EPAS1Endothelial PAS (Per Arnt Sim) 1 (protein)
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The EPAS1 variant helps Tibetans cope with constant oxygen deprivation, an extreme stress on the body, especially during pregnancy.
The researchers analyzed a stretch of DNA surrounding EPAS1 that is 32,700 DNA letters long from 40 Tibetans and 40 Han Chinese, who are Tibetans' close genetic relatives.
Computer simulations of scenarios under which the two groups could share DNA indicated that the most likely explanation for the similarity is that Tibetans inherited the chunk of DNA containing the SNPs or EPAS1 variant from Denisovans.
Other researchers agree that Nielsen's group presents convincing evidence that the high-altitude version of EPAS1 came from Denisovans or a related extinct group.
In this study, researchers have re-sequenced the region around EPAS1 in 40 Tibetan and 40 Han individuals, and found this gene in Tibetans harbored a highly differentiated haplotype, which was only observed in Denisovan genome but not in the populations from worldwide, except for a single Southern Han Chinese and a single Beijing Han Chinese individual.
Early preclinical studies indicate that the EPAS1 gene can activate expression of other genes involved in the process of blood vessel development (angiogenesis) and may enhance cardiac output.
EPAS1 encodes hypoxia-inducible factor 2-alpha (HIF2a), an important angiogenic factor whose high expression in CRC has been shown to play an important role in tumor progression and to possess prognostic value (16).
05) increase of KIAA0101, UBE2D3, and EPAS1 in the plasma of CRC patients compared to healthy individuals (Fig.
Importantly, EPAS1 and UBE2D3 were significantly decreased in the postsurgery samples compared to the presurgery samples from the same patients (Table 1 and Supplementary Fig.
Support vector machine (SVM) analysis with leave-one-out cross-validation of this training set using the 3 validated genes UBE2D3, EPAS1, and KIAA0101, showed that they enabled classification of up to 71% of the training samples correctly (52 of 73 samples) (see Fig.
When we shared our findings we suddenly realized that both sets of studies pointed to the same gene - EPAS1," said Robbins, who co-organized the meeting with Beall.
While all humans have the EPAS1 gene, Tibetans carry a special version of the gene.