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Reconstruyendo la historia de la población india.

David Reich1, Kumarasamy Thangaraj, Nick Patterson

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Los estudios genéticos revelan que dos antiguas poblaciones indias, los indios ancestrales del norte (ANI) y los indios ancestrales del sur (ASI), dieron forma a la ancestralidad india moderna. ANI está vinculado a los eurasiáticos occidentales, mientras que ASI es distinto, con los isleños de Andamán mostrando una relación ASI pura.

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Área de la Ciencia:

  • Genética de la población Genética de la población.
  • Variación genética humana La variación genética humana.
  • La genómica es la genómica.

Sus antecedentes:

  • La subrepresentación de la India en los estudios de variación humana de todo el genoma.
  • Necesidad de comprender el paisaje genético de diversas poblaciones indias.

Objetivo del estudio:

  • Para identificar y caracterizar las antiguas poblaciones ancestrales en la India.
  • Para analizar la mezcla genética y la variación en 25 grupos indígenas diversos.

Principales métodos:

  • Análisis de todo el genoma de 25 poblaciones indias diversas.
  • Desarrollo de nuevos métodos para la estimación de la ascendencia sin poblaciones ancestrales predefinidas.
  • Comparación de frecuencias de alelos con poblaciones globales.

Principales resultados:

  • Fuertes evidencias de dos poblaciones ancestrales divergentes: los indios ancestrales del norte (ANI) y los indios ancestrales del sur (ASI).
  • La ascendencia ANI varía del 39-71% en los grupos indios, más alta en las castas superiores y los hablantes indoeuropeos.
  • Los isleños de Andamán representan grupos relacionados con ASI sin ascendencia ANI; los grupos ASI puros pueden no existir en la India continental.
  • Diferencias de frecuencia de alelos más grandes en la India que en Europa, lo que indica fuertes efectos fundadores y endogamia.

Conclusiones:

  • La mayoría de los indios descienden de una mezcla de poblaciones ANI y ASI.
  • La endogamia ha preservado las antiguas firmas genéticas y los efectos del fundador.
  • Predice un exceso de enfermedades recesivas en la India, susceptibles a la detección y cartografía genética.