title: Genetic evidence of a recent Tibetan ancestry to Sherpas in the Himalayan region.
abstract: Sherpas living around the Himalayas are renowned as high-altitude mountain climbers but when and where the Sherpa people originated from remains contentious. In this study, we collected DNA samples from 582 Sherpas living in Nepal and Tibet Autonomous Region of China to study the genetic diversity of both their maternal (mitochondrial DNA) and paternal (Y chromosome) lineages. Analysis showed that Sherpas share most of their paternal and maternal lineages with indigenous Tibetans, representing a recently derived sub-lineage. The estimated ages of two Sherpa-specific mtDNA sub-haplogroups (C4a3b1 and A15c1) indicate a shallow genetic divergence between Sherpas and Tibetans less than 1,500 years ago. These findings reject the previous theory that Sherpa and Han Chinese served as dual ancestral populations of Tibetans, and conversely suggest that Tibetans are the ancestral populations of the Sherpas, whose adaptive traits for high altitude were recently inherited from their ancestors in Tibet.
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.|Kunming College of Life Science, University of Chinese Academy of Sciences, Beijing 100049, China.
authors.forename: Sushil
authors.initials: S
authors.lastname: Bhandari
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Zhang
authors.affiliation: High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China.
authors.forename: Chaoying
authors.initials: C
authors.lastname: Cui
authors.affiliation: High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China.
authors.lastname: Bianba
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Shiyu
authors.initials: S
authors.lastname: Liao
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Peng
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xiang
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.|Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan, 650500, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Shi
authors.affiliation: High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China.
authors.lastname: Ouzhuluobu
authors.affiliation: High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China.
authors.lastname: Baimakongzhuo
authors.affiliation: High Altitude Medical Research Center, School of Medicine, Tibetan University, Lhasa 850000, China.
authors.lastname: Gonggalanzi
authors.affiliation: National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining 810012, China.
authors.forename: Shimin
authors.initials: S
authors.lastname: Liu
authors.affiliation: National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining 810012, China.
authors.lastname: Gengdeng
authors.affiliation: National Key Laboratory of High Altitude Medicine, High Altitude Medical Research Institute, Xining 810012, China.
authors.forename: Tianyi
authors.initials: T
authors.lastname: Wu
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Xuebin
authors.initials: X
authors.lastname: Qi
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Su
mesh_terms: D000222:Adaptation, Physiological / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D005828:Genetics, Population / Q000379:methods; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000235:genetics; D009390:Nepal; D010802:Phylogeny; D018609:Tibet
chemical_list: D004272:DNA, Mitochondrial