Prehistoric Colonization and Demographic History of Modern Humans on the Tibetan Plateau


Tibetans differ significantly from other human populations living at low elevations in terms of their superior physiological adaptation to hypoxia at high altitudes. These adaptations to hypoxic environments, such as those on the Tibetan Plateau, likely reflect a long history of colonisation in the area. Archaeologists have previously proposed the earliest human occupation of the Tibetan Plateau some 40 thousand years ago (ka) in the Upper Palaeolithic, but there is some controversy to this dating, as some researchers are sceptical of these Upper Palaeolithic autochthons surviving the harsh conditions of the Last Glacial Maximum (LGM, 22–18 ka), suggesting that modern Tibetans then descended from immigrants that settled the Plateau following the end of the LGM. Recent genetic evidence somewhat supports the earlier explanation of permanent colonisation of Tibetan Plateau likely 30 ka, during the early Upper Palaeolithic, followed by major migration(s) of Neolithic agriculturalists into the Plateau from the modern‐day northwestern China, eventually leading to the establishment of agriculture and pastoralism on the Plateau, which provided a sufficient and stable food supply necessary for the rapid population growth that occurred on the Plateau around 10–7 ka during the early Neolithic.

Key Concepts:

  • The Tibetan Plateau represents one of the most extreme environments for human settlement due to its severe hypoxia at high altitude, making it an ideal ‘natural laboratory’ for studying molecular mechanism of human adaptation to high‐altitude hypoxia.

  • Modern Tibetans possess superior physiological adaptations to hypoxia at high altitudes, likely due to a long history of colonisation of the Tibetan Plateau by their ancestral populations.

  • Researchers are divided on whether modern humans successfully settled on the Plateau during the Upper Palaeolithic and survived the harsh conditions of the Last Glacial Maximum (LGM, 22–18 ka), with sceptics arguing that Tibetans likely descended from postglacial immigrants that settled on the Plateau following the end of the LGM.

  • Recent application of phylogeographic analysis of Y chromosome and mtDNA lineages of modern human populations have proven to be powerful tools in inferring the demographic history of human populations, though there can be marked differences in the resulting models due to different samples and markers.

  • Genetic evidence supports the hypothesis of permanent colonisation of Tibetan Plateau approximately 30 ka in the early Upper Palaeolithic, with some portions of the population surviving the LGM and mixing with the later Neolithic immigrants, who introduced agriculture and pastoralism, which allowed for the rapid population expansion approximately 10–7 ka in the early Neolithic.

  • Both the Upper Palaeolithic autochthons and Neolithic agriculturalists significantly contributed to the observed genetic diversity and adaptation of present‐day Tibetan populations inhabiting the Tibetan Plateau.

  • Recent genetic findings provide novel insights into the prehistoric colonisation and human migration on the Tibetan Plateau, which may have implications to several different fields of study, as well as to genetic researchers in terms of subject selection for studies of genetic adaptation to high‐altitude hypoxia in Tibetan populations as well as others.

Keywords: Tibetan Plateau; human migration; demographic history; last glacial maximum; Neolithic agricultural diffusion

Figure 1.

Map of population distributions in the Tibetan Autonomous Region and sampling locations. Population data for each county was obtained from the census in 2000. The inset map showing the location of the Tibetan Plateau or Qinghai‐Tibetan Plateau, administratively including the Tibetan Autonomous Region (TAR), Qinghai Province (QH) and the peripheral areas belonging to Sichuan, Yunnan and Gansu Provinces (shown in blue colours). Dots on the map refer to the locations where 73 county administration centres are located, while the filled dots denote the 40 sampling locations used in the study by Qi et al. (). Several representative archaeological sites are also shown: the Upper Palaeolithic sites, P1, Siling Co (40–30 ka); P2, Chusang or the hand‐ and footprints site (21 ka), and the Neolithic sites, N1, Karou (5.9–4.2 ka); N2, Changguogou (4.0–3.5 ka); N3, Qugong (3.8–3.2 ka); N4, Bangga (3.0 ka). For more details regarding geographic distribution of the archaeological sites unearthed on the Tibetan Plateau, see Aldenderfer () and Aldenderfer and Zhang ().

