A genetic mutation in the EPAS1 gene helps Indigenous Quechua people in the Peruvian Andes and Tibetan highlanders thrive at high altitudes. The mutation lowers the amount of hemoglobin in the blood, which is the body’s key oxygen-carrying molecule. This mutation also allows the Quechua people and Tibetan highlanders to maintain lower red blood cell levels. This prevents chronic mountain sickness and improves their ability to be physically active at high altitudes.
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A genetic mutation in the EPAS1 gene helps Indigenous Quechua people in the Peruvian Andes and Tibetan highlanders thrive at high altitudes.
The EPAS1 gene encodes a protein called Endothelial PAS domain-containing protein 1. This protein is a type of hypoxia-inducible factor, which is a group of transcription factors that respond to oxygen concentration. The EPAS1 gene is active in hypoxic conditions and is also important for heart development and catecholamine balance.
The mutation in the EPAS1 gene lowers the amount of hemoglobin in the blood. Hemoglobin is the body’s main molecule for carrying oxygen.
The Tibetan-specific EPAS1 variations regulate the physiological responses to high-altitude hypoxia. These variations maintain the hemoglobin levels of Tibetan highlanders at near-sea-level values.
Some Andeans have a different version of EPAS1 that is similar to the Tibetan variant. This version is associated with low hemoglobin and higher oxygen saturation.
One allele of EPAS1 is known as the “super athlete gene”. This allele is inherited from Denisovan archaic hominins and is known to improve athletic performance in some people.
In a new study published Friday (Feb. 9) in the journal Science Advances, researchers identified a genetic mutation in the gene EPAS1 in a group of Indigenous Quechua people in the Peruvian Andes. The mutation lowers the amount of hemoglobin — the body’s key oxygen-carrying molecule — in the blood
A mutation in hemoglobin can cause the oxygen-carrying protein in red blood cells to stick together. This can lead to sickle-shaped red blood cells, which can cause:
Blood cell rupture, Anemia, Recurring pain, Immunodeficiency, Organ damage, Early death.
Anemia is a condition where the amount of hemoglobin in the blood is decreased. In males, anemia is generally defined as less than 13.5 g/dL of hemoglobin, and in females, it’s less than 12.5 g/dL.
People with low hemoglobin levels may appear pale because hemoglobin gives red blood cells and blood their red color
Yes, the EPAS1 gene encodes a protein called Endothelial PAS domain-containing protein 1.
The EPAS1 gene is also known as HIF2A and encodes a protein called hypoxia-inducible factor 2-alpha (HIF-2α). HIF-2α is a subunit of a larger protein complex called HIF, which helps the body adapt to changing oxygen levels.
The EPAS1 gene is active under hypoxic conditions and is important for heart development and maintaining catecholamine balance. Mutations in the EPAS1 gene often lead to neuroendocrine tumors.
Some alleles of EPAS1 contribute to high-altitude adaptation in humans. One such allele, inherited from Denisovan archaic hominins, is known as the “super athlete gene” because it can improve athletic performance in some people.
The EPAS1 gene is a transcription factor that helps control the expression of other genes. It’s a key part of the Hypoxia Inducible Factor (HIF) pathway in blood, which activates gene expression in response to hypoxia
EPAS1 helps Tibetans survive and reproduce at high altitudes. It increases the ability of red blood cells to carry oxygen, even in low oxygen environments. This allows Tibetans to breathe more easily and perform better at high altitudes.
EPAS1 also regulates the body’s production of hemoglobin. A mutation in EPAS1 reduces hemoglobin in the blood, which makes it easier to pump oxygen around the body
Examination of Denisovan-like DNA in modern humans revealed a number of candidate genes with robust signatures of adaptive introgression (16–21), among which the most well-known example is found in the Endothelial Pas Domain Protein 1 gene (EPAS1) in modern Tibetans (22–24) that facilitated local adaptation to their …
According to National Geographic, 9% of Han Chinese have the EPAS1 mutation, compared to 87% of Tibetans. This is considered the strongest example of natural selection in human populations.
The EPAS1 gene is only common in Tibetan populations because it gives them a competitive advantage at high altitudes. People with the EPAS1 gene have more red blood cells, which can carry more oxygen. This allows them to breathe more easily and perform better at high altitudes.
The EPAS1 gene is also found in Sherpas, who share genetic variations with Tibetans for high-altitude adaptation
The EPAS1 gene helps the body adapt to low oxygen conditions by producing more hemoglobin. Hemoglobin is a protein in red blood cells that transports oxygen around the body.
The EPAS1 gene also activates genes involved in erythropoiesis and angiogenesis. This helps deliver oxygen to tissues and may influence athletic performance.
The EPAS1 gene also up-regulates numerous hypoxia-inducible genes, including EPO, in the lung and other tissues experiencing hypoxia. This happens even during embryonic development.
The EPAS1 allele is known to confer an adaptive advantage to animals living at high altitudes. The Himalayan wolf and the Tibetan mastiff have inherited an altitude-adaptive allele of the gene
The Denisovans contributed the EPAS1 gene to the Tibetan population. The Denisovan EPAS1 haplotype was introduced to ancestral Tibetans through Denisovan introgression more than 48,000 years ago. The Tibetan EPAS1 is almost identical to the Denisovan version.
The EPAS1 gene is found in both Tibetan and Chinese populations, but at different frequencies. It is found at high frequencies among Tibetans and at low frequencies among nearby low-dwelling Chinese populations
According to a 2011 study, the EPAS1 gene has undergone strong Darwinian positive selection in Tibetans. This has led to the enrichment of adaptive sequence variants in Tibetans.
The EGLN1 gene also shows evidence of positive selection in both Tibetans and Andeans. However, the pattern of variation for this gene differs between the two populations.
The PTPN1 gene is also under strong positive selection and has high divergence at a genetic level between Tibetan and lowland locusts
The EPAS1 gene is the most likely gene version to be adaptive for Tibetans. This gene helps produce hemoglobin, a protein that carries oxygen in the blood. The EPAS1 gene also helps control cell division and the production of new red blood cells and blood vessels.
The EPAS1 gene is found in higher frequencies in Tibetans than in Han Chinese, who live in the lowlands of Mount Everest. Scientists believe that the EPAS1 gene became more prevalent in the Tibetan population through natural selection. This is because individuals with the gene were better able to survive and reproduce in the high-altitude environment
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