{"id":79574,"date":"2018-03-09T23:25:26","date_gmt":"2018-03-09T23:25:26","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/evolucio-molecular-i-estudi-funcional-de-gens-localitzats-a-les-duplicacions-segmenta-ries-de-la-regio-7q11-23\/"},"modified":"2018-03-09T23:25:26","modified_gmt":"2018-03-09T23:25:26","slug":"evolucio-molecular-i-estudi-funcional-de-gens-localitzats-a-les-duplicacions-segmenta-ries-de-la-regio-7q11-23","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica-humana\/evolucio-molecular-i-estudi-funcional-de-gens-localitzats-a-les-duplicacions-segmenta-ries-de-la-regio-7q11-23\/","title":{"rendered":"Evoluci\u00f3 molecular i estudi funcional de gens localitzats a les duplicacions segment\u00c1\u00a0ries de la regi\u00f3 7q11.23"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Anna Antonell Boixader <\/strong><\/h2>\n<p>En este trabajo se presenta la evoluci\u00f3n molecular y estudio funcional de genes localizados en las duplicaciones segmentarias de la regi\u00f3n 7q11.23, implicada en el s\u00edndrome de williams-beuren (swb). Cada una de estas duplicaciones est\u00e1 formada por tres bloques llamados a, b y c. Se ha datado la aparici\u00f3n de estas duplicaciones en los \u00faltimos 25 millones de a\u00f1os de evoluci\u00f3n y caracterizado en detalle la regi\u00f3n 7q11.23 humanas y las ort\u00f3logas en otros primates (chimpanz\u00e9, gorila, orangut\u00e1n y macaco). Cada bloque ha evolucionado de manera independiente, siendo el bloque b exclusivamente duplicado en humanos. Adem\u00e1s se ha propuesto  un modelo evolutivo con reordenamientos espec\u00edficos (mayoritariamente inversiones) y mecanismos de generaci\u00f3n. Se han detectado secuencias alu en todos los extremos de los bloques de duplicaciones segmentarias, lo que sugiere que fen\u00f3menos de recombinaci\u00f3n hom\u00f3loga no al\u00e9lica entre estos han mediado la generaci\u00f3n y expansi\u00f3n local de las duplicaciones. La extraordinaria tasa de cambio evolutivo de esta regi\u00f3n, extrapolable a otras regiones del genoma ricas en duplicaciones segmentarias, hace que exista una variaci\u00f3n gen\u00f3mica importante entre especies de primates hominidos, la cual podr\u00eda se relevante funcionalmente y predisponer a enfermedad. correlaciones cl\u00ednico-moleculares en los pacientes con el swb han permitido determinar que la haploinsuficiencia por ncf1, un gen localizado en las duplicaciones y variablemente delecionado en los pacientes, es un factor protector por hipertensi\u00f3n. Se ha propuesto un modelo patog\u00e9nico para explicar esta asociaci\u00f3n, implicando la oxidasa nad(p)h y estr\u00e9s oxidativo. la haploinsuficiencia para el gen de la elastina presente en todos los pacientes con swb se sabe que conduce a estenosis vascular i predispone a hipertensi\u00f3n arterial, y junto con la no deleci\u00f3n del gen ncf1 y por tanto una capacidad normal de generar estr\u00e9s oxidativo, hace que los pacientes desarrollen hipe<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Evoluci\u00f3 molecular i estudi funcional de gens localitzats a les duplicacions segment\u00c1\u00a0ries de la regi\u00f3 7q11.23<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Evoluci\u00f3 molecular i estudi funcional de gens localitzats a les duplicacions segment\u00c1\u00a0ries de la regi\u00f3 7q11.23 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Anna Antonell Boixader <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pompeu fabra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 20\/04\/2006<\/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>Luis Alberto P\u00e9rez Jurado<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: xavier Estivill pallej? <\/li>\n<li>montserrat Garcia cald\u00e9s (vocal)<\/li>\n<li>angel Mar\u00eda Carracedo alvarez (vocal)<\/li>\n<li>carme Fuster marques (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Anna Antonell Boixader En este trabajo se presenta la evoluci\u00f3n molecular y estudio funcional de genes localizados [&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":[9399,5793,2820,18712,13954],"tags":[2945,170738,159292,53736,29397,29141],"class_list":["post-79574","post","type-post","status-publish","format-standard","hentry","category-cultivo-celular","category-fisiologia-cardiovascular","category-genetica-humana","category-pompeu-fabra","category-primates","tag-angel-maria-carracedo-alvarez","tag-anna-antonell-boixader","tag-carme-fuster-marques","tag-luis-alberto-perez-jurado","tag-montserrat-garcia-caldes","tag-xavier-estivill-pallej"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/79574","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=79574"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/79574\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=79574"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=79574"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=79574"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}