{"ok":true,"nota":{"id":"bd1e8517e9e25a95","slug":"investigadores-identifican-38-variantes-geneticas-que-regulan-la-activ-bd1e85","titulo":"Investigadores identifican 38 variantes genéticas que regulan la actividad de genes vinculados al neurodesarro","resumen":"Analizaron 727 variantes asociadas a trastornos del neurodesarrollo y encontraron 38 que modifican la expresión génica en células neurales humanas. Luego las vincularon con genes candidatos mediante modelos y experimentos con CRISPR.","fuente":"biorxiv","fuenteNombre":"bioRxiv · preprints","color":"#be2628","autor":"Gomez, A., McAfee, J. C., Min, H., Ulloa Avila, T., Jones, S., Bell, J. L., Gao, Y., Hu, E., Li, H., Lee, S., Sadovnik, ","url":"https://www.biorxiv.org/content/10.64898/2026.10.21.760732v1?rss=1","imagen":"/hoy/portada/bd1e8517e9e25a95","tema":"ciencia","subtemas":["neurodesarrollo","variantes geneticas","regulacion genica","crispr","trastornos neurologicos"],"entidades":["bioRxiv"],"formato":"dato","entretenimiento":false,"pubTs":"2026-10-22T00:00:00.000Z","indexTs":"2026-10-22T10:38:41.125Z","hash":"5ced81f721861260a9c438a689c6115b473512e53fe80f15055be9f48bf40c93","tsa":{"time":"Oct 22 10:39:09 2026 GMT","provider":"freetsa.org","sobre":"sello"},"stats":{"views":0,"likes":0,"clicks":0,"dwell":0},"tipo":"normal","registro":"hallazgo","porQueImporta":"La mayoría de las variantes genéticas vinculadas a estos trastornos están fuera de los genes codificantes y su efecto era poco claro. Este trabajo muestra que 38 de ellas sí alteran la actividad de genes del desarrollo cerebral, lo que orienta la búsqueda de causas. Es un paso de laboratorio: no cambia diagnósticos ni tratamientos hoy, y los resultados aún no están revisados por pares.","quienFirma":"Preprint en bioRxiv (institución principal no identificada en la descripción)","confianza":"preprint","consulta":null},"sello":{"hash":"5ced81f721861260a9c438a689c6115b473512e53fe80f15055be9f48bf40c93","sello":"58a38175b0a77696dd20ba5c7f63d36751a7d90e056daa3cbe8d8cdad1bff0ea","beacon":{"drand":{"cadena":"8990e7a9aaed2ffed73dbd7092123d6f289930540d7651336225dc172e51b2ce","ronda":6574483,"aleatorio":"9801d1332798cbede2bf7a79e77928f4f345c08d34dd79d1c4c9c9c73783e9de","tiempo":"2026-10-22T10:38:30.000Z"},"nist":{"cadena":2,"pulso":1994441,"salida":"917B00588BBAF41DD8C461E7D93EA47DC73C00983776285722380061C2505D68D1C49D178A1E9E1A422EEA35DB6367141AB79828DD0F9592CE1805F752B02469","tiempo":"2026-10-22T10:32:00.000Z"},"noAntes":"2026-10-22T10:38:30.000Z"},"verificacion":{"drand":true,"nist":true},"tsa":{"time":"Oct 22 10:39:09 2026 GMT","provider":"freetsa.org","sobre":"sello"},"original":{"titulo":"Systematic Functional Interrogation of Neurodevelopmental Disorder Risk Variants","descripcion":"Neurodevelopmental disorders (NDDs) are highly polygenic, yet the functional consequences of most associated non-coding variants remain unclear. We used a massively parallel reporter assay (MPRA) to test 727 NDD-associated non-coding variants in human neural progenitors, identifying 38 expression-modulating variants (emVars) with regulatory activity. These emVars were predicted to alter transcription factor binding motifs linked to neurodevelopmental signaling and cellular metabolism. We mapped emVars to candidate target genes using expression quantitative trait loci and activity-by-contact (ABC) models. We then used CRISPR droplet sequencing (CROP-seq) in human pluripotent stem cell-derived","pubDate":"2026-10-22","url":"https://www.biorxiv.org/content/10.64898/2026.10.21.760732v1?rss=1"},"indexado":"2026-10-22T10:38:41.125Z"}}