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Discriminación evolutiva de las secuencias no genéticas conservadas de mamíferos (CNG)
Emmanouil T Dermitzakis1, Alexandre Reymond, Nathalie Scamuffa
1Division of Medical Genetics and National Center of Competence in Research (NCCR) Frontiers in Genetics, University of Geneva Medical School and University Hospitals, 1211 Geneva, Switzerland. Emmanouil.Dermitzakis@medecine.unige.ch
Science (New York, N.Y.)
|October 4, 2003
Resumen
Las secuencias no genéticas conservadas (CNG) muestran una conservación evolutiva más profunda que los genes en los mamíferos. Una clase previamente desconocida de GNC altamente restringidos constituye una porción pequeña pero significativa del genoma de los mamíferos.
Área de la Ciencia:
- La genómica es la genómica.
- Biología evolutiva Biología evolutiva.
- La bioinformática es la bioinformática.
Sus antecedentes:
- Los genomas humanos y de ratón contienen numerosas secuencias no genéticas conservadas (CNG).
- El significado evolutivo y la profundidad de conservación de estos GNC no se entienden bien.
- La comprensión de los GNC es crucial para una visión integral de la evolución del genoma.
Objetivo del estudio:
- Cuantificar los niveles y patrones de conservación de 191 GNC del cromosoma 21 humano en 14 especies de mamíferos.
- Para comparar la conservación de los GNC con los genes codificantes de proteínas y los ARN no codificantes (ARNnc).
- Identificar clases potencialmente nuevas de elementos genómicos altamente restringidos.
Principales métodos:
- Análisis comparativo de genómica de 191 CNGs del cromosoma humano 21.
- Alineación de secuencias y análisis de patrones de sustitución en 14 especies de mamíferos, incluidos primates, marsupiales y monotremas.
- Comparación estadística de los niveles de conservación entre los GNC, los genes codificadores de proteínas y los ncRNA.
Principales resultados:
- Los CNG están significativamente más conservados que los genes codificadores de proteínas y los ncRNA en toda la clase de mamíferos.
- Los patrones de sustitución en los GNC difieren de los genes y se asemejan a los de las regiones de unión a las proteínas.
- Una clase previamente no identificada de GNC extremadamente restringidos, compartida entre los mamíferos, comprende del 0,3% al 1% del genoma humano.
Conclusiones:
- Los GNC representan un componente significativo y profundamente conservado del genoma de los mamíferos.
- Estos hallazgos sugieren que los GNC pueden desempeñar funciones funcionales cruciales, potencialmente involucrando interacciones con las proteínas.
- El descubrimiento de GNC extremadamente restringidos abre nuevas vías para comprender la función y la evolución del genoma.
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