Figure 2.

Y‐chromosomal phylogeny in Tibetan populations. Adapted with permission from Qi et al. (). © Oxford University Press. The figures represent the frequency of haplotypes or haplogroups in Tibetan populations. The basal lineages that occurred exclusively in Tibetan populations were used to date the initial permanent settlement on the Tibetan Plateau and showed in blue colour. The lineages that have experienced a rapid population expansion in the early Neolithic are shown in red colour.

Figure 3.

MtDNA phylogeny in Tibetan populations. Adapted with permission from Qi et al. (). © Oxford University Press. Major haplogroups are shown in coloured background. The basal lineages that occurred exclusively in Tibetan populations that used to date the initial permanent settlement on the Tibetan Plateau are shown in blue colour, and lineages that have experienced a rapid population expansion in the early Neolithic are shown in red.

Figure 4.

Chronology for the TMRCAs of major haplogroups in Tibetan populations. Data from Qi et al. (). Red arrowheads indicate the haplogroups that occurred exclusively in Tibetan populations, which were recognised as Tibetan specific haplogroups.



Aldenderfer M (2011) Peopling the Tibetan plateau: insights from archaeology. High Altitude Medicine & Biology 12: 141–147.

Aldenderfer M and Zhang Y (2004) The prehistory of the Tibetan plateau to the seventh century A.D.: perspectives and research from China and the West since 1950. Journal of World Prehistory 18: 1–55.

Barton L, Newsome SD, Chen FH et al. (2009) Agricultural origins and the isotopic identity of domestication in northern China. Proceedings of the National Academy of Sciences of the United States of America 106: 5523–5528.

Beall CM, Cavalleri GL, Deng L et al. (2010) Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proceedings of the National Academy of Sciences of the United States of America 107: 11459–11464.

Brantingham PJ, Gao X, Olsen JW et al. (2007) A short chronology for the peopling of the Tibetan plateau. In: Madsen DB, Chen F and Gao X (eds) Late Quaternary Climate Change and Human Adaptation in Arid China, pp. 129–150. Amsterdam: Elsevier.

Cai X, Qin Z, Wen B et al. (2011) Human migration through bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum revealed by Y chromosomes. PLoS One 6: e24282.

Cavalli‐Sforza LL and Feldman MW (2003) The application of molecular genetic approaches to the study of human evolution. Nature Genetics 33(suppl): 266–275.

Chen K‐Z and Bowler JM (1985) Preliminary study on sedimentary characteristics and evolution of palaeoclimate of Qarhan salt lake in Qaidam Basin. Scientia Sinica (Series B) 11: 1218–1231 (in Chinese).

Dai F, Nevo E, Wu D et al. (2012) Tibet is one of the centers of domestication of cultivated barley. Proceedings of the National Academy of Sciences of the United States of America 109: 16969–16973.

Endicott P, Ho SY, Metspalu M and Stringer C (2009) Evaluating the mitochondrial timescale of human evolution. Trends in Ecology & Evolution 24: 515–521.

Gao X, Zhou Z‐Y and Guan Y (2008) Human cultural remains and adaptation strategies in the Tibetan Plateau margin region in the late Pleistocene. Quaternary Sciences 28: 969–977 (in Chinese).

Gignoux CR, Henn BM and Mountain JL (2011) Rapid, global demographic expansions after the origins of agriculture. Proceedings of the National Academy of Sciences of the United States of America 108: 6044–6049.

Guo S, Savolainen P, Su J et al. (2006) Origin of mitochondrial DNA diversity of domestic yaks. BMC Evolutionary Biology 6: 73.

Hammer MF, Karafet TM, Park H et al. (2006) Dual origins of the Japanese: common ground for hunter‐gatherer and farmer Y chromosomes. Journal of Human Genetics 51: 47–58.

