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Un atlas de accesibilidad de la cromatina del telencefalo humano en desarrollo
Eirene Markenscoff-Papadimitriou1, Sean Whalen2, Pawel Przytycki2
1Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Cell
|July 2, 2020
Resumen
Los científicos mapearon la cromatina abierta en el cerebro humano en desarrollo para encontrar elementos reguladores que controlan la expresión génica. Este atlas revela potenciadores clave y su papel en el desarrollo neurológico y trastornos como el autismo.
Área de la Ciencia:
- La genómica
- La neurociencia
- Biología del desarrollo
Sus antecedentes:
- La especificidad de la expresión génica es crucial para el desarrollo del cerebro humano.
- Comprender los elementos regulatorios que impulsan esta especificidad es clave para descifrar los procesos de desarrollo neurológico.
Objetivo del estudio:
- Para crear un atlas de cromatina abierta en el desarrollo del cerebro humano.
- Identificar y caracterizar los elementos reguladores pronosticados que funcionan como potenciadores del desarrollo cerebral.
- Investigar el papel de estos elementos en la especificidad de la expresión génica regional, temporal y laminar.
Principales métodos:
- Generó un atlas de cromatina abierta de regiones disecadas del telencefalo humano y capas de la corteza prefrontal.
- Elementos reguladores pronosticados identificados en las regiones abiertas de la cromatina.
- Accesibilidad de la cromatina correlacionada con los datos de expresión génica.
- Utilizó la activación de CRISPR (CRISPRa) y experimentos transgénicos en ratones para validar la función del potenciador.
Principales resultados:
- Las PRE identificadas presentan diferencias temporales, regionales y laminares en la accesibilidad.
- Se encontraron correlaciones entre la accesibilidad de pRE y las variaciones de expresión génica.
- Se descubrieron variantes funcionales de novo en un pRE que regula el gen de riesgo de autismo SLC6A1.
- Actividad potenciadora validada para las pRE cerca de los genes FEZF2 y BCL11A.
Conclusiones:
- El atlas generado es un recurso valioso para comprender la regulación genética del desarrollo neurológico.
- Las pRE juegan un papel importante en la expresión génica específica del tipo de célula y de la región en el cerebro en desarrollo.
- Este trabajo proporciona información sobre la base genética de los trastornos del desarrollo neurológico.
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