On the Origin of Tibetans and Their Genetic Basis in Adapting High-Altitude Environments
Open Access
- 28 February 2011
- journal article
- research article
- Published by Public Library of Science (PLoS) in PLOS ONE
- Vol. 6 (2), e17002
- https://doi.org/10.1371/journal.pone.0017002
Abstract
Since their arrival in the Tibetan Plateau during the Neolithic Age, Tibetans have been well-adapted to extreme environmental conditions and possess genetic variation that reflect their living environment and migratory history. To investigate the origin of Tibetans and the genetic basis of adaptation in a rigorous environment, we genotyped 30 Tibetan individuals with more than one million SNP markers. Our findings suggested that Tibetans, together with the Yi people, were descendants of Tibeto-Burmans who diverged from ancient settlers of East Asia. The valleys of the Hengduan Mountain range may be a major migration route. We also identified a set of positively-selected genes that belong to functional classes of the embryonic, female gonad, and blood vessel developments, as well as response to hypoxia. Most of these genes were highly correlated with population-specific and beneficial phenotypes, such as high infant survival rate and the absence of chronic mountain sickness.Keywords
This publication has 48 references indexed in Scilit:
- Natural selection on EPAS1 ( HIF2α ) associated with low hemoglobin concentration in Tibetan highlandersProceedings of the National Academy of Sciences of the United States of America, 2010
- Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan PlateauProceedings of the National Academy of Sciences of the United States of America, 2009
- An integrative genomics approach identifies Hypoxia Inducible Factor-1 (HIF-1)-target genes that form the core response to hypoxiaNucleic Acids Research, 2009
- Signals of recent positive selection in a worldwide sample of human populationsGenome Research, 2009
- Worldwide Human Relationships Inferred from Genome-Wide Patterns of VariationScience, 2008
- Genome-wide detection and characterization of positive selection in human populationsNature, 2007
- The Himalayas as a Directional Barrier to Gene FlowAmerican Journal of Human Genetics, 2007
- A Fast and Flexible Statistical Model for Large-Scale Population Genotype Data: Applications to Inferring Missing Genotypes and Haplotypic PhaseAmerican Journal of Human Genetics, 2006
- Estimation of individual admixture: Analytical and study design considerationsGenetic Epidemiology, 2005
- Detecting recent positive selection in the human genome from haplotype structureNature, 2002