Transcriptome analysis of a novel developmental disorder using in silico tools

Abstract

The human genome contains several fragile sites. Some fragile sites have a distinct function, but for others the function is not yet known. FRA10AC1 is a rare folate-sensitive site gene coding for a nuclear protein of unknown function. FRA10AC1 is located on chromosome 10, associated with CGG expansion repeats, which can be unstable during replication and modified by epigenetic marks. The instability of the gene region can eventually affect gene activity and produce some observed phenotypes. Some papers indicated that FRA10AC1 is associated with the splicing complex/process, but this has not been experimentally proven. There are some important genes in development, such as HOX genes, and the knockout of FRA10AC1 highly dysregulates HOX genes. Furthermore, there are some important genes in transcription regulation, which is located on chromosome 10 and closed to FRA10AC1, such as TET1, which is dysregulated with FRA10AC1 knockout. Additionally, the two genes MECP2 and HNRNPR are known in transcription regulation and can be modulated by epigenetic factors such as DNA methylation and histone modifications. These genes are an example of the epigenetic effects on these genes. This is an attempt to resolve the enigmatic functional role of FRA10AC1 gene and its association with developmental disorders.