Human population history and genetic adaptation in the Himalayan region
type: CreativeWork
description: The Himalayan mountain range contains the highest peaks on Earth and has provided a diversity of environments for humans, some of which have required substantial genetic adaptation. I have used a combination of SNP-chip data, genome sequences and functional studies to explore the demographic history, genetic structure and signatures of adaptation in Himalayan populations. Eight hundred and eighty three individuals from 49 different autochthonous groups from Nepal, Bhutan, North India, and the Tibetan Plateau in China were genotyped for ~600,000 genome-wide SNPs. High-coverage whole-genome sequences of 87 individuals from a subset of these populations plus three additional ones were also generated. Himalayan populations share a common genetic component derived from a single ancestral population, followed by the development of local fine structure correlating with language and geographical distribution. I find higher genetic diversification within the Himalayan populations than in the surrounding regions which correlates with the distribution of Indo-European and Tibeto-Burman speakers, suggesting that both language and geography have influenced the genetic structure of these populations. I refined Himalayan population demographic history, using both autosomal and uniparental sequences. Himalayan populations display different proportions of gene flow with neighbouring populations and diverse effective population sizes and split times. The Y-chromosome lineages identified are common in South and East Asia and Tibet, but mostly form distinct clusters in the Himalayas. High altitude adaptation seems to have originated in a single ancestral population and then spread widely in the Himalayan region in the last 5,000 years. Genetic signatures of adaptation to high altitude are observed in the Endothelial PAS Domain Protein 1 gene (EPAS1) and several other known and novel candidates. EPAS1 has previously been reported to be under selection and involved in adaptation to livin…
abstract: The Himalayan mountain range contains the highest peaks on Earth and has provided a diversity of environments for humans, some of which have required substantial genetic adaptation. I have used a combination of SNP-chip data, genome sequences and functional studies to explore the demographic history, genetic structure and signatures of adaptation in Himalayan populations. Eight hundred and eighty three individuals from 49 different autochthonous groups from Nepal, Bhutan, North India, and the Tibetan Plateau in China were genotyped for ~600,000 genome-wide SNPs. High-coverage whole-genome sequences of 87 individuals from a subset of these populations plus three additional ones were also generated. Himalayan populations share a common genetic component derived from a single ancestral population, followed by the development of local fine structure correlating with language and geographical distribution. I find higher genetic diversification within the Himalayan populations than in the surrounding regions which correlates with the distribution of Indo-European and Tibeto-Burman speakers, suggesting that both language and geography have influenced the genetic structure of these populations. I refined Himalayan population demographic history, using both autosomal and uniparental sequences. Himalayan populations display different proportions of gene flow with neighbouring populations and diverse effective population sizes and split times. The Y-chromosome lineages identified are common in South and East Asia and Tibet, but mostly form distinct clusters in the Himalayas. High altitude adaptation seems to have originated in a single ancestral population and then spread widely in the Himalayan region in the last 5,000 years. Genetic signatures of adaptation to high altitude are observed in the Endothelial PAS Domain Protein 1 gene (EPAS1) and several other known and novel candidates. EPAS1 has previously been reported to be under selection and involved in adaptation to livin…
author: Arciero, Elena
language: en
keywords: Population genetics, Evolutionary genetics, Himalaya, Positive selection, Human genetics, Hypoxia
license: https://apollo8-f-pro.lib.cam.ac.uk/bitstreams/c9ebc296-9c2c-4d34-a272-7b631872ef6b/download
license: https://www.rioxx.net/licenses/all-rights-reserved/
date published: 2019-07-19
date modified: 2026-07-22T22:24:13Z
provider: Cambridge University
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: University of Cambridge

PropertyValue
property ID: DOI
value: 10.17863/CAM.38839