Hou G‐L, Xu C‐J and Fan Q‐S (2010) Three expansions of prehistoric humans towards northeast margin of Qinghai‐Tibet Plateau and environmental change. Acta Geographica Sinica 65: 65–71 (in Chinese).

Huerta‐Sanchez E, Jin X, Asan et al. (2014) Altitude adaptation in Tibetans caused by introgression of Denisovan‐like DNA. Nature 512: 194–197.

Lu H, Zhang J, Liu KB et al. (2009) Earliest domestication of common millet (Panicum miliaceum) in East Asia extended to 10,000 years ago. Proceedings of the National Academy of Sciences of the United States of America 106: 7367–7372.

Nonaka I, Minaguchi K and Takezaki N (2007) Y‐chromosomal binary haplogroups in the Japanese population and their relationship to 16 Y‐STR polymorphisms. Annals of Human Genetics 71: 480–495.

Peng MS, Palanichamy MG, Yao YG et al. (2011a) Inland post‐glacial dispersal in East Asia revealed by mitochondrial haplogroup M9a'b. BMC Biology 9: 2.

Peng Y, Yang Z, Zhang H et al. (2011b) Genetic variations in Tibetan populations and high‐altitude adaptation at the Himalayas. Molecular Biology and Evolution 28: 1075–1081.

Qi X, Cui C, Peng Y et al. (2013) Genetic evidence of paleolithic colonization and neolithic expansion of modern humans on the tibetan plateau. Molecular Biology and Evolution 30: 1761–1778.

Qin Z, Yang Y, Kang L et al. (2010) A mitochondrial revelation of early human migrations to the Tibetan Plateau before and after the last glacial maximum. American Journal of Physical Anthropology 143: 555–569.

Rhode D, Haiying Z, Madsen DB et al. (2007) Epipaleolithic/early Neolithic settlements at Qinghai Lake, western China. Journal of Archaeological Science 34: 600–612.

Scally A and Durbin R (2012) Revising the human mutation rate: implications for understanding human evolution. Nature Reviews Genetics 13: 745–753.

Shelach G (2000) The earliest Neolithic cultures of Northeast China: recent discoveries and new perspectives on the beginning of agriculture. Journal of World Prehistory 14: 363–413.

Shi H, Dong YL, Wen B et al. (2005) Y‐chromosome evidence of southern origin of the East Asian‐specific haplogroup O3‐M122. American Journal of Human Genetics 77: 408–419.

Shi H, Zhong H, Peng Y et al. (2008) Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations. BMC Biology 6: 45.

Shi Y‐F (2004) The emergence and abandonment of the ice sheet hypothesis over the Qinghai‐Xizang Plateau during the Ice Age. Quaternary Sciences 24: 10–18 (in Chinese).

Shi Y‐F and Zhao J‐D (2009) The special warm‐humid climate and environment in China during 40‐30 kaBP: discovery and review. Journal of Glaciology and Geocryology 31: 1–10 (in Chinese).

Shi Y‐F, Zheng B‐X and Li S‐J (1992) Last glaciation and maximum glaciation in the Qinghai‐Xizang (Tibet) Plateau: a controversy to M. Kuhle's ice sheet hypothesis. Chinese Geographical Science 2: 293–311.

Simonson TS, Yang Y, Huff CD et al. (2010) Genetic evidence for high‐altitude adaptation in Tibet. Science 329: 72–75.

Soares P, Trejaut JA, Loo JH et al. (2008) Climate change and postglacial human dispersals in southeast Asia. Molecular Biology and Evolution 25: 1209–1218.

Su B, Xiao C, Deka R et al. (2000) Y chromosome haplotypes reveal prehistorical migrations to the Himalayas. Human Genetics 107: 582–590.

Torroni A, Miller JA, Moore LG et al. (1994) Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. American Journal of Physical Anthropology 93: 189–199.

Underhill PA and Kivisild T (2007) Use of y chromosome and mitochondrial DNA population structure in tracing human migrations. Annual Review of Genetics 41: 539–564.

