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?
Now, an international team of researchers has sequenced the EPAS1 gene in 40 Tibetans and 40 Han Chinese. Both were once part of the same population that split into two groups sometime between 2750 to 5500 years ago.
What is HIF 2a?
64 In contrast, HIF- 2a promotes cell cycle progression by enhancing c-Myc- mediated expression of cyclin D2 and E2F1 in multiple cell types. 65 HIF-2a also enhances c-Myc- and Ras-induced transformation of primary fibroblasts.
What is EPAS1 and why do Tibetans need EPAS1?
Tibetans suffer no health problems associated with altitude sickness, but instead produce low levels of blood pigment (haemoglobin) sufficient for less oxygen, more elaborate blood vessels, have lower infant mortality, and are heavier at birth. EPAS1 is useful in high altitudes as a short term adaptive response.
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?
Introduction. ACTN3 is a gene that encodes for alpha-actinin-3, a protein expressed only in type-II muscle fibers (North et al., 1999). A common polymorphism in this gene is R577X (rs1815739), where a C-to-T base substitution results in the transformation of an arginine base (R) to a premature stop codon (X).
What is the hypoxia response element?
Hypoxia response element (HRE) sequence is recognized by hypoxia-inducible factor (HIF), which is the main transcription factor recruited in hypoxia. Oligonucleotide sequences corresponding to HRE (H) and DTS (S) were inserted into the uP-VEGF plasmid to generate uPS-VEGF, uPH-VEGF and uPHS-VEGF.
How did Tibetans get EPAS1?
Now, an international team of researchers has sequenced the EPAS1 gene in 40 Tibetans and 40 Han Chinese. Using computer modeling, Nielsen and his team found the only plausible explanation was that the ancestors of Tibetans and Han Chinese got the gene by mating with Denisovans.
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.
Which gene version is most likely to be adaptive for Tibetans living at high altitudes?
One of these adaptations is almost exactly the opposite of a lowlander’s response to high altitude: Tibetans have gene versions that cause them to produce fewer red blood cells….Some People Didn’t Just Acclimate, They Evolved.
| Group | Average [Hb] (g/dL) at high elevation | Average [Hb] (g/dL) at sea level |
|---|---|---|
| Tibetans | 15.8 | 15.6 |
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.
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.
Why is EPAS1 important to the development of the heart?
The gene is active under hypoxic conditions. It is also important in the development of the heart, and for maintaining the catecholamine balance required for protection of the heart. Mutation often leads to neuroendocrine tumors. However, several characterized alleles of EPAS1 contribute to high-altitude adaptation in humans.
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.