{"id":14393,"date":"2001-12-12T00:00:00","date_gmt":"2001-12-12T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/identificacio-de-nous-gens-a-la-regio-cromosomica-21q22-caracterizacio-molecular-de-kcne2-i-kcne3\/"},"modified":"2001-12-12T00:00:00","modified_gmt":"2001-12-12T00:00:00","slug":"identificacio-de-nous-gens-a-la-regio-cromosomica-21q22-caracterizacio-molecular-de-kcne2-i-kcne3","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/identificacio-de-nous-gens-a-la-regio-cromosomica-21q22-caracterizacio-molecular-de-kcne2-i-kcne3\/","title":{"rendered":"Identificaci\u00f3 de nous gens a la regi\u00f3 cromos\u00f3mica 21q22. caracterizaci\u00f3 molecular de kcne2 i kcne3"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Anna Dom\u00e9nech Gimeno <\/strong><\/h2>\n<p>El objetivo de esta tesis es identificar nuevos genes de importancia relevante en el s\u00edndrome de down. La primera aproximaci\u00f3n, en la que se implicaron varios miembros del grupo de investigaci\u00f3n, fue la construcci\u00f3n de un mapa f\u00edsico y transcripcional de una 3 mb del cromosoma 21 (hsa21). se llev\u00f3 a cabo una selecci\u00f3n de cdna en la cual se identific\u00f3 un nuevo gen del hsa21 (no caracterizado en esta tesis). Posteriormente se cambi\u00f3 de estrategia i se llev\u00f3 a cabo una aproximaci\u00f3n in silico en la cual bases de datos de ests se compararon con secuencias gen\u00f3micas del hsa21. El estudio prosigui\u00f3 con un est humano. El cdna de 850 pb se asil\u00f3 de mrna de coraz\u00f3n y contiene una pauta de lectura abierta de 123 aa, y se le llam\u00f3 kcne2 debido a su similitud con el gen kcne1 (una subunidad de canales de potasio). kcne2 se expresa mayoritariamente en est\u00f3mago; codifica una prote\u00edna n-glicosilada en dos posiciones y se inserta en la membrana celular con su extremo n-terminal dirigido hacia el exterior celular. En dos pacientes con sordera no sindr\u00f3mica se encontr\u00f3 un cambio de nucle\u00f3tido a22g que provoca el cambio de aa t8a, que produce la p\u00e9rdida de un lugar consenso de n-glicosilaci\u00f3n. Con el prop\u00f3sito de identificar nuevas subunidades de canales de potasio dependientes de voltaje, se hizo una b\u00fasqueda con el programa blast en las bases de datos de ests con las secuencias de kcne1 y kcne2. El estudio continu\u00f3 con 8 ests la secuencia consenso de los cuales conten\u00eda una pauta de lectura abierta de 103 aa. El cdna se asil\u00f3 de mrna de colon humano i tiene 1646 pb. Este nuevo gen recibi\u00f3 el nombre de kcne3 debido a su similitud con kcne1 y kcne2, y se map\u00f3 en 11q13-14. Kcne3 se expresa en colon, intestino delgado, ovario y sangre perif\u00e9rica. Igual que los otros miembros de la familia, la prote\u00edna est\u00e1 n-glicosilada y se inserta en la membrana celular con su extremo n-terminal dirigido hacia el medio extrecelular. Se encontr\u00f3<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identificaci\u00f3 de nous gens a la regi\u00f3 cromos\u00f3mica 21q22. caracterizaci\u00f3 molecular de kcne2 i kcne3<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identificaci\u00f3 de nous gens a la regi\u00f3 cromos\u00f3mica 21q22. caracterizaci\u00f3 molecular de kcne2 i kcne3 <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Anna Dom\u00e9nech Gimeno <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/12\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rosa Mir\u00f3 <\/li>\n<li>montserrat Mila (vocal)<\/li>\n<li>bru Cormand (vocal)<\/li>\n<li>cristina Fillat (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Anna Dom\u00e9nech Gimeno El objetivo de esta tesis es identificar nuevos genes de importancia relevante en el 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