High-altitude adaptation: mechanistic insights from integrated genomics and physiology

JF Storz - Molecular biology and evolution, 2021 - academic.oup.com
Population genomic analyses of high-altitude humans and other vertebrates have identified
numerous candidate genes for hypoxia adaptation, and the physiological pathways …

Gene regulation by histone-modifying enzymes under hypoxic conditions: a focus on histone methylation and acetylation

J Kim, H Lee, SJ Yi, K Kim - Experimental & Molecular Medicine, 2022 - nature.com
Oxygen, which is necessary for sustaining energy metabolism, is consumed in many
biochemical reactions in eukaryotes. When the oxygen supply is insufficient for maintaining …

Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders

ES Lawrence, W Gu, RJ Bohlender… - Science …, 2024 - science.org
Hypoxia-inducible factor pathway genes are linked to adaptation in both human and
nonhuman highland species. EPAS1, a notable target of hypoxia adaptation, is associated …

Evolutionary origin of genomic structural variations in domestic yaks

X Liu, W Liu, JA Lenstra, Z Zheng, X Wu, J Yang… - Nature …, 2023 - nature.com
Yak has been subject to natural selection, human domestication and interspecific
introgression during its evolution. However, genetic variants favored by each of these …

Complex regulatory networks influence pluripotent cell state transitions in human iPSCs

TD Arthur, JP Nguyen, A D'Antonio-Chronowska… - Nature …, 2024 - nature.com
Stem cells exist in vitro in a spectrum of interconvertible pluripotent states. Analyzing
hundreds of hiPSCs derived from different individuals, we show the proportions of these …

Genetic adaptation of skin pigmentation in highland Tibetans

Z Yang, C Bai, Y Pu, Q Kong, Y Guo… - Proceedings of the …, 2022 - National Acad Sciences
Strong ultraviolet (UV) radiation at high altitude imposes a serious selective pressure, which
may induce skin pigmentation adaptation of indigenous populations. We conducted skin …

Arctic introgression and chromatin regulation facilitated rapid Qinghai-Tibet Plateau colonization by an avian predator

L Hu, J Long, Y Lin, Z Gu, H Su, X Dong, Z Lin… - Nature …, 2022 - nature.com
Abstract The Qinghai-Tibet Plateau (QTP), possesses a climate as cold as that of the Arctic,
and also presents uniquely low oxygen concentrations and intense ultraviolet (UV) radiation …

A time-resolved multi-omics atlas of transcriptional regulation in response to high-altitude hypoxia across whole-body tissues

Z Yan, J Yang, WT Wei, ML Zhou, DX Mo… - Nature …, 2024 - nature.com
High-altitude hypoxia acclimatization requires whole-body physiological regulation in
highland immigrants, but the underlying genetic mechanism has not been clarified. Here we …

A pleiotropic hypoxia-sensitive EPAS1 enhancer is disrupted by adaptive alleles in Tibetans

OA Gray, J Yoo, DR Sobreira, J Jousma, D Witonsky… - Science …, 2022 - science.org
In Tibetans, noncoding alleles in EPAS1—whose protein product hypoxia-inducible factor
2α (HIF-2α) drives the response to hypoxia—carry strong signatures of positive selection; …

Regulation of chromatin accessibility by hypoxia and HIF

M Batie, J Frost, D Shakir, S Rocha - Biochemical Journal, 2022 - portlandpress.com
Reduced oxygen availability (hypoxia) can act as a signalling cue in physiological
processes such as development, but also in pathological conditions such as cancer or …