Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High-Altitude Adaptive Genetic Variants in Sherpa Highlanders.

Annals of human genetics - 1 May 2026

Droma Yunden, Yue Fengming, Ota Masao, Kobayashi Nobumitsu, Kitaguchi Yoshiaki, Hanaoka Masayuki

Abstract excerpt

BACKGROUND AND AIMS: Sherpa highlanders exhibit remarkable tolerance to hypoxia, most likely due to genetic adaptations shaped by natural selection at high altitude. This study examined the roles of endothelial PAS domain protein 1 (EPAS1) and egl-9 family hypoxia-inducible factor 1 (EGLN1) in the genetic mechanisms underlying this adaptation. METHODS: Blood samples were collected from 56 Sherpa highlanders...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptation, Physiological
Share to Altitude

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Basic Helix-Loop-Helix Proteins

Share to Down-Regulation

Share to Erythropoietin

Share to Hypoxia-Inducible Factor-Proline Dioxygenases

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 41655047
DOI: 10.1111/ahg.70034
PMCID: PMC13040315

Genes

EGLN1
EPAS1
EPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Downregulation of EPAS1 and EGLN1 mRNA Expression Associated With High-Altitude Adaptive Genetic Variants in Sherpa Highlanders.PMID 41655047Read ↗

Genetic variants in EPAS1 contribute to adaptation to high-altitude hypoxia in Sherpas.Semantic proximity Read ↗

Population History and Altitude-Related Adaptation in the SherpaSemantic proximity Read ↗

Andean and Tibetan patterns of adaptation to high altitude.Semantic proximity Read ↗

Adaptation to High Altitude: Phenotypes and GenotypesSemantic proximity Read ↗

Genome-wide analysis reveals adaptation to high altitudes in Tibetan sheep.Semantic proximity Read ↗

Functional EPAS1 / HIF2A missense variant is associated with hematocrit in Andean highlandersSemantic proximity Read ↗

Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.Semantic proximity Read ↗

High-impact Genetic Variants in EGLN1, EPAS1, and Other Genes Identified in Mountaineers by Exome Sequencing.Semantic proximity Read ↗

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

Hypobaric hypoxia drives selection of altitude-associated adaptative alleles in the Himalayan population.Semantic proximity Read ↗

Adaptive genetic changes related to haemoglobin concentration in native high-altitude Tibetans.Semantic proximity Read ↗

Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.