Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.

The Tibetan Plateau is one of the highest regions on Earth. Tibetan highlanders are adapted to life and reproduction in a hypoxic environment and possess a suite of distinctive physiological traits. Recent studies have identified genomic loci that have undergone natural selection in Tibetans. Two of...

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Main Authors: Petousi, N, Robbins, P
Format: Journal article
Language:English
Published: American Physiological Society 2014
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author Petousi, N
Robbins, P
author_facet Petousi, N
Robbins, P
author_sort Petousi, N
collection OXFORD
description The Tibetan Plateau is one of the highest regions on Earth. Tibetan highlanders are adapted to life and reproduction in a hypoxic environment and possess a suite of distinctive physiological traits. Recent studies have identified genomic loci that have undergone natural selection in Tibetans. Two of these loci, EGLN1 and EPAS1, encode major components of the hypoxia-inducible factor transcriptional system, which has a central role in oxygen sensing and coordinating an organism's response to hypoxia, as evidenced by studies in humans and mice. An association between genetic variants within these genes and hemoglobin concentration in Tibetans at high altitude was demonstrated in some of the studies (8, 80, 96). Nevertheless, the functional variants within these genes and the underlying mechanisms of action are still not known. Furthermore, there are a number of other possible phenotypic traits, besides hemoglobin concentration, upon which natural selection may have acted. Integration of studies at the genomic level with functional molecular studies and studies in systems physiology has the potential to provide further understanding of human evolution in response to high-altitude hypoxia. The Tibetan paradigm provides further insight on the role of the hypoxia-inducible factor system in humans in relation to oxygen homeostasis.
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spelling oxford-uuid:20bc54a6-dcb9-464a-ad9d-f4f4e46020f52022-03-26T11:29:15ZHuman adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:20bc54a6-dcb9-464a-ad9d-f4f4e46020f5EnglishSymplectic Elements at OxfordAmerican Physiological Society2014Petousi, NRobbins, PThe Tibetan Plateau is one of the highest regions on Earth. Tibetan highlanders are adapted to life and reproduction in a hypoxic environment and possess a suite of distinctive physiological traits. Recent studies have identified genomic loci that have undergone natural selection in Tibetans. Two of these loci, EGLN1 and EPAS1, encode major components of the hypoxia-inducible factor transcriptional system, which has a central role in oxygen sensing and coordinating an organism's response to hypoxia, as evidenced by studies in humans and mice. An association between genetic variants within these genes and hemoglobin concentration in Tibetans at high altitude was demonstrated in some of the studies (8, 80, 96). Nevertheless, the functional variants within these genes and the underlying mechanisms of action are still not known. Furthermore, there are a number of other possible phenotypic traits, besides hemoglobin concentration, upon which natural selection may have acted. Integration of studies at the genomic level with functional molecular studies and studies in systems physiology has the potential to provide further understanding of human evolution in response to high-altitude hypoxia. The Tibetan paradigm provides further insight on the role of the hypoxia-inducible factor system in humans in relation to oxygen homeostasis.
spellingShingle Petousi, N
Robbins, P
Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.
title Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.
title_full Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.
title_fullStr Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.
title_full_unstemmed Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.
title_short Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.
title_sort human adaptation to the hypoxia of high altitude the tibetan paradigm from the pregenomic to the postgenomic era
work_keys_str_mv AT petousin humanadaptationtothehypoxiaofhighaltitudethetibetanparadigmfromthepregenomictothepostgenomicera
AT robbinsp humanadaptationtothehypoxiaofhighaltitudethetibetanparadigmfromthepregenomictothepostgenomicera