y distribuci\u00f3n de las melaninas en la piel, cuyo determinante m\u00e1s importante en humanos es el sistema formado por a-msh y su receptor de membrana espec\u00edfico mc1r.  a-msh es un p\u00e9ptido de trece amino\u00e1cidos derivado de la proopiomelanocortina, hormona sintentizada por la pituitaria anterior y por c\u00e9lulas de la piel. Se trata de un mediador qu\u00edmico que aumenta la diferenciaci\u00f3n y proliferaci\u00f3n de los melanocitos en respuesta a la luz ultravioleta. Este p\u00e9ptido act\u00faa sobre su receptor en la membrana de los melanocitos mc1r para activar la s\u00edntesis de melaninas.  el gen que codifica para el mc1r es muy poliformo y ya han sido descritas numerosas mutaciones en \u00e9l. Algunas de estas variantes han sido relacionadas muy recientemente con pelo rojo, piel clara, pecas, riesgo elevado de c\u00e1ncer de piel as\u00ed como variaci\u00f3n en la sensibilizaci\u00f3n a algunos anest\u00e9sicos. Adem\u00e1s, exist\u00eda una discrepancia  en las dos secuencias publicadas por dos grupos distintos sobre la secuencia silvestre del receptor. Cuando iniciamos nuestro estudio, no exist\u00edan datos acerca de la distribuci\u00f3n de variantes del mc1r en la poblaci\u00f3n espa\u00f1ola. con estos antecedentes nos planteamos los siguientes objetivos: 1) identificar la secuencia salvaje del gen mc1r humano. 2) identificar variantes al\u00e9licas comunes en la poblaci\u00f3n espa\u00f1ola por secuenciaci\u00f3n de individuos de distintas caracter\u00edsticas fotot\u00edpicas.  3) caracterizar las variantes al\u00e9licas encontradas desde el punto de vista de su:   &#8211; frecuencia en la poblaci\u00f3n.   &#8211; distribuci\u00f3n por fototipos y color del pelo. 4) realizar un estudio funcional de las variantes encontradas, en cuanto a sus efectos sobre:   &#8211; los par\u00e1metros de uni\u00f3n de ligando.   &#8211; el acoplamiento a la v\u00eda de se\u00f1alizaci\u00f3n del ampc.  realizamos nuestro est<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identificaci\u00f3n y caracterizaci\u00f3n de nuevas variantes al\u00e9licas en el receptor de melanocortinas 1 humano<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identificaci\u00f3n y caracterizaci\u00f3n de nuevas variantes al\u00e9licas en el receptor de melanocortinas 1 humano <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Petra Gonz\u00e1lez P\u00e9rez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Murcia<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 10\/12\/2007<\/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>borr\u00f3n Mart\u00ednez Garc\u00eda<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Lozano Teruel Jos\u00e9 Antonio <\/li>\n<li>Mar\u00eda  Del Pilar Roca Salom (vocal)<\/li>\n<li>Guillermo Glover Lopez (vocal)<\/li>\n<li>Aurelio Luna Maldonado (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Petra Gonz\u00e1lez P\u00e9rez Las melaninas son los pigmentos que protegen a la epidermis humana de los efectos [&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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