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Whole-genome Sequences Provide Insights Into The Formation And Adaptation Of Human Populations In The Himalayas.

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Whole-genome Sequences Provide Insights Into The Formation And Adaptation Of Human Populations In The Himalayas.

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Whole-genome sequences provide insights into the formation and adaptation of human populations in the Himalayas.

Elena Arciero¹, Mohamed A Almarri², Massimo Mezzavilla³

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

Current Biology : CB

|July 11, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Genomic analysis of Himalayan populations reveals early human migration and adaptation to high altitudes, driven by genes like EPAS1. This research uncovers ancient population structures and gene flow shaping modern ethnic groups.

Keywords:

Himalayas admixture gene flow genetic structure high-altitude adaptation human diversity introgression migration positive selection whole-genome sequencing

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Area of Science:

Human evolutionary genetics
Population genomics
High-altitude adaptation

Background:

High-altitude environments present unique challenges for human survival and reproduction.
Understanding the demographic and adaptive histories of high-altitude populations is crucial.

Purpose of the Study:

To investigate the genomic history of diverse Himalayan populations.
To identify genetic adaptations to high-altitude environments.
To reconstruct population structure and migration patterns.

Main Methods:

Whole-genome sequencing of diverse Himalayan populations.
Analysis of population structure and demographic history.
Identification of selection signals in genes related to adaptation.

Main Results:

Himalayan population structure emerged as early as 10,000 years ago, predating permanent high-altitude habitation.
The adaptive EPAS1 haplotype is widespread, indicating a shared genetic origin for high-altitude survival.
Selection signals were found in genes related to hypoxia, physical activity, immunity, and metabolism.
Recent gene flow between high-altitude and lowland groups was detected, linked to historical empires and migrations.

Conclusions:

Himalayan populations exhibit ancient genomic structuring and significant adaptations to high-altitude living.
The EPAS1 gene played a key role in adaptation, with shared introgressed haplotypes across groups.
Gene flow and population dynamics were influenced by agriculture, historical events, and migrations.