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The Kalash genetic isolate: ancient divergence, drift, and selection.

Qasim Ayub¹, Massimo Mezzavilla², Luca Pagani³

¹Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

American Journal of Human Genetics

|May 5, 2015

Summary

The Kalash people in Pakistan are an ancient northern Eurasian population, not descended from Greeks. Genetic analysis reveals they are among the earliest West Asian migrants to the Indian subcontinent.

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Area of Science:

Population genetics
Ancient DNA analysis
Human migration

Background:

The Kalash are an isolated Indo-European speaking group in Pakistan's Hindu Kush mountains.
Previous genetic studies on Y chromosome and mitochondrial DNA markers did not support claims of Greek ancestry.
Autosomal DNA analysis indicated a significant genetic bottleneck in the Kalash population.

Observation:

Genotyping of 23 Kalash individuals and high-coverage sequencing of one male were performed.
Genetic comparisons were made with ancient hunter-gatherers and European farmers.
The Kalash exhibit genetic drift with Paleolithic Siberian hunter-gatherers.

Findings:

The Kalash may represent an ancient northern Eurasian population contributing to European and Near Eastern ancestry.
They have maintained a small effective population size since diverging from other South Asian populations.
No detectable gene flow from neighboring Pakistani or other Eurasian populations was observed.

Implications:

The Kalash are likely descendants of early West Asian migrants to the Indian subcontinent, diverging approximately 11,800 years ago.
Their genetic profile provides insights into early human migrations and population dynamics in South Asia.
This study refutes claims of Greek ancestry and highlights the importance of ancient DNA in understanding population origins.