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El genoma del topo revela reordenamientos regulatorios asociados con la intersexualidad adaptativa
Francisca M Real1,2, Stefan A Haas3, Paolo Franchini4
1RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Science (New York, N.Y.)
|October 9, 2020
Resumen
Las reorganizaciones genómicas en los lunares femeninos explican la masculinización de los ovotestos. Este estudio revela cómo los cambios en la regulación genética impulsan el desarrollo sexual único de los mamíferos, impactando la genética evolutiva.
Área de la Ciencia:
- La genética evolutiva
- La genómica
- Reproducción de los mamíferos
Sus antecedentes:
- La vinculación de la variación genómica a los rasgos fenotípicos es un desafío clave en la genética evolutiva.
- Los mamíferos exhiben diversas estrategias reproductivas, con algunas especies que muestran patrones únicos de desarrollo sexual.
Objetivo del estudio:
- Investigar las bases genéticas de la masculinización de los ovotestos en las hembras de topos ibéricos (Talpa occidentalis).
- Identificar los reordenamientos genómicos y los cambios regulatorios responsables del desarrollo sexual alterado en esta especie.
Principales métodos:
- Análisis filogenómico mediante ensamblaje del genoma a escala cromosómica.
- Integración de los datos de las interacciones transcriptómicas, epigenéticas y cromatínicas.
- Validación funcional utilizando modelos de ratón transgénicos.
Principales resultados:
- Se identificó una triplicación en tándem de CYP17A1 (gen de síntesis de andrógenos) y una inversión de FGF9 (gen pro-testicular).
- Estas reorganizaciones alteran el paisaje regulador de los genes involucrados en el desarrollo gonadal.
- Los ratones transgénicos que imitaban estos cambios genéticos exhibieron fenotipos masculinizantes.
Conclusiones:
- Los enfoques genómicos integradores pueden descubrir el impacto de los cambios de secuencia no codificantes en la evolución fenotípica.
- Las reorganizaciones genómicas específicas en Talpa occidentalis son responsables del desarrollo de ovotestos masculinizantes.
- Este estudio proporciona información sobre los mecanismos genéticos subyacentes al desarrollo y la evolución sexual de los mamíferos.
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