{"id":89279,"date":"2001-12-03T00:00:00","date_gmt":"2001-12-03T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/variacion-haploide-en-secuencias-nucleares-humanas-el-pseudogen-gba\/"},"modified":"2001-12-03T00:00:00","modified_gmt":"2001-12-03T00:00:00","slug":"variacion-haploide-en-secuencias-nucleares-humanas-el-pseudogen-gba","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/desarrollo-humano\/variacion-haploide-en-secuencias-nucleares-humanas-el-pseudogen-gba\/","title":{"rendered":"Variacion haploide en secuencias nucleares humanas: el pseudogen gba"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Rosa Mart\u00ednez Arias <\/strong><\/h2>\n<p>Este estudio es una contribuci\u00f3n al an\u00e1lisis de la diversidad en el dna humano. Hemos trabajado con una zona no codificante autos\u00f3mica, el pseudog\u00e9n hom\u00f3logo al gen de la glucocerebrosidasa o gen gba, de la que hemos analizado la variabilidad en una muestra de representaci\u00f3n mundial. El an\u00e1lisis de la diversidad en el pseudog\u00e9n gba (psgba) se ha realizado desde la perspectiva de la gen\u00e9tica de poblaciones, desde la que hemos tratado de hacer inferencias aplicables a la historia de las poblaciones humanas. Se ha tomado tambi\u00e9n un punto de vista de la evoluci\u00f3n molecular m\u00e1s gen\u00f3mico para establecer la din\u00e1mica de la regi\u00f3n con lo que hemos trabajado y para entender las causas de espectro de variaci\u00f3n obtenido. Para ello, hemos analizado el papel de fen\u00f3menos como la mutaci\u00f3n, la recombinaci\u00f3n, la conversi\u00f3n g\u00e9nica y, especialmente, la selecci\u00f3n. Hemos detectado que la selecci\u00f3n, a trav\u00e9s de su efecto en el contexto gen\u00f3mico cercano a psgba, ha tenido un papel crucial en la formaci\u00f3n de la variabilidad en este locus. Por otra parte, mutaciones en el hom\u00f3logo funcional de psgba cona la causa principal de la enfermedad gaucher. Se sabe que psgba es importante en la producci\u00f3n de alelos complejos gba-psgba, que llevan a los tipos m\u00e1s severos de este trastorno. Hemos intentado ver como el conocimiento de la variabilidad en psgba ayuda al reconocimiento de estos alelos complejos, y por tanto al entendimiento de las bases moleculares de la enfermedad de gaucher. Finalmente, el disponer de datos de variabilidad de dos regiones par\u00e1logas, un gen y un pseudog\u00e9n, situadas en la misma regi\u00f3n cromos\u00f3mica (gba, de variaci\u00f3n ya conocida, y psgba, analizado en este trabajo) nos ha permitido comparar los patrones de mutaci\u00f3n que presenta una secuencia bajo diferentes presiones selectivas.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Variacion haploide en secuencias nucleares humanas: el pseudogen gba<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Variacion haploide en secuencias nucleares humanas: el pseudogen gba <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Rosa Mart\u00ednez Arias <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pompeu fabra<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/03\/2001<\/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>Jaume Bertranpetit Busquets<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: kenneth m. Weiss <\/li>\n<li>david de Lorenzo l\u00f3pez (vocal)<\/li>\n<li>anne Buchanan (vocal)<\/li>\n<li>julio Antonio Rozas liras (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Rosa Mart\u00ednez Arias Este estudio es una contribuci\u00f3n al an\u00e1lisis de la diversidad en el dna humano. [&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":[6354,18712],"tags":[185855,185854,19789,3203,185853,185852],"class_list":["post-89279","post","type-post","status-publish","format-standard","hentry","category-desarrollo-humano","category-pompeu-fabra","tag-anne-buchanan","tag-david-de-lorenzo-lopez","tag-jaume-bertranpetit-busquets","tag-julio-antonio-rozas-liras","tag-kenneth-m-weiss","tag-rosa-Martinez-arias"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/89279","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=89279"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/89279\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=89279"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=89279"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=89279"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}