Computational Analysis of Functional Coding/Noncoding Single Nucleotide Polymorphisms (SNPs/Indels) in Human NEUROG1 gene
Shimaa M. Mahalah* , Zhoor A. A Hamid . Samah M Ibrahim. Shahazalia k babiker
Faculty of medicine, Sudan University of Science and Technology (Sudan).
Faculty of pharmacy, Al-Neelain University (Sudan).
Faculty of medical laboratory, University of medical sciences and Technology (Sudan).
Faculty of medical laboratory ,University of medical sciences and technology (Sudan).
*Corresponding author: Shimaa.firstname.lastname@example.org
Human NEUROG1 gene encodes the protein neurogenin1 that has been demonstrated to have an essential role as a transcription factor in the process of neurogenesis and neuron repair. Mutations in this gene have been linked to many congenital diseases and to CNS diseases in adulthood. This study used bioinformatics tools to evaluate the effect of mutations along the sequence of the gene. Genomic data has been retrieved from databases in NCBI, GenBank and Ensembl; 617 SNPs and INDels were reported in the dbSNP spanning the coding and noncoding regions. There were 193 SNPs found in the coding region and only four of them have been predicted as deleterious. Modeling of the three-dimensional structure of NEUROG1 was generated through I-TASSER program and validated by different software. Analysis of 3’ UTR region showed that eight SNPs were found to have an effect on microRNA binding sites either by creating or disturbing them, and another three INDels were not observed to have any effect. This study is a proposed computational analysis for the possible effect of reported nonsynonymous SNPs on the functionality of NEUROG1 gene, and subsequently its protein, as an important cofactor in neuron formation. This gene has been suggested as a candidate for gene therapy at genetics and epigenetics levels and/or drug design of neurodevelopmental and neurodegenerative diseases.
Key words: Computational analysis, NEUROG1, Single Nucleotide Polymorphisms (SNPs), neurogenesis, gene therapy.