EPAS1 Variations and Hematological Adaptations to High-Altitude Hypoxia in Indigenous Goats in Yunnan Province, China

作者：Li Zhu, Lin Tang, Yunong Zhao, Shanshan Li, Xiao Gou, Weidong Deng, Xiaoyan Kong · 发表于：Animals · 年份：2025 · DOI：10.3390/ani15050695 · 被引用次数：8 · 研究领域：Medicine

Simple Summary Tibetan goats, native to high-altitude regions, have developed unique physiological and genetic adaptations to survive under low oxygen conditions. This study investigated the Endothelial PAS Domain Protein1 (EPAS1) gene, a critical regulator of hypoxia response, using blood samples from goats across elevations in Yunnan (500–3500 m). A key polymorphism (g.86650 A>T, p.Gln556Leu) was identified, with its frequency increasing at higher altitudes. This polymorphism was associated with enhanced oxygen transport (e.g., increased red blood cell count and hemoglobin concentration) while maintaining blood flow efficiency by reducing erythrocyte aggregation. Structural modeling confirmed its functional significance in hypoxia adaptation, offering valuable insights into genetic mechanisms underlying high-altitude survival.