What does the EPAS1 gene do?
The EPAS1 gene, often known as HIF2A, provides instructions for making a protein called hypoxia-inducible factor 2-alpha (HIF-2α). This protein is one part (subunit) of a larger protein complex called HIF, which plays a critical role in the body’s ability to adapt to changing oxygen levels.
Who has the EPAS1 gene?
The team also compared the full EPAS1 gene between populations around the world and confirmed that the Tibetans’ inherited the entire gene from Denisovans in the past 40,000 years or so—or from an even earlier ancestor that carried that DNA and passed it on to both Denisovans and modern humans.
What is EPAS1 and why do Tibetans need EPAS1?
A high percentage of Tibetans carry an allele of EPAS1 that improves oxygen transport. The beneficial allele is also found in the extinct Denisovan genome, suggesting that it arose in them and entered the modern human population through hybridization.
How did EPAS1 become widespread?
The unusual variant common among Tibetans probably spread through natural selection after their ancestors moved onto the high-altitude plateau in Asia several thousand years ago. The Tibetan variant of EPAS1 was discovered by Prof Nielsen’s team in 2010.
What is EPAS1 and what is its role in the circulatory system?
Endothelial PAS domain protein 1 (EPAS1) is a hypoxia-inducible transcription factor and plays an important role in the catecholamine and mitochondrial homeostasis, in the control of cardiac output and erythropoietin regulation.
Is EPAS1 dominant or recessive?
Clinical Information
| Gene | Inheritance | p50 |
|---|---|---|
| Beta Globin | Dominant | Decreased |
| Alpha Globin | Dominant | Decreased |
| HIF2A/EPAS1 | Dominant | Normal |
| VHL | Recessive | Normal |
What is the super athlete gene?
The genetic link Studies have found that most elite power athletes have a specific genetic variant in a gene related to muscle composition called the ACTN3 gene. This variant causes muscle cells to produce alpha-actinin-3, a protein found in fast-twitch muscle fibers.
Do Tibetans have more hemoglobin?
Blood hemoglobin concentration is lower in Tibetans than in lowlanders or Andeans living at similar altitudes. Tibetans develop only minimal hypoxic pulmonary hypertension and have higher levels of exhaled nitric oxide than lowlanders or Andeans.
What was the origin of the EPAS 1 allele found in many modern Tibetans?
Our work supports the two-pulse Denisovan admixture model proposed by Browning et al., and our analysis suggests that the beneficial haplotype of EPAS1 in Tibetans originated from the East Asian-specific Denisovan introgression, involving a Denisovan group that is more closely related to the Altai Denisovan individual …
How common is the elite athlete gene?
That study also found about a 40 percent prevalence of the CC genotype among elite power athletes. The AGT gene is part of the renin-angiotensin system, which plays essential roles in regulating blood pressure, body salt, and fluid balance.
Does everyone have the sprinter gene?
All world-class sprinters either have the complete gene or carry the gene. A study partnered with the Australian Institute of Sport to investigate ACTN3 genotype frequencies in elite athletes.
Do Tibetans have better lungs?
Tibetans have greater hypoxic and hypercapnic ventilatory responsiveness, larger lungs, better lung function, and greater lung diffusing capacity than lowlanders. Blood hemoglobin concentration is lower in Tibetans than in lowlanders or Andeans living at similar altitudes.
Is the EPAS1 gene active in hypoxic conditions?
It is a type of hypoxia-inducible factor, a group of transcription factors involved in the physiological response to oxygen concentration. The gene is active under hypoxic conditions.
How is EPAS1 related to high altitude adaptation?
Mutation often leads to neuroendocrine tumors. However, several characterized alleles of EPAS1 contribute to high-altitude adaptation in humans. One such allele, which has been inherited from Denisovan archaic hominins, is known to confer increased athletic performance in some people, and has therefore been referred to as the “super athlete gene”.
What kind of tumors are caused by mutations in EPAS1?
Mutations in EPAS1 gene are related to early onset of neuroendocrine tumors such as paragangliomas, somatostatinomas and/or pheochromocytomas.
What kind of Endothelial PAS is EPAS1?
View/Edit Mouse. Endothelial PAS domain-containing protein 1 (EPAS1, also known as hypoxia-inducible factor-2alpha (HIF-2alpha)) is a protein that is encoded by the EPAS1 gene in humans. It is a type of hypoxia-inducible factor, a group of transcription factors involved in the physiological response to oxygen concentration.