Wang Z, Shen X, Liu B et al. (2010) Phylogeographical analyses of domestic and wild yaks based on mitochondrial DNA: new data and reappraisal. Journal of Biogeography 37: 2332–2344.

Wang Z, Yonezawa T, Liu B et al. (2011) Domestication relaxed selective constraints on the yak mitochondrial genome. Molecular Biology and Evolution 28: 1553–1556.

Wang ZH (1994) History of Nationalities in China. Beijing: China Social Science Press.

Wen B, Li H, Lu D et al. (2004) Genetic evidence supports demic diffusion of Han culture. Nature 431: 302–305.

Wu T (2001) The Qinghai‐Tibetan plateau: how high do Tibetans live? High Altitude Medicine & Biology 2: 489–499.

Wu T and Kayser B (2006) High altitude adaptation in Tibetans. High Altitude Medicine & Biology 7: 193–208.

Xiang K, Ouzhuluobu, Peng Y et al. (2013) Identification of a Tibetan‐specific mutation in the hypoxic gene EGLN1 and its contribution to high‐altitude adaptation. Molecular Biology and Evolution 30: 1889–1898.

Xu S, Li S, Yang Y et al. (2011) A genome‐wide search for signals of high‐altitude adaptation in Tibetans. Molecular Biology and Evolution 28: 1003–1011.

Yan S, Wang CC, Li H et al. (2011) An updated tree of Y‐chromosome haplogroup O and revised phylogenetic positions of mutations P164 and PK4. European Journal of Human Genetics 19: 1013–1015.

Yang X, Wan Z, Perry L et al. (2012) Early millet use in northern China. Proceedings of the National Academy of Sciences of the United States of America 109: 3726–3730.

Yao YG, Kong QP, Bandelt HJ, Kivisild T and Zhang YP (2002) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. American Journal of Human Genetics 70: 635–651.

Zhang DD and Li SH (2002) Optical dating of Tibetan human hand‐ and footprints: An implication for the palaeoenvironment of the last glaciation of the Tibetan Plateau. Geophysical Research Letters 29: 1072–1074.

Zhao M, Kong QP, Wang HW et al. (2009) Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau. Proceedings of the National Academy of Sciences of the United States of America 106: 21230–21235.

Zheng HX, Yan S, Qin ZD et al. (2011) Major population expansion of East Asians began before neolithic time: evidence of mtDNA genomes. PLoS One 6: e25835.

Zheng HX, Yan S, Qin ZD and Jin L (2012) MtDNA analysis of global populations support that major population expansions began before Neolithic time. Scientific Reports 2: 745.

Further Reading

Beall CM, Jablonski NG and Steegmann AT (2012) Human adaptation to climate: temperature, ultraviolet radiation, and altitude. In: Stinson S, Bogin B and O'Rourke D (eds) Human Biology: An Evolutionary and Biocultural Perspective, 2nd edn, pp. 175–250. Hoboken, NJ: John Wiley & Sons, Inc. doi: 10.1002/9781118108062.ch6.

Frisancho AR (2013) Developmental functional adaptation to high altitude: review. American Journal of Human Biology 25: 151–168.

Julian CG, Wilson MJ and Moore LG (2009) Evolutionary adaptation to high altitude: a view from in utero. American Journal of Human Biology 21: 614–622.

Scheinfeldt LB and Tishkoff SA (2013) Recent human adaptation: genomic approaches, interpretation and insights. Nature Reviews Genetics 14: 692–702.

Shephard RJ (2008) Problems of high altitude. In: Shephard RJ and Åstrand P-O (eds) Endurance in Sport, 2nd edn, pp. 614–627. Oxford, UK: Blackwell Science Ltd. doi: 10.1002/9780470694930.ch41.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Qi, Xuebin, Cui, Chaoying, Ouzhuluobu, Wu, Tianyi, and Su, Bing(Nov 2014) Prehistoric Colonization and Demographic History of Modern Humans on the Tibetan Plateau. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0025527]