ScienceDaily (July 2, 2010) — Tibetans have mutations in numerous genes related to how the body uses oxygen. A comparison of the genomes of 50 Tibetans and 40 Han Chinese shows that ethnic Tibetans split off from the Han less than 3,000 years ago and since then rapidly evolved a unique ability to thrive at high altitudes and low oxygen levels.
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Tibetan woman in Mount Everest National Park. The entire park is located above 3,000 m ( 9,700 ft). (Credit: iStockphoto/Bartosz Hadyniak)
"This is the fastest genetic change ever observed in humans," said Rasmus Nielsen, UC Berkeley professor of integrative biology, who led the statistical analysis. "For such a very strong change, a lot of people would have had to die simply due to the fact that they had the wrong version of a gene."
The widespread mutation in Tibetans is near a gene called EPAS1, a so-called "super athlete gene" identified several years ago and named because some variants of the gene are associated with improved athletic performance, Nielsen said. The gene codes for a protein involved in sensing oxygen levels and perhaps balancing aerobic and anaerobic metabolism.
The new findings could steer scientists to till-now unknown genes that play a role in how the body deals with decreased oxygen, and perhaps explain some diseases, including schizophrenia and epilepsy, associated with oxygen deprivation in the womb, he said.
Nielsen and his colleagues in China and Europe report their findings in the July 2 issue of the journal Science.
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Read more here/Leia mais aqui: Science Daily
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Science 2 July 2010:
Vol. 329. no. 5987, pp. 75 - 78
DOI: 10.1126/science.1190371
Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude
Xin Yi,1,2,* Yu Liang,1,2,* Emilia Huerta-Sanchez,3,* Xin Jin,1,4,* Zha Xi Ping Cuo,2,5,* John E. Pool,3,6,*Xun Xu,1 Hui Jiang,1 Nicolas Vinckenbosch,3 Thorfinn Sand Korneliussen,7 Hancheng Zheng,1,4 Tao Liu,1Weiming He,1,8 Kui Li,2,5 Ruibang Luo,1,4 Xifang Nie,1 Honglong Wu,1,9 Meiru Zhao,1 Hongzhi Cao,1,9Jing Zou,1 Ying Shan,1,4 Shuzheng Li,1 Qi Yang,1 Asan,1,2 Peixiang Ni,1 Geng Tian,1,2 Junming Xu,1Xiao Liu,1 Tao Jiang,1,9 Renhua Wu,1 Guangyu Zhou,1 Meifang Tang,1 Junjie Qin,1 Tong Wang,1Shuijian Feng,1 Guohong Li,1 Huasang,1 Jiangbai Luosang,1 Wei Wang,1 Fang Chen,1 Yading Wang,1Xiaoguang Zheng,1,2 Zhuo Li,1 Zhuoma Bianba,10 Ge Yang,10 Xinping Wang,11 Shuhui Tang,11Guoyi Gao,12 Yong Chen,5 Zhen Luo,5 Lamu Gusang,5 Zheng Cao,1 Qinghui Zhang,1 Weihan Ouyang,1Xiaoli Ren,1 Huiqing Liang,1 Huisong Zheng,1 Yebo Huang,1 Jingxiang Li,1 Lars Bolund,1Karsten Kristiansen,1,7 Yingrui Li,1 Yong Zhang,1 Xiuqing Zhang,1 Ruiqiang Li,1,7 Songgang Li,1Huanming Yang,1 Rasmus Nielsen,1,3,7, Jun Wang,1,7, Jian Wang1,
Residents of the Tibetan Plateau show heritable adaptations to extreme altitude. We sequenced 50 exomes of ethnic Tibetans, encompassing coding sequences of 92% of human genes, with anaverage coverage of 18x per individual. Genes showing population-specific allele frequency changes, which represent strong candidates for altitude adaptation, were identified. The strongest signal of natural selection came from endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1), a transcription factor involved in response to hypoxia. One single-nucleotide polymorphism (SNP) at EPAS1 shows a 78% frequency difference between Tibetan and Han samples, representing the fastest allele frequency change observed at any human gene to date. This SNP’s association with erythrocyte abundance supports the role of EPAS1 in adaptation to hypoxia. Thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude.
