RNA-RBP Interaction and their Probable Function in the Microdeletion Region 15q11.2 Bp1-Bp2

Abstract

The Burnside-Butler syndrome is a genetic condition which is linked to various disabilities like communication skills, movement disabilities, along with conduct and emotional issues due to microdeletion in BP1-BP2 region of chromosome 15q11.2. There are four protein coding genes CYFIP1, NIPA1, TUBGCP5 and NIPA2 in this region. This research is mainly focused on the interaction between mRNAs and RNA-binding proteins (RBPs) in this region which might give us an insight into the cause of such phenotypes. In this study the RBPs binding with the mRNAs of the genes in this region are revealed by intersection of the eCLIP data downloaded from ENCORE with the genomic positions of the four genes situated in this region. Significant RBPs binding to each gene were filtered by according to the p-values and fold enrichment. Further the binding of top RBP binders FASTKD2 and EFTUD2 with CYFIP1 and TUBGCP5 was validated using WEMSA experiment. The RBPs in this area are mainly found to be involved in regulating the gene expression of the particular genes. This work may help to comprehend the complex connections between mRNA and RBPs in microdeletion region which might further be helpful in developing advanced therapeutics.