Identification and Alignment of Human and Mouse SNPs in the DMD Gene using a Bioinfomatical Approach

Abstract

Muscular dystrophy (MD) is a fatal, muscle wasting disease affecting individuals who have acquired a mutation in their dystrophin (DMD) gene. Some of these mutations are a single nucleotide alteration. Dystrophin is a vital part of a protein complex in skeletal and cardiac muscle tissue. The gene is the largest in the human genome, spanning 79 exons on the X chromosome. MD is X linked dominant, targeting mostly males that are affected by the one of the two most common forms, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Both DMD and BMD result from single nucleotide polymorphisms (SNPs). To date, there is no cure for the disease.  Of the identified SNP mutations, the phenotype for many has not yet been characterized. To this end, identifying conserved regions between humans and mice would allow for further characterization of these SNPs, as dystrophinin in mice is functionally analogous. Therefore, I hypothesize that some of the human SNPs in DMD are conserved in mouse DMD. Using a bioinformatical approach, I collected various SNP mutations, and using Ensemble, I then aligned the genes. Of the exons examined, 212 SNPs were identified, 17 of which were on exon 57. Furthermore, many of the human SNPs align with mouse DMD gene SNPs. This study will allow for further characterization of the DMD SNPs, as well as serve as a platform for future in vivo studies, opening opportunities to possible gene therapies for individuals with muscular dystrophy.