1 BGI-Shenzhen, Shenzhen 518083, China.
2 The Graduate University of Chinese Academy of Sciences, Beijing 100062, China.
3 Department of Integrative Biology and Department of Statistics, University of California Berkeley, Berkeley, CA 94820, USA.
4 Innovative Program for Undergraduate Students, School of Bioscience and Biotechnology, South China University of Technology, Guangzhou 510641, China.
5 The People’s Hospital of the Tibet Autonomous Region, Lhasa 850000, China. [Tibete, ocupado militarmente pela China desde outubro de 1950]
6 Department of Evolution and Ecology, University of California Davis, Davis, CA 95616, USA.
7 Department of Biology, University of Copenhagen, DK-1165 Copenhagen, Denmark.
8 Innovative Program for Undergraduate Students, School of Science, South China University of Technology, Guangzhou 510641, China.
9 Genome Research Institute, Shenzhen University Medical School, Shenzhen 518060, China.
10 The People’s Hospital of Lhasa, Lhasa, 850000, China. [Tibete, ocupado militarmente pela China desde outubro de 1950]
11 The Military General Hospital of Tibet, Lhasa, 850007, China. [Tibete, ocupado militarmente pela China desde outubro de 1950]
12 The hospital of XiShuangBanNa Dai Nationalities, Autonomous Jinghong 666100, Yunnan, China.
* These authors contributed equally to this work.
To whom correspondence should be addressed. E-mail: wangjian@genomics.org.cn (Ji.W.);wangj@genomics.org.cn (Ju.W.); rasmus_nielsen@berkeley.edu (R.N.)
Residents of the Tibetan Plateau show heritable adaptations to extreme altitude. We sequenced 50 exomes of ethnic Tibetans, encompassing coding sequences of 92% of human genes, with anaverage coverage of 18x per individual. Genes showing population-specific allele frequency changes, which represent strong candidates for altitude adaptation, were identified. The strongest signal of natural selection came from endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1), a transcription factor involved in response to hypoxia. One single-nucleotide polymorphism (SNP) at EPAS1 shows a 78% frequency difference between Tibetan and Han samples, representing the fastest allele frequency change observed at any human gene to date. This SNP’s association with erythrocyte abundance supports the role of EPAS1 in adaptation to hypoxia. Thus, a population genomic survey has revealed a functionally important locus in genetic adaptation to high altitude.
1 BGI-Shenzhen, Shenzhen 518083, China.
2 The Graduate University of Chinese Academy of Sciences, Beijing 100062, China.
3 Department of Integrative Biology and Department of Statistics, University of California Berkeley, Berkeley, CA 94820, USA.
4 Innovative Program for Undergraduate Students, School of Bioscience and Biotechnology, South China University of Technology, Guangzhou 510641, China.
5 The People’s Hospital of the Tibet Autonomous Region, Lhasa 850000, China. [Tibete, ocupado militarmente pela China desde outubro de 1950]
6 Department of Evolution and Ecology, University of California Davis, Davis, CA 95616, USA.
7 Department of Biology, University of Copenhagen, DK-1165 Copenhagen, Denmark.
8 Innovative Program for Undergraduate Students, School of Science, South China University of Technology, Guangzhou 510641, China.
9 Genome Research Institute, Shenzhen University Medical School, Shenzhen 518060, China.
10 The People’s Hospital of Lhasa, Lhasa, 850000, China. [Tibete, ocupado militarmente pela China desde outubro de 1950]
11 The Military General Hospital of Tibet, Lhasa, 850007, China. [Tibete, ocupado militarmente pela China desde outubro de 1950]
12 The hospital of XiShuangBanNa Dai Nationalities, Autonomous Jinghong 666100, Yunnan, China.
* These authors contributed equally to this work.
To whom correspondence should be addressed. E-mail: wangjian@genomics.org.cn (Ji.W.);wangj@genomics.org.cn (Ju.W.); rasmus_nielsen@berkeley.edu (R.N.)
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NOTA AUDACIOSA DESTE BLOGGER:
Fui comunista e considerava (historicamente) as invasões brutais do Tibete pelo exército do Grande Timoneiro chinês Mao Tse-tung em outubro de 1950, da Hungria em 1956. A invasão da Tchecoeslováquia em 1968, também brutal, já comunista militante, mexeram com o meu comunismo.
A China é invasora e deve sair do Tibete, já!
