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La pérdida humana específica del ADN regulador y la evolución de los rasgos humanos específicos
Cory Y McLean1, Philip L Reno, Alex A Pollen
1Department of Computer Science, Stanford University, Stanford, California 94305, USA.
Nature
|March 11, 2011
Resumen
La evolución humana implicó cambios genéticos específicos, incluidas las deleciones de ADN no codificante conservado. Estas deleciones cercanas a genes clave se correlacionan con rasgos humanos específicos como el desarrollo alterado del cerebro y la pérdida de ciertas características anatómicas.
Área de la Ciencia:
- Biología evolutiva Biología evolutiva.
- La genómica es la genómica.
- Genética humana Genética humana es la genética humana.
Sus antecedentes:
- Comprender la base genética de los rasgos humanos específicos es crucial para los estudios evolutivos.
- Los elementos reguladores en el ADN no codificante juegan un papel importante en la evolución fenotípica.
- Estudios previos identificaron cambios acelerados en la secuencia y expresión génica divergente en humanos.
Objetivo del estudio:
- Identificar eventos moleculares específicos, particularmente deleciones en regiones no codificantes conservadas, que pueden impulsar cambios regulatorios específicos para el ser humano.
- Investigar la correlación entre estas supresiones y las adaptaciones evolutivas humanas.
Principales métodos:
- Genómica comparativa: Comparaciones de todo el genoma entre humanos y otros mamíferos (por ejemplo, chimpancés).
- Identificación de secuencias eliminadas en humanos que están altamente conservadas en otros mamíferos.
- Análisis de la ubicación y la función reguladora potencial de estas deleciones, centrándose en las regiones no codificantes cercanas a los genes.
Principales resultados:
- Se identificaron 510 deleciones completas en humanos de secuencias conservadas en mamíferos, principalmente en regiones no codificantes.
- Las deleciones se enriquecieron cerca de los genes involucrados en la señalización de la hormona esteroide y la función neural.
- Las deleciones específicas se relacionaron con la pérdida de vibrisas sensoriales y espinas del pene dependientes de los andrógenos (cerca del gen del receptor de andrógenos) y la expansión alterada de la región cerebral (cerca del gen GADD45G).
Conclusiones:
- Las deleciones completas de potenciadores conservados son eventos moleculares significativos que contribuyen a la evolución humana.
- Estas supresiones pueden conducir tanto a la pérdida de rasgos ancestrales como a la ganancia de características nuevas.
- Este estudio proporciona ejemplos concretos de eventos de inactivación regulatoria que dan forma a la divergencia humana.
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