Authors: Denis Semyonov
Comments: 3 Pages.
In human gene JAK2 the fragment with regulatory structure GTATGTGT is repeated more than 10 times. The mutation V617F (G→T) in this site belonging to an 14 exon, is associated with so called myeloproliferative diseases. E.g., if the mutation leads to violation of the purine-pyrimidine alternation, the respective site loses the ability of the rearrangement and becomes non-regulatory. Thus, contribution of the mutation to oncogenesis can relate to a disturbance of the mechanism of regulation of the gene expression.