A5041371290- High Altitude and Hypoxia
- Adipose Tissue and Metabolism
- Cancer, Hypoxia, and Metabolism
- Neuroscience of respiration and sleep
- Genetic Associations and Epidemiology
- Metabolomics and Mass Spectrometry Studies
- Rangeland Management and Livestock Ecology
- Yersinia bacterium, plague, ectoparasites research
- Animal Diversity and Health Studies
- Genetics and Physical Performance
- Cancer-related molecular mechanisms research
Royal College of Surgeons in Ireland
2014-2024
The indigenous people of the Tibetan Plateau have been subject much recent interest because their unique genetic adaptations to high altitude. Recent studies demonstrated that EPAS1 haplotype is involved in altitude-adaptation and originated an archaic Denisovan-related population. We sequenced whole-genomes 27 Tibetans conducted analyses infer a detailed history demography natural selection this detected evidence population structure between ancestral Han subpopulations as early 44 58...
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 with relatively lower hemoglobin concentration Tibetans. We provide evidence for an association between adaptive variant (rs570553380) the same phenotype low hematocrit Andean highlanders. This Andean-specific missense present at modest frequency Andeans absent other populations vertebrate species except coelacanth....
We set out to describe the fine-scale population structure across Eastern region of Nepal. To date there is relatively little known about genetic Sherpa residing in Nepal and their relationship with Nepalese. assembled dense genotype data from a total 1245 individuals representing variety different populations resident greater Himalayan including Tibet, China, India, Pakistan, Kazakhstan, Uzbekistan, Tajikistan Kirghizstan. performed analysis principal components, admixture homozygosity.We...
Abstract EGLN1 encodes the hypoxia‐inducible factor (HIF) pathway prolyl hydroxylase 2 (PHD2) that serves as an oxygen‐sensitive regulator of HIF activity. The locus exhibits a signature positive selection in Tibetan and Andean populations is associated with hemoglobin concentration Tibetans. Recent reports provide evidence for functional roles protein‐coding variants within first exon (rs186996510, rs12097901) are linked to adaptive signal Tibetans, yet whether these same present contribute...