Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau

Zhao, Mo; Kong, Qing‐Peng; Wang, Huawei; Peng, Min‐Sheng; Xie, Xiaodong; Wang, Wenzhi; Jiayang,; Duan, Jianguo; Cai, Ming-Cui; Zhao, Shi-Neng; Cidanpingcuo,; Tu, Yuan-Quan; Wu, Shi-Fang; Yao, Yong‐Gang; Bandelt, Hans Jürgen; Zhang, Yaping

doi:10.1073/pnas.0907844106

Cited by 208 publications

(193 citation statements)

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“…43 The ages of the lineages G2a2 (further defined by mutation 16193 and named G2a2 tentatively) and M9a1a2a (characterized by mutations 16145, 16316 and a back mutation at site 16362, and designated as M9a1a2a) (Table 4) were estimated by using the r statistic 44,45 with the suggested calibration rates. 44,46 RESULTS AND DISCUSSION On the basis of the combined information from control-region and partial coding-region segments, the majority (96.34%; 237/246) of the Nepalese mtDNAs could unambiguously be allocated into the defined haplogroups of East Eurasian (36.59%; 90/246), 1,[20][21][22][23][24][25] Table S1, Supplementary Material online), 5 and this pattern remains almost stable for both the East Eurasian (45.11%; 189/419) and South Asian (47.49%; 199/419) components after taking into account the recently reported Nepalese mtDNA data. 5 As for the 21 samples with ambiguously phylogenetic status, completely sequencing their mtDNA genomes revealed that virtually all of these samples in fact belong to the already defined haplogroups, such as M3, M5, M18, M30, M35, M43, D4, R8 and M60.…”

Section: Discussionmentioning

confidence: 99%

“…An mtDNA segment (spanning nucleotide position 16024-16569/1-576 and covering the whole-mtDNA control region) was amplified and sequenced as fully described in our previous works. 1,18 Mutations are recorded by comparing with the revised Cambridge reference sequence (rCRS). 19 All the individuals were allocated into specific haplogroup based on their control-region information; the assignments were further confirmed by typing additional diagnostic coding-region mutations according to the reconstructed phylogenetic trees of East Asian, 1,20-25 South Asian 5,7,12,[26][27][28][29][30][31][32][33] and Southeast Asian [34][35][36][37][38] (Supplementary Table S1, Supplementary Material online).…”

Section: Dna Amplification Sequencing and Quality Controlmentioning

confidence: 99%

“…For the mtDNA sample of interest, entire genome was amplified and sequenced as described elsewhere. 1,18 To avoid any potential problems in mtDNA data quality, necessary quality control measures 21 and some caveats 39 were followed as described previously. The new mtDNA sequences reported in this study have been deposited in GenBank under accession numbers JF742217-JF742461 (for control-region sequences) and JF742196-JF742216 (for whole-mitochondrial genomes).…”

Section: Dna Amplification Sequencing and Quality Controlmentioning

confidence: 99%

“…For instance, a recent study on mitochondrial genome information revealed that the modern humans had successfully colonized the Tibetan Plateau since the Late Pleistocene. 1 As a neighbor of Tibet, Nepal is located at the southern piedmont of the Himalayas and is bordered by India and China. Similar to the Tibetans, the Nepalese are also famous for their high-altitude living conditions.…”

Section: Introductionmentioning

confidence: 99%

“…1,13 To achieve this objective, mtDNA variation within a number of 246 Nepalese individuals from Kathmandu and eastern Nepal were collected and studied in this study (Supplementary Table S1, Supplementary Material online), and the recently released mtDNA data from Nepal 5 and the neighboring regions, especially those from Tibet, 1,13 northeast and northwest India 9-12,14-17 were also considered. To further understand the Nepalese mtDNA landscape, a total of 21 representative individuals were selected for completely mtDNA genome sequencing in order to unambiguously determine their phylogenetic status (Figure 2).…”

Section: Introductionmentioning

confidence: 99%

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Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomes

Wang

Sun

et al. 2012

J Hum Genet

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Himalayas was believed to be a formidably geographical barrier between South and East Asia. The observed high frequency of the East Eurasian paternal lineages in Nepal led some researchers to suggest that these lineages were introduced into Nepal from Tibet directly; however, it is also possible that the East Eurasian genetic components might trace their origins to northeast India where abundant East Eurasian maternal lineages have been detected. To trace the origin of the Nepalese maternal genetic components, especially those of East Eurasian ancestry, and then to better understand the role of the Himalayas in peopling Nepal, we have studied the matenal genetic composition extensively, especially the East Eurasian lineages, in Nepalese and its surrounding populations. Our results revealed the closer affinity between the Nepalese and the Tibetans, specifically, the Nepalese lineages of the East Eurasian ancestry generally are phylogenetically closer with the ones from Tibet, albeit a few mitochondrial DNA haplotypes, likely resulted from recent gene flow, were shared between the Nepalese and northeast Indians. It seems that Tibet was most likely to be the homeland for most of the East Eurasian in the Nepalese. Taking into account the previous observation on Y chromosome, now it is convincing that bearer of the East Eurasian genetic components had entered Nepal across the Himalayas around 6 kilo years ago (kya), a scenario in good agreement with the previous results from linguistics and archeology.

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Section: Discussionmentioning

confidence: 99%

Section: Dna Amplification Sequencing and Quality Controlmentioning

confidence: 99%

Section: Dna Amplification Sequencing and Quality Controlmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomes

Wang

Sun

et al. 2012

J Hum Genet

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

Cui

Ouzhuluobu

et al. 2014

Encyclopedia of Life Sciences

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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.

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Responses of Han Migrants Compared to Tibetans at High Altitude

Weitz

Liu

et al. 2013

American J Hum Biol

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While many studies have compared Tibetans and low-altitude born Han living at high altitude, few have carefully controlled the chronological age at which lowlanders migrated, the length of time they had lived at high altitude, their nutrition, and their socio-economic status. This has produced an array of results that frequently do not support the hypothesis that Tibetans and Han show fundamental differences in their response to hypoxia. Unlike the situation in the Andes, only one study has tested the developmental adaptation hypothesis on the Qinghai-Tibetan plateau. This study shows that Tibetans and Han of the same age, who were born and raised in the same towns at the same altitudes, show considerable overlap in the individual distribution of [Hb], SaO2 and lung volumes. These results indicate that second-generation Han make substantial developmental adjustments to hypoxia that are not reflected in studies of first-generation migrants. Thus, there is a great need for further developmental studies to determine whether and/or how Han and Tibetan responses to hypoxia diverge, as well as for studies exploring whether Han and Tibetans who show similar responses also share genetic adaptations.

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Mitochondrial genome evidence reveals successful Late Paleolithic settlement on the Tibetan Plateau

Cited by 208 publications

References 34 publications

Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomes

Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomes

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

Responses of Han Migrants Compared to Tibetans at High Altitude

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