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Regulación transcripcional humana específica de los genes de desarrollo del SNC por FOXP2
Genevieve Konopka1, Jamee M Bomar, Kellen Winden
1Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA. gena@alum.mit.edu
Nature
|November 13, 2009
Resumen
El gen FOXP2 humano.
Área de la Ciencia:
- La neurociencia es la neurociencia.
- Genética La genética.
- Biología evolutiva Biología evolutiva.
Sus antecedentes:
- Se desconocen las vías de señalización para la evolución y el desarrollo del lenguaje en el cerebro humano.
- FOXP2 (caja de mampara P2) es el único gen vinculado a los trastornos mendelianos del habla y el lenguaje.
- El impacto funcional de los cambios en los aminoácidos FOXP2 específicos del ser humano en las neuronas no ha sido probado.
Objetivo del estudio:
- Investigar las consecuencias funcionales de los cambios en los aminoácidos específicos del ser humano en FOXP2.2.
- Para identificar genes y vías reguladas por las variantes humanas de FOXP2.
- Explorar el papel de FOXP2 en el desarrollo del cerebro humano y la evolución del lenguaje.
Principales métodos:
- Ensayos de regulación de la transcripción in vitro.
- Estudios in vivo en cerebros humanos y de chimpancés.
- Análisis de red de genes expresados diferencialmente.
Principales resultados:
- Los aminoácidos específicos humanos en FOXP2 alteran su función reguladora de la transcripción.
- Se observaron patrones de expresión génica diferentes en los cerebros humanos frente a los de los chimpancés.
- Se identificaron nuevas relaciones entre los genes regulados por FOXP2 a través del análisis de redes.
Conclusiones:
- Los cambios en FOXP2 específicos del ser humano tienen consecuencias funcionales para la regulación transcripcional.
- Estos hallazgos apoyan la relevancia de la evolución de FOXP2 en el desarrollo del cerebro humano.
- Los objetivos identificados de FOXP2 pueden ser cruciales para el desarrollo y la evolución del circuito del lenguaje humano.
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