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Updated: Feb 15, 2026
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Obtaining High-Quality Transcriptome Data from Cereal Seeds by a Modified Method for Gene Expression Profiling
Published on: May 21, 2020
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Exploración de los perfiles de expresión génica subyacentes de las diferencias en el desarrollo sexual a través del
Helena Fabbri-Scallet1,2, Verónica Calonga-Solís3, Gil Guerra-Júnior4,5
1Center for Molecular Biology and Genetic Engineering, State University of Campinas, São Paulo, Brazil. hfs@unicamp.br.
Scientific reports
|February 13, 2026
Resumen
Las diferencias del desarrollo sexual (DSD) implican características sexuales atípicas. Este estudio revela que las gónadas DSD exhiben una expresión génica intermedia, no un estado binario masculino o femenino, lo que ofrece nuevas perspectivas sobre el desarrollo sexual humano.
Área de la Ciencia:
- Genética
- Biología del Desarrollo
- Endocrinología
Sus antecedentes:
- Las diferencias del desarrollo sexual (DSD) son afecciones complejas que afectan el desarrollo sexual.
- Los factores genéticos en DSD están bien estudiados, pero los programas transcripcionales gonadales no lo están.
- Comprender la diferenciación gonadal en DSD es crucial para el diagnóstico y el tratamiento.
Objetivo del estudio:
- Investigar el panorama transcripcional del tejido gonadal en individuos con DSD.
- Comparar los patrones de expresión génica en gónadas DSD con el desarrollo masculino y femenino típico.
- Elucidar la base molecular de la identidad gonadal en DSD.
Principales métodos:
- Perfilado del transcriptoma de tejido gonadal de 11 individuos con DSD.
- Comparación con muestras de control coincidentes por etapa de desarrollo de conjuntos de datos públicos.
- Análisis de reducción de dimensionalidad utilizando genes de diferenciación sexual.
Principales resultados:
- Las muestras de DSD mostraron perfiles transcripcionales intermedios, sin alinearse con los patrones masculinos o femeninos típicos.
- La expresión génica varió, mostrando grados de masculinización o feminización independientemente del sexo cromosómico.
- Los genes clave de determinación sexual estaban desregulados, con una reducción de los marcadores ováricos y factores testiculares alterados.
Conclusiones:
- La identidad gonadal en DSD se describe mejor mediante un continuo transcripcional, no un modelo binario.
- Este estudio proporciona el primer análisis directo de la expresión génica en tejido gonadal DSD.
- Los hallazgos ofrecen nuevas perspectivas moleculares sobre la complejidad del desarrollo sexual humano.
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