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Las deleciones no codificantes revelan un gen que es crítico para la función intestinal
Danit Oz-Levi1, Tsviya Olender1, Ifat Bar-Joseph2,3
1Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Nature
|June 21, 2019
Resumen
Las deleciones en la región crítica intestinal (ICR) causan diarrea congénita. Esta región regula el gen Percc1, esencial para el desarrollo intestinal, destacando la importancia de estudiar elementos genéticos no codificantes.
Área de la Ciencia:
- La genética
- Biología del desarrollo
- Gastroenterología
Sus antecedentes:
- La secuenciación del genoma a gran escala acelera el descubrimiento de mutaciones de enfermedades.
- La interpretación funcional de las mutaciones genéticas, especialmente las no codificantes, sigue siendo un desafío.
Objetivo del estudio:
- Investigar el papel funcional de la región crítica intestinal (ICR) en el cromosoma humano 16.
- Para identificar la base genética de la diarrea congénita.
Principales métodos:
- Pruebas de Reporter en ratones transgénicos para evaluar la función reguladora de la ICR.
- Eliminación dirigida de ICR en ratones para modelar la condición humana.
- Análisis del transcriptoma para identificar los genes de los flancos.
- Experimentos de nocaut y rescate del gen Percc1 en ratones.
Principales resultados:
- Las deleciones de ICR causan diarrea congénita intratable en los bebés.
- La ICR contiene una secuencia reguladora crucial para el desarrollo gastrointestinal.
- La pérdida de ICR conduce a la pérdida de la expresión del gen Percc1 en el intestino en desarrollo.
- Los ratones knockout de Percc1 presentan fenotipos similares a los de los ratones y pacientes con ICR eliminado.
- El transgén Percc1 impulsado por ICR rescata los fenotipos en ratones con ICR eliminado.
Conclusiones:
- Identifica Percc1 como un gen crítico para la función intestinal.
- Demuestra el papel crítico de la ICR en la regulación de Percc1 durante el desarrollo intestinal.
- Subraya la necesidad de estudios in vivo para interpretar los hallazgos genéticos fuera de las regiones codificadoras de proteínas.
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