{"id":21124,"date":"2014-07-05T06:22:00","date_gmt":"2014-07-05T04:22:00","guid":{"rendered":"https:\/\/www.opc.cat\/un-equipo-del-cnio-reduce-el-tamano-del-genoma-humano-a-19-000-genes-2\/"},"modified":"2014-07-05T06:22:00","modified_gmt":"2014-07-05T04:22:00","slug":"un-equipo-del-cnio-reduce-el-tamano-del-genoma-humano-a-19-000-genes-2","status":"publish","type":"post","link":"https:\/\/www.opc.cat\/es\/un-equipo-del-cnio-reduce-el-tamano-del-genoma-humano-a-19-000-genes-2\/","title":{"rendered":"Un equipo del CNIO reduce el tama\u00f1o del genoma humano a 19.000 genes"},"content":{"rendered":"

C\u00f3mo se metabolizan los nutrientes o se comunican las neuronas en el cerebro son solo algunos de los mensajes contenidos en las 3.000 millones de letras que constituyen el genoma humano.<\/p>\n

La detecci\u00f3n y caracterizaci\u00f3n de los genes presentes en esta gran masa de informaci\u00f3n es una tarea compleja y ha sido fuente de continuo debate desde los primeros intentos sistem\u00e1ticos realizados por el Proyecto Genoma Humano hace m\u00e1s de diez a\u00f1os.<\/p>\n

Un trabajo liderado por Alfonso Valencia, vicedirector de Investigaci\u00f3n B\u00e1sica y jefe del Grupo de Biolog\u00eda Computacional Estructural del Centro Nacional de Investigaciones Oncol\u00f3gicas (CNIO), y Michael Tress, investigador del grupo, actualiza la cifra de genes humanos \u2013aquellos que generan prote\u00ednas\u2013 en 19.000, 1.700 menos que los estimados en las \u00faltimas anotaciones, y un n\u00famero muy inferior a los 100.000 que se llegaron a barajar hace a\u00f1os.<\/p>\n

El trabajo, que se publica en la revista Human Molecular Genetics, concluye que la pr\u00e1ctica totalidad de estos genes tienen un origen anterior a la aparici\u00f3n de los primates hace m\u00e1s de 50 millones de a\u00f1os.<\/p>\n

\u201cLa parte codificante del genoma \u2013la que produce prote\u00ednas\u2013 est\u00e1 en constante movimiento\u201d, y a\u00f1ade: \u201cNadie se pod\u00eda imaginar hace unos a\u00f1os que con un n\u00famero tan reducido de genes se pod\u00eda hacer algo tan complejo\u201d.\u201cEl menguante genoma humano\u201d. As\u00ed es como describe Valencia las continuas rectificaciones de las anotaciones del genoma humano, que han desembocado en el presente trabajo que contabiliza el n\u00famero de genes en aproximadamente 19.000.<\/p>\n

Los cient\u00edficos partieron de an\u00e1lisis prote\u00f3micos a gran escala para determinar el mapa de prote\u00ednas humanas \u201ca partir del cual identificar aquellos genes que las producen y de esta manera verificar que existen\u201d, explica Valencia.<\/p>\n

Para ello, integraron los datos procedentes de siete trabajos anteriores de espectrometr\u00eda de masas, la herramienta m\u00e1s potente para detectar mol\u00e9culas, en este caso prote\u00ednas procedentes de m\u00e1s de 50 tejidos humanos.<\/p>\n

Los resultados sacaron a la luz poco m\u00e1s de 12.000 prote\u00ednas, que casaron con las correspondientes regiones del genoma. Posteriormente analizaron miles de genes que aparec\u00edan en otras bases de datos pero no en el estudio.<\/p>\n

\n 
\n<\/p>\n

\nA diferencia de otros genes (arriba, medio), el gen ACO074091.13 (abajo) no produce prote\u00edna y podr\u00eda ser eliminado junto a otros 1.700 genes de las anotaciones actuales del genoma humano. \/ Michael Tress (CNIO)<\/p>\n

\u201cUn total de 1.700 de los genes que se consideraban como tal no lo son por distintas razones, incluyendo que o bien no generan directamente prote\u00ednas o porque su reading frame \u2013la lectura de sus letras\u2013 no es compatible con la generaci\u00f3n de las mismas\u201d, explica Tress.<\/p>\n

