Computational Characterization of the Promoter Region of SMN2 (Survival of Motor Neuron) Gene

Abstract

SMN (Survival of Motor Neuron) has two isotypes; SMN1 and SMN2 encoding for FL-SMN protein (functional SMN) and ?7SMN protein (non functional). The lack of SMN1 produce spinal muscular atrophy (SMA) and the increasing gene dosage of SMN2 have been shown to decrease the severity of the SMA. The core promoter region of the SMN genes is still not identified but previous literature have shown these genes to be regulated by a 4.6 kb region up stream of the transcription start site (TSS). There was a need of computational analysis of this region as the presence of important features can help to develop a strategy for gene therapy against spinal muscular atrophy (SMA). In this analysis, the open reading frames, Pribnow box sequences, restriction sites and the transcriptional factor binding sites were identified. Important restriction sites were determined with in 15 open reading frames. Total of 15 ORFs and 24 nested ORFs were determined with 7 and 11 ORFs on the complementary strand. These ORFs contained 15 TATA box sequences reflecting the diverse function integrity of SMN promoter region. The whole data was used for the prediction of the promoter region of the SMN. Up to the best of our knowledge this is the first reported study in the literature reflecting the computational analysis of the ~4.6 kb expected promoter region of the SMN genes towards analyzing the core promoter region of the SMN genes in the future studies.