{"id":2871,"date":"2026-02-06T00:42:26","date_gmt":"2026-02-06T07:42:26","guid":{"rendered":"https:\/\/buenosdiasbcs.com\/?p=2871"},"modified":"2026-02-06T00:42:28","modified_gmt":"2026-02-06T07:42:28","slug":"descubren-algo-en-el-adn-que-ha-dejado-aterrados-a-los-cientificos","status":"publish","type":"post","link":"https:\/\/buenosdiasbcs.com\/?p=2871","title":{"rendered":"Descubren algo en el ADN que ha dejado aterrados a los cient\u00edficos"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\" id=\"h-en-el-estudio-el-equipo-rastreo-variantes-hereditarias-extremadamente-raras-en-el-adn-de-mas-de-220-000-personas-y-las-comparo-en-torno-a-miles-de-genes-casi-15-000\">En el estudio, el equipo rastre\u00f3 variantes hereditarias extremadamente raras en el ADN de m\u00e1s de 220.000 personas y las\u00a0<a href=\"https:\/\/www.crg.eu\/en\/news\/new-mutation-hotspot-discovered-human-genome\" target=\"_blank\" rel=\"noreferrer noopener\">compar\u00f3<\/a>\u00a0en torno a miles de genes (casi 15.000). <\/h2>\n\n\n\n<p>Un grupo de genetistas ha puesto el foco en un lugar del&nbsp;<a href=\"https:\/\/www.ecoticias.com\/hoyeco\/se-ha-secuenciado-por-primera-vez-el-genoma-completo-de-un-egipcio-de-hace-casi-5-000-anos-y-los-resultados-conectan-el-nilo-con-mesopotamia\/32614\/\">genoma<\/a>&nbsp;que hasta ahora se trataba como \u201czona segura\u201d en muchos an\u00e1lisis (el arranque de los genes). En vez de encontrar una nueva \u201cmutaci\u00f3n monstruo\u201d, lo que han descubierto es algo m\u00e1s inc\u00f3modo para la gen\u00e9tica moderna (un punto ciego metodol\u00f3gico) que puede hacer que estemos infravalorando mutaciones relevantes en etapas muy tempranas del desarrollo.<\/p>\n\n\n\n<p>En el estudio, el equipo rastre\u00f3 variantes hereditarias extremadamente raras en el ADN de m\u00e1s de 220.000 personas y las&nbsp;<a href=\"https:\/\/www.crg.eu\/en\/news\/new-mutation-hotspot-discovered-human-genome\" target=\"_blank\" rel=\"noreferrer noopener\">compar\u00f3<\/a>&nbsp;en torno a miles de genes (casi 15.000). El patr\u00f3n fue claro (un exceso de mutaciones justo alrededor de los sitios de inicio de la transcripci\u00f3n, el tramo donde la c\u00e9lula empieza a copiar ADN a ARN).<\/p>\n\n\n\n<p>La parte intrigante lleg\u00f3 al contrastar esos resultados con bases de datos de mutaciones \u201cde novo\u201d (errores que aparecen en \u00f3vulos, espermatozoides o tras la fecundaci\u00f3n). Ah\u00ed, el \u201cpico\u201d casi desaparec\u00eda. El equipo lo resolvi\u00f3 al mirar un tipo de cambios que muchos pipelines tienden a filtrar como ruido (las mutaciones en mosaico tempranas, que surgen en las primeras divisiones del embri\u00f3n y quedan repartidas en parches por el cuerpo). Cuando se contabilizan de forma expl\u00edcita, el \u201cpunto caliente\u201d reaparece en el mismo sitio.<\/p>\n\n\n\n<p>El mecanismo propuesto tambi\u00e9n es un giro interesante (no depende del t\u00edpico \u201cfallo al copiar\u201d del ADN). El<a href=\"https:\/\/www.nature.com\/articles\/s41467-025-66201-0\" target=\"_blank\" rel=\"noreferrer noopener\">&nbsp;trabajo&nbsp;<\/a>vincula el hotspot con procesos propios del arranque de la transcripci\u00f3n como pausas de la ARN polimerasa II, transcripci\u00f3n divergente y estructuras tipo R loop, adem\u00e1s de roturas de doble hebra asociadas a mitosis (y no a meiosis). En la pr\u00e1ctica, eso sugiere que parte del riesgo se cocina cuando el embri\u00f3n crece a gran velocidad y el&nbsp;<a href=\"https:\/\/www.ecoticias.com\/hoyeco\/no-es-jurassic-park-pero-suena-igual-de-salvaje-quieren-obtener-huevos-con-adn-tipo-dodo-usando-palomas-y-gallinas-editadas-geneticamente\/32233\/\">ADN<\/a>&nbsp;se abre y se gestiona de forma especialmente intensa en esas zonas.<\/p>\n\n\n\n<p>\u00bfPor qu\u00e9 importa fuera del laboratorio?&nbsp; En gen\u00e9tica cl\u00ednica, muchas herramientas intentan estimar cu\u00e1ntas mutaciones \u201cdeber\u00edan\u201d aparecer en cada regi\u00f3n para decidir qu\u00e9 variantes merecen atenci\u00f3n. Si una fracci\u00f3n de mutaciones tempranas en mosaico se est\u00e1 perdiendo por filtros autom\u00e1ticos, podr\u00edamos estar infraestimando mutaciones relevantes cerca del inicio de los genes y afinando mal algunos modelos de riesgo.<\/p>\n\n\n\n<p>El valor pr\u00e1ctico del hallazgo no es alarmar, sino mejorar detecci\u00f3n (revisar descartes), interpretaci\u00f3n (ajustar expectativas por regi\u00f3n) y, con el tiempo, diagn\u00f3sticos de enfermedades raras donde el origen mutacional importa mucho.&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>En el estudio, el equipo rastre\u00f3 variantes hereditarias extremadamente raras en el ADN de m\u00e1s de 220.000 personas y las\u00a0compar\u00f3\u00a0en&#8230;<\/p>\n","protected":false},"author":2,"featured_media":2872,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[22],"tags":[],"class_list":["post-2871","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ciencia"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v26.8 (Yoast SEO v27.5) - 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