Genetic structure in the Sherpa and neighboring Nepalese populations

BMC Genomics

Research Article

Hugh Montgomery¹  Sean Cox¹  Choongwon Jeong²  Anna Di Rienzo²  Masao Ota³  Nobumitsu Kobayashi³  Amy M. Cole⁴  Gianpiero L. Cavalleri⁴  Peter Robbins⁵  Nayia Petousi⁵  Yunden Droma⁶  Masayuki Hanaoka⁶  Dhana R. Aryal⁷  Paolo Gasparini⁸ 

[1] Centre for Human Health and Performance, and Institute for Sport, Exercise and Health, University College London, London, UK;Department of Human Genetics, University of Chicago, Chicago, USA;Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan;Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin, Ireland;Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK;First Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan;Paropakar Maternity and Women’s Hospital, Thapathali, Kathmandu, Nepal;University of Triests, Trieste, Italy;Division of Experimental Genetics, Sidra, Doha, Qatar;

关键词: Nepal;    Gene flow;    principal component analysis;    Admixture;    Sherpa;    Nepalese;    Tibetan;    Consanguinity;    Subpopulations;   

DOI  :  10.1186/s12864-016-3469-5

 received in 2016-08-06, accepted in 2016-12-23,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundWe set out to describe the fine-scale population structure across the Eastern region of Nepal. To date there is relatively little known about the genetic structure of the Sherpa residing in Nepal and their genetic relationship with the Nepalese. We assembled dense genotype data from a total of 1245 individuals representing Nepal and a variety of different populations resident across the greater Himalayan region including Tibet, China, India, Pakistan, Kazakhstan, Uzbekistan, Tajikistan and Kirghizstan. We performed analysis of principal components, admixture and homozygosity.ResultsWe identified clear substructure across populations resident in the Himalayan arc, with genetic structure broadly mirroring geographical features of the region. Ethnic subgroups within Nepal show distinct genetic structure, on both admixture and principal component analysis. We detected differential proportions of ancestry from northern Himalayan populations across Nepalese subgroups, with the Nepalese Rai, Magar and Tamang carrying the greatest proportions of Tibetan ancestry.ConclusionsWe show that populations dwelling on the Himalayan plateau have had a clear impact on the Northern Indian gene pool. We illustrate how the Sherpa are a remarkably isolated population, with little gene flow from surrounding Nepalese populations.

【 授权许可】

CC BY   
© The Author(s). 2017