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- Title
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway.
- Authors
Percy, Melanie J.
- Abstract
The article deals with the mutation of HIF-2alpha gene which has been detected in three generations of a family with erythrocytosis and the mutation of co-segregated with the erythrocytosis phenotype. When the von Hippel Lindau (VHL) protein associates with HIFalpha, the latter is sent to the proteosome for degradation. Meanwhile, bioassays of erythrocytosis recombinant protein are performed to discover if the mutation affected the function of HIF-2alpha. The result shows that the Gly537Trp HIF-2alpha protein was more stable than wild type and was able to up-regulate HIF-2alpha target genes.
- Subjects
GENETIC mutation; GENES; POLYCYTHEMIA; ERYTHROCYTES; PHENOTYPES; GENETIC regulation
- Publication
Ulster Medical Journal, 2008, Vol 77, Issue 2, p86
- ISSN
0041-6193
- Publication type
Article