Analysis of polymorphism and function of GA repeat in RIT2 gene promoterAnalysis of polymorphism and function of GA repeat in RIT2 gene promoter in Parkinson’s disease

Regulation of gene expression is performed by the promoter sequence resided upstream of genes. There are a group of class II gene promoters which lack any consensus sequences and bioinformatics studies have revealed that the frequency of exceptionally long repeats in these promoters are significantly more than other promoters. One of such promoters is the RIT2 gene promoter which includes an 11 GA repeat and its role in neurologic disorders such as Parkinson’s disease is the aim of this investigation. 

In this case control study we investigated the polymorphism of the GA repeat in 500 PD samples and 500 healthy controls, and also the role of the repeat sequence on gene expression using cloning technique.

We found that the GA repeat of the RIT2 gene shows monomorphism in human population. In expression study, we observed two fold expression level of luciferase in the presence of the GA repeat compared to its absence. 

Due to the important effect of the GA repeat in the RIT2 gene promoter and the important role of RIT2 gene in neuronal development, any alterations in repeat sequence is intolerable for cells and there is a strong conservation for this repeat.