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El control genético de la expresión y el empalme en el desarrollo del cerebro humano informa los mecanismos de la

Rebecca L Walker¹, Gokul Ramaswami², Christopher Hartl³

¹Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, 695 Charles E. Young Drive South, Los Angeles, CA 90095, USA; Program in Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Interdepartmental Program in Bioinformatics, University of California, Los Angeles, Los Angeles, CA 90095, USA.

|October 19, 2019

Resumen

Las variaciones genéticas durante el desarrollo del cerebro prenatal tienen un impacto significativo en el riesgo de enfermedad neuropsiquiátrica. Este estudio identifica regiones reguladoras clave y genes involucrados en condiciones como la esquizofrenia y el trastorno del espectro autista.

Área de la Ciencia:

Neurogenética
Neurociencia del desarrollo
Genética psiquiátrica

Sus antecedentes:

Las regiones reguladoras específicas de los tejidos son cruciales para el riesgo de enfermedad genética.
El desarrollo del cerebro es un período clave para la susceptibilidad a las enfermedades neuropsiquiátricas.

Objetivo del estudio:

Caracterizar el control genético del transcriptoma durante el desarrollo del cerebro humano a mitad de la gestación.
Identificar las regiones reguladoras prenatales asociadas con el riesgo de enfermedad neuropsiquiátrica.
Descubrir nuevos genes de riesgo candidatos y mecanismos compartidos / específicos de la etapa en la esquizofrenia y el trastorno del espectro autista.

Principales métodos:

Análisis de los loci de rasgos cuantitativos de expresión génica (eQTL) y los loci de rasgos cuantitativos de empalme (sQTL) en 201 cerebros humanos de gestación media.
Integración de los datos de eQTL y sQTL con estudios de asociación de todo el genoma (GWAS) utilizando la asociación de todo el transcriptoma.
Análisis de redes genéticas para identificar módulos de coexpresión afectados en esquizofrenia y trastorno del espectro autista.

Principales resultados:

Identificación de 7.962 eQTL y 4.635 sQTL, incluidas miles de regiones reguladoras prenatales específicas.
Demostrar que la responsabilidad genética por enfermedades neuropsiquiátricas está relacionada con el eQTL y el sQTL prenatales.
Descubrimiento de docenas de nuevos genes de riesgo candidatos para la esquizofrenia, destacando mecanismos compartidos y específicos de la etapa.
Evidencia de que la esquizofrenia y el trastorno del espectro autista afectan a módulos de coexpresión génica de desarrollo distintos.
Convergencia de variación genética común y rara dentro de los módulos, implicando neuronas corticales superficiales en el trastorno del espectro autista.

Conclusiones:

La regulación genética prenatal juega un papel importante en la susceptibilidad a las enfermedades neuropsiquiátricas.
Los mecanismos genéticos compartidos y distintos subyacen a la esquizofrenia y al trastorno del espectro autista durante el desarrollo.
Los eventos del desarrollo tienen un amplio impacto en la función y el comportamiento del cerebro adulto, influenciados por la variación genética.

Palabras clave:

Las TWAS el autismo eQTL (en inglés)Redes genéticas regulación genética desarrollo cortical humano sQTL (en inglés)Esquizofrenia Reglamento de empalme

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