On the Origin of Tibetans and Their Genetic Basis in Adapting High-Altitude Environments

Wang, Binbin; Zhang, Yong-Biao; Zhang, Feng; Lin, Haoran; Wang, Xumin; Wan, Ning; Ye, Zhenqing; Weng, Haiyu; Zhang, Lili; Li, Xin; Yan, Jiangwei; Wang, Panpan; Wu, Tingting; Cheng, Longfei; Wang, Jing; Wang, Duen-Mei; Ma, Xu; Yu, Jun

doi:10.1371/journal.pone.0017002

Cited by 129 publications

(145 citation statements)

References 46 publications

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“…However, genetic adaptation can result from selection at more than one loci, and multiple studies indicate that Tibetan genetic selection has occurred not only at the PHD2 locus, but also at the HIF2A locus (3,(5)(6)(7)(8)(9). Importantly, two of these studies (3,5) demonstrated both a strong association between the Tibetan HIF2A haplotype and low hemoglobin concentration (which is controlled by the HIF-2␣ target gene, EPO (37)(38)(39)(40)), thereby providing compelling evidence that the HIF2A allele is a loss of function allele.…”

Section: Discussionmentioning

confidence: 99%

Defective Tibetan PHD2 Binding to p23 Links High Altitude Adaption to Altered Oxygen Sensing

Song

Arsenault

et al. 2014

Journal of Biological Chemistry

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Section: Discussionmentioning

confidence: 99%

Defective Tibetan PHD2 Binding to p23 Links High Altitude Adaption to Altered Oxygen Sensing

Song

Arsenault

et al. 2014

Journal of Biological Chemistry

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“…2 This disease is also observed in the highlands in immigrants who lived at sea level and were subsequently exposed to HA for several years. 27 This disease mainly occurs in populations with short-term residence at HA, as in some Andean 28 and most Han 29 and North American 30 inhabitants, whereas it is less common in Tibetans, 31 the group with the longest residence time in highland places. Hypoventilation, particularly during sleep, appears to be the dominant cause of hypoxaemia in patients with CMS.…”

Section: Chronic Hypoxaemia and Chronic Mountain Sickness (Cms)mentioning

confidence: 99%

Serum testosterone levels and excessive erythrocytosis during the process of adaptation to high altitudes

Gonzales

2013

Asian J Androl

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Populations living at high altitudes (HAs), particularly in the Peruvian Andes, are characterized by a mixture of subjects with erythrocytosis (16 g dl 21 ,haemoglobin (Hb)f21 g dl 21 ) and others with excessive erythrocytosis (EE) (Hb.21 g dl 21 ). Elevated haemoglobin values (EE) are associated with chronic mountain sickness, a condition reflecting the lack of adaptation to HA. According to current data, native men from regions of HA are not adequately adapted to live at such altitudes if they have elevated serum testosterone levels. This seems to be due to an increased conversion of dehydroepiandrosterone sulphate (DHEAS) to testosterone. Men with erythrocytosis at HAs show higher serum androstenedione levels and a lower testosterone/androstenedione ratio than men with EE, suggesting reduced 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity. Lower 17beta-HSD activity via D4-steroid production in men with erythrocytosis at HA may protect against elevated serum testosterone levels, thus preventing EE. The higher conversion of DHEAS to testosterone in subjects with EE indicates increased 17beta-HSD activity via the D5-pathway. Currently, there are various situations in which people live (human biodiversity) with low or high haemoglobin levels at HA. Antiquity could be an important adaptation component for life at HA, and testosterone seems to participate in this process.

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“…Third, we overlapped the "WA" dataset with genotype data for the Sherpa and Tibetans genotyped on Illumina arrays. Specifically, we took 21 Sherpa individuals described as the "high-altitude proxy" samples in a previous study (Jeong et al 2014) and 30 Tibetans from near Lhasa, Tibet Autonomous Region in China (Wang et al 2011). We used the overlapping 45,513 SNPs ("WHA" dataset, for worldwide, high-altitude and Ainu data) for most of the analyses along with the WA dataset to investigate the genetic relationships of the Ainu and the high-altitude East Asians.…”

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Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu

2015

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Despite recent advances in population genomics, much remains to be elucidated with regard to East Asian population history. The Ainu, a hunter-gatherer population of northern Japan and Sakhalin island of Russia, are thought to be key to elucidating the prehistory of Japan and the peopling of East Asia. Here, we study the genetic relationship of the Ainu with other East Asian and Siberian populations outside the Japanese archipelago using genome-wide genotyping data. We find that the Ainu represent a deep branch of East Asian diversity more basal than all present-day East Asian farmers. However, we did not find a genetic connection between the Ainu and populations of the Tibetan plateau, rejecting their long-held hypothetical connection based on Y chromosome data. Unlike all other East Asian populations investigated, the Ainu have a closer genetic relationship with northeast Siberians than with central Siberians, suggesting ancient connections among populations around the Sea of Okhotsk. We also detect a recent genetic contribution of the Ainu to nearby populations, but no evidence for reciprocal recent gene flow is observed. Whole genome sequencing of contemporary and ancient Ainu individuals will be helpful to understand the details of the deep history of East Asians. KEYWORDS Jomon; Tibet; migration; demography T HE rapid development of genomic technologies has greatly enhanced our understanding of the history of modern human dispersal out of Africa and the peopling of different continents (Li et al. 2008;Green et al. 2010;Reich et al. 2010). However, the history of populations in East Asia, including Siberia, remains poorly understood even though they account for a large fraction of the human population (Stoneking and Delfin 2010;Oota and Stoneking 2011). There is still no clear consensus regarding basic questions such as when, where, and how many times modern humans migrated into East Asia and Siberia. For example, several previous studies based on contemporary samples concluded that one migration from south to north could explain the genetic structure of East Asians (Li et al. 2008; HUGO Pan-Asian SNP Consortium 2009). However, recent studies indicate that this scenario is too simplistic: a recent study detected western Eurasian ancestry in an individual in southern Siberia 24,000 years ago as well as a substantial contribution of this ancestry to the gene pool of Native Americans (Raghavan et al. 2014), and several studies detected a clear genetic differentiation between northeast Siberians and central-south Siberians, with the latter being more closely related to northeast Asians (Rasmussen et al. 2010;Fedorova et al. 2013). Indigenous high-altitude populations of the Tibetan plateau provide another example of East Asian populations that do not fit into the simple one migration hypothesis. Tibetans and Sherpa show a divergent history from lowland East Asian populations such as Han Chinese (Jeong et al. 2014), and their adaptive haplotype spanning the EPAS1 (endothelial PAS domain-containing prote...

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On the Origin of Tibetans and Their Genetic Basis in Adapting High-Altitude Environments

Cited by 129 publications

References 46 publications

Defective Tibetan PHD2 Binding to p23 Links High Altitude Adaption to Altered Oxygen Sensing

Defective Tibetan PHD2 Binding to p23 Links High Altitude Adaption to Altered Oxygen Sensing

Serum testosterone levels and excessive erythrocytosis during the process of adaptation to high altitudes

Deep History of East Asian Populations Revealed Through Genetic Analysis of the Ainu

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