ArticleMolecular biology and evolution2017
New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude.
Article in Molecular biology and evolution, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 37 citations in OpenAlex.
- Chronic high-altitude exposure and intracerebral hemorrhage: A novel perspective from the vascular-immune-neuronal network.Neuroprotection (Chichester, England) · 2026Review
- Investigation into the efficacy of fully automated three-dimensional echocardiographic quantification software (3D Auto RV) for assessing right ventricular systolic function in patients suffering from chronic mountain sickness.Frontiers in cardiovascular medicine · 2026Article
- Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025Article
- Dysregulation of metabolites and high-altitude illnesses development under plateau conditions.Frontiers in physiology · 2025Review
- Altitude illnesses.Nature reviews. Disease primers · 2024Review
- FunctionalScience advances · 2024Article
- High altitude polycythemia and its maladaptive mechanisms: an updated review.Frontiers in medicine · 2024Review
- High-Altitude Hypoxia Induces Excessive Erythrocytosis in Mice via Upregulation of the IntestinalBiomedicines · 2023Article
- Long noncoding RNA HIKER regulates erythropoiesis in Monge's disease via CSNK2B.The Journal of clinical investigation · 2023Article
- Inactivation of Cops5 in Smooth Muscle Cells Causes Abnormal Reproductive Hormone Homeostasis and Development in Mice.Endocrinology · 2023Article
- Establishing a prediction model of severe acute mountain sickness using machine learning of support vector machine recursive feature elimination.Scientific reports · 2023Article
- Effect of High Altitude on the Survival of COVID-19 Patients in Intensive Care Unit: A Cohort Study.Journal of intensive care medicine · 2022Article
- Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures.Human genomics · 2022Review
- High-Altitude Erythrocytosis: Mechanisms of Adaptive and Maladaptive Responses.Physiology (Bethesda, Md.) · 2022Review
- ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease.Experimental & molecular medicine · 2022Article
- A Critical Analysis of the Automated Hematology Assessment in Pregnant Women at Low and at High Altitude: Association between Red Blood Cells, Platelet Parameters, and Iron Status.Life (Basel, Switzerland) · 2022Article
- Heterozygous Tropomodulin 3 mice have improved lung vascularization after chronic hypoxia.Human molecular genetics · 2022Article
- Same total normal forms sperm counts of males from Lhasa and Shanghai, China.Environmental science and pollution research international · 2022Article
- Hematological Parameters, Lipid Profile, and Cardiovascular Risk Analysis Among Genotype-Controlled Indigenous Kiwcha Men and Women Living at Low and High Altitudes.Frontiers in physiology · 2021Article
- Protective role of estrogen against excessive erythrocytosis in Monge's disease.Experimental & molecular medicine · 2021Article
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14 authors at 5 institutions in 2 countries.
Funding
Abstract
Human high-altitude (HA) adaptation or mal-adaptation is explored to understand the physiology, pathophysiology, and molecular mechanisms that underlie long-term exposure to hypoxia. Here, we report the results of an analysis of the largest whole-genome-sequencing of Chronic Mountain Sickness (CMS) and nonCMS individuals, identified candidate genes and functionally validated these candidates in a genetic model system (Drosophila). We used PreCIOSS algorithm that uses Haplotype Allele Frequency score to separate haplotypes carrying the favored allele from the noncarriers and accordingly, prioritize genes associated with the CMS or nonCMS phenotype. Haplotypes in eleven candidate regions, with SNPs mostly in nonexonic regions, were significantly different between CMS and nonCMS subjects. Closer examination of individual genes in these regions revealed the involvement of previously identified candidates (e.g., SENP1) and also unreported ones SGK3, COPS5, PRDM1, and IFT122 in CMS. Remarkably, in addition to genes like SENP1, SGK3, and COPS5 which are HIF-dependent, our study reveals for the first time HIF-independent gene PRDM1, indicating an involvement of wider, nonHIF pathways in HA adaptation. Finally, we observed that down-regulating orthologs of these genes in Drosophila significantly enhanced their hypoxia tolerance. Taken together, the PreCIOSS algorithm, applied on a large number of genomes, identifies the involvement of both new and previously reported genes in selection sweeps, highlighting the involvement of multiple hypoxia response systems. Since the overwhelming majority of SNPs are in nonexonic (and possibly regulatory) regions, we speculate that adaptation to HA necessitates greater genetic flexibility allowing for transcript variability in response to graded levels of hypoxia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.