High altitude genetic adaptation in Tibetans: No role of increased hemoglobin–oxygen affinity
نویسندگان
چکیده
منابع مشابه
Sherpas share genetic variations with Tibetans for high‐altitude adaptation
BACKGROUND Sherpas, a highlander population living in Khumbu region of Nepal, are well known for their superior climbing ability in Himalayas. However, the genetic basis of their adaptation to high-altitude environments remains elusive. METHODS We collected DNA samples of 582 Sherpas from Nepal and Tibetan Autonomous Region of China, and we measured their hemoglobin levels and degrees of bloo...
متن کاملGCH1 plays a role in the high-altitude adaptation of Tibetans
Tibetans are well adapted to high-altitude hypoxia. Previous genome-wide scans have reported many candidate genes for this adaptation, but only a few have been studied. Here we report on a hypoxia gene ( GCH1, GTP-cyclohydrolase I), involved in maintaining nitric oxide synthetase (NOS) function and normal blood pressure, that harbors many potentially adaptive variants in Tibetans. We resequence...
متن کاملDown-Regulation of EPAS1 Transcription and Genetic Adaptation of Tibetans to High-Altitude Hypoxia
Tibetans are well adapted to the hypoxic environments at high altitude, yet the molecular mechanism of this adaptation remains elusive. We reported comprehensive genetic and functional analyses of EPAS1, a gene encoding hypoxia inducible factor 2α (HIF-2α) with the strongest signal of selection in previous genome-wide scans of Tibetans. We showed that the Tibetan-enriched EPAS1 variants down-re...
متن کاملNew aspects of altitude adaptation in Tibetans: a proteomic approach.
A prolonged sojourn above 5500 m induces muscle deterioration and accumulation of lipofuscin in Caucasians, probably because of overproduction of reactive oxygen species (ROS). Because Sherpas, who live at high altitude, have very limited muscle damage, it was hypothesized that Himalayan natives possess intrinsic mechanisms protecting them from oxidative damage. This possibility was investigate...
متن کاملTwo functional loci in the promoter of EPAS1 gene involved in high-altitude adaptation of Tibetans
EPAS1 involves in the hypoxic response and is suggested to be responsible for the genetic adaptation of high-altitude hypoxia in Tibetans. However, the detailed molecular mechanism remains unknown. In this study, a single nucleotide polymorphism rs56721780:G>C and an insertion/deletion (indel) polymorphism -742 indel in the promoter region showed divergence between Tibetans and non-Tibetan lowl...
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ژورنال
عنوان ژورنال: Blood Cells, Molecules, and Diseases
سال: 2014
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2014.02.003