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Un gen para el locus de dilución de ojos rosados del ratón y para el albinismo oculocutáneo humano tipo II
E M Rinchik1, S J Bultman, B Horsthemke
1Biology Division, Oak Ridge National Laboratory, Tennessee 37831.
Nature
|January 7, 1993
Resumen
El gen P, un homólogo humano del gen de dilución (p) de los ojos rosados del ratón, se identifica como un transportador de membrana integral. Sus cambios de expresión se correlacionan con la pigmentación, y las mutaciones están relacionadas con el albinismo oculocutáneo y la hipopigmentación en los síndromes de Prader-Willi y Angelman.
Área de la Ciencia:
- Genética La genética.
- Biología Molecular Biología Molecular
- Dermatología Dermatología dermatología.
Sus antecedentes:
- El locus de dilución (p) de ojos rosados de ratón influye en la pigmentación de la piel, los ojos y el pelaje al afectar la producción de eumelanina y la morfología del melanosoma.
- Las mutaciones en el gen p del ratón reducen el pigmento marrón-negro (eumelanina) con un impacto mínimo en el pigmento amarillo-rojo (feomelanina).
Objetivo del estudio:
- Identificar el homólogo humano del gen p del ratón e investigar su papel en la pigmentación y trastornos relacionados.
- Para analizar los patrones de expresión del gen P humano identificado en modelos de ratón y condiciones genéticas humanas.
Principales métodos:
- El ADN complementario humano (DN10) se utilizó para identificar el gen P humano, un homólogo del gen p del ratón.
- Los patrones de expresión génica y los tamaños del ARN mensajero (ARNm) se analizaron en varios ratones mutantes y revertentes.
- Se mapeó la ubicación cromosómica del gen P humano y se investigó su asociación con los síndromes genéticos humanos.
Principales resultados:
- El gen P humano fue identificado como un transportador de membrana integral, con patrones de expresión correlacionados con los fenotipos de pigmentación del ratón.
- Se detectó un ARNm de tamaño anormal en un ratón mutante específico (p(un)) que se normalizó en los revertentes.
- El gen P humano se encuentra en el segmento del cromosoma 15q11-q13, una región eliminada en los síndromes de Prader-Willi y Angelman, y se encontraron mutaciones en un caso de albinismo oculocutáneo.
Conclusiones:
- El gen P humano es un regulador clave de la pigmentación, análogo al gen p del ratón.
- La supresión o mutación del gen P está implicada en la hipopigmentación asociada con los síndromes de Prader-Willi, Angelman y el albinismo oculocutáneo.
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