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La selección natural en los genes codificadores de proteínas en el genoma humano
Carlos D Bustamante1, Adi Fledel-Alon, Scott Williamson
1Department of Biological Statistics and Computational Biology, 101 Biotechnology Building, Cornell University, Ithaca, New York 14853, USA. cdb28@cornell.edu
Nature
|October 21, 2005
Resumen
La selección natural ha moldeado significativamente la evolución molecular humana, con muchos genes que muestran una rápida evolución de aminoácidos o evidencia de selección purificadora. Este estudio revela la variación en los patrones de selección a través de diferentes procesos biológicos.
Área de la Ciencia:
- Biología evolutiva Biología evolutiva.
- Evolución molecular de la evolución molecular.
- La genómica es la genómica.
Sus antecedentes:
- Comparar el polimorfismo del ADN dentro de las especies con la divergencia entre especies ayuda a identificar la adaptación molecular y purificar la selección.
- Las especies exhiben diferentes grados de evolución molecular impulsada por una selección darwiniana débil, negativa y positiva.
Objetivo del estudio:
- Investigar el impacto de la selección natural en la reciente evolución molecular humana.
- Para contrastar los patrones de polimorfismo de secuencia de codificación en humanos con la divergencia entre humanos y chimpancés.
Principales métodos:
- Secuenciación directa de secuencias de codificación para más de 11.000 genes en 39 humanos.
- Análisis del polimorfismo del ADN en los seres humanos y la divergencia entre las especies humana y chimpancé.
Principales resultados:
- Se encontraron fuertes evidencias de que la selección natural ha dado forma a la reciente evolución molecular humana.
- 304 loci (9,0%) mostraron una rápida evolución de los aminoácidos, lo que indica una selección positiva.
- 813 loci (13,5%) exhibieron una falta de diferencias de aminoácidos, lo que sugiere una selección negativa o de equilibrio.
Conclusiones:
- La distribución de los genes seleccionados varía según los procesos biológicos y las funciones moleculares.
- Los factores de transcripción muestran un exceso de genes en rápida evolución.
- Las proteínas citoesqueléticas muestran un alto polimorfismo dentro de los humanos y una baja divergencia entre humanos y chimpancés.
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