Menos de diez genes nuevos distinguen a humanos y ratones<\/p>\n

Una hip\u00f3tesis derivada del trabajo es que m\u00e1s del 90% de los genes humanos que producen prote\u00ednas tienen su origen en metazoos u organismos pluricelulares del reino animal hace cientos de millones de a\u00f1os; la cifra es superior al 99% para aquellos genes cuyo origen es anterior a la aparici\u00f3n de los primates hace m\u00e1s de 50 millones de a\u00f1os.<\/p>\n

\u201cNuestras cifras indican que las diferencias entre humanos y primates en genes o prote\u00ednas son muy peque\u00f1as\u201d, apuntan los investigadores. David de Juan, autor del trabajo e investigador del laboratorio de Valencia sostiene que \u201cel n\u00famero de genes \u2013originados de nuevo en t\u00e9rminos evolutivos\u2013 que separan a los humanos de los ratones\u2013[anteriores a los primates en la escala evolutiva\u2013 podr\u00eda ser inferior a diez\u201d.<\/p>\n

Esta cifra contrasta con los m\u00e1s de 500 genes humanos originados de nuevo desde primates seg\u00fan datos procedentes de la anotaci\u00f3n actual. Los investigadores concluyen: \u201cLas diferencias fisiol\u00f3gicas y de desarrollo entre primates son sobre todo en la regulaci\u00f3n y no en las funciones b\u00e1sicas de las prote\u00ednas\u201d.<\/p>\n

Hacer m\u00e1s con menos<\/b><\/p>\n

La fuentes de complejidad humana radican m\u00e1s que en el n\u00famero de genes en c\u00f3mo estos son utilizados, en las miles de modificaciones qu\u00edmicas que se producen en las prote\u00ednas o, seg\u00fan los \u00faltimos descubrimientos del proyecto internacional ENCODE, en el control de la producci\u00f3n de estas prote\u00ednas por las regiones no codificantes del genoma \u2013incluidas en el catalogado anteriormente como ADN basura, que compone el 90% de la totalidad del genoma\u2013.<\/p>\n

Los resultados de la investigaci\u00f3n forman parte de GENCODE, consorcio cient\u00edfico integrado en ENCODE en el que participan varios grupos de investigaci\u00f3n de todo el mundo \u2013entre ellos el equipo de Valencia\u2013 para introducir las nuevas anotaciones del genoma humano.El trabajo asemeja el n\u00famero de genes humanos al de otras especies como la de los nem\u00e1todos Caenorhabditis elegans, unos gusanos de apenas 1 mm aparentemente menos complejos que el ser humano. Pero Valencia prefiere no hacer comparaciones: \u201cCon este estudio ponemos en duda que todo lo que est\u00e1 anotado est\u00e9 bien, por lo que tendremos que rehacer todos los c\u00e1lculos, y no solo los del genoma humano\u201d.<\/p>\n

\u201cNuestros datos est\u00e1n siendo discutidos por GENCODE para incorporarlos en las nuevas anotaciones. Cuando esto ocurra habr\u00e1 que redefinir toda la cartograf\u00eda del genoma humano, que est\u00e1 siendo utilizado en macroproyectos como los relativos al an\u00e1lisis del genoma del c\u00e1ncer\u201d, sentencia Valencia.<\/p>\n

El estudio es el resultado de una colaboraci\u00f3n multidisciplinar que incluye an\u00e1lisis bioinform\u00e1ticos, gen\u00e9ticos y prote\u00f3micos de \u00faltima generaci\u00f3n, en el que han participado investigadores del Centro Nacional de Investigaciones Cardiovasculares (CNIC), adem\u00e1s del Welcome Trust Sanger Institute en Cambridge, Reino Unido, y de la Universidad de California Santa Cruz en EEUU.<\/p><\/div>\n

\n<\/div>\n
\nFuente: Agencia SINC<\/a><\/i><\/div>\n","protected":false},"excerpt":{"rendered":"

C\u00f3mo se metabolizan los nutrientes o se comunican las neuronas en el cerebro son solo algunos de los mensajes contenidos en las 3.000 millones de letras que constituyen el genoma humano. La detecci\u00f3n y caracterizaci\u00f3n de los genes presentes en esta gran masa de informaci\u00f3n es una tarea compleja y ha sido fuente de continuo […]<\/p>\n","protected":false},"author":1,"featured_media":24305,"comment_status":"","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_uag_custom_page_level_css":"","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":"","background-image":"","background-repeat":"repeat","background-position":"center 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