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Una secuencia completa del genoma mitocondrial neandertal determinada por secuenciación de alto rendimiento.
Richard E Green1, Anna-Sapfo Malaspinas, Johannes Krause
1Max-Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. green@eva.mpg.de
Cell
|August 12, 2008
Resumen
Las secuencias de ADN mitocondrial (mtDNA) de Neandertal, distintas de las de los humanos modernos, sugieren un tiempo de divergencia de aproximadamente 660.000 años. El análisis revela una reducción de la selección purificadora en el ADNmt neandertal, lo que indica un pequeño tamaño de la población.
Área de la Ciencia:
- La paleogenética es la paleogenética.
- Biología evolutiva Biología evolutiva.
- Análisis de ADN antiguo Análisis de ADN antiguo.
Sus antecedentes:
- El ADN mitocondrial (mtDNA) proporciona información sobre la historia evolutiva y la genética de las poblaciones.
- Los neandertales son una especie de homínidos extintos estrechamente relacionados con los humanos modernos.
Objetivo del estudio:
- Para secuenciar y analizar el genoma mitocondrial completo de un individuo neandertal de hace 38.000 años.
- Determinar la relación evolutiva y el tiempo de divergencia entre los linajes de ADNmt de los neandertales y los humanos modernos.
- Para investigar los patrones de selección y el tamaño de la población en los neandertales.
Principales métodos:
- Reconstrucción del genoma mitocondrial a partir del antiguo ADN óseo.
- Secuenciación de alto rendimiento de aproximadamente 4.8 Gb de ADN.
- Análisis bioinformático de 8341 secuencias de ADNmt identificadas.
Principales resultados:
- La secuencia de ADNmt del neandertal está inequívocamente fuera de la variación que se encuentra en los ADNmt humanos existentes.
- La fecha estimada de divergencia entre los linajes de ADNmt del neandertal y el humano es de 660.000 +/- 140.000 años.
- La subunidad 2 de la citocromo c oxidasa mostró la mayor cantidad de sustituciones de aminoácidos desde la divergencia.
- La evidencia sugiere una reducción de la selección purificadora y un pequeño tamaño efectivo de la población en los neandertales.
Conclusiones:
- El ADNmt neandertal representa un linaje distinto y separado de los humanos modernos.
- La historia evolutiva de los neandertales puede haber implicado diferentes presiones selectivas y tamaños de población más pequeños en comparación con otros primates.
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