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El gen de dilución de ojos rosados del ratón: asociación con los síndromes humanos de Prader-Willi y Angelman
J M Gardner1, Y Nakatsu, Y Gondo
1Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.
Science (New York, N.Y.)
|August 21, 1992
Resumen
Los investigadores identificaron el gen de la dilución de ojos rosados (p) en ratones, encontrando que su interrupción causa hipopigmentación. Este gen es este gen.
Área de la Ciencia:
- Genética La genética.
- Biología Molecular Biología Molecular
- Biología del desarrollo Biología del desarrollo.
Sus antecedentes:
- El locus de dilución (p) de ojos rosados en el cromosoma 7 del ratón es crucial para la pigmentación.
- Las mutaciones en el locus p conducen a un fenotipo de hipopigmentación.
Objetivo del estudio:
- Para aislar y caracterizar los clones de ADN complementario (ADNc) del ratón p locus.
- Para investigar la base genética del fenotipo de hipopigmentación en mutantes p.
- Para identificar y localizar el homólogo humano del gen p. del ratón.
Principales métodos:
- Aislamiento de clones de ADNc de las bibliotecas de melanoma murino y de melanocitos.
- Análisis de la expresión génica en seis alelos mutantes independientes del locus p.
- Localización del homólogo humano utilizando técnicas de mapeo cromosómico.
Principales resultados:
- Se descubrió que la transcripción del gen p estaba ausente o alterada en los seis alelos mutantes.
- La alteración de este gen se correlaciona directamente con el fenotipo de hipopigmentación.
- El homólogo humano del gen p fue localizado en el cromosoma 15q11.2-q11.2.2.
Conclusiones:
- El gen identificado es esencial para la pigmentación normal en ratones.
- Las alteraciones en este gen son la causa del fenotipo de dilución de ojos rosados.
- La ubicación del homólogo humano cerca de las regiones del síndrome de Prader-Willi y Angelman sugiere un papel en la hipopigmentación en estos trastornos.
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