Computational Analysis of Functional Coding/Noncoding Single Nucleotide Polymorphisms (SNPs/Indels) in Human NEUROG1 gene

Abstract

Human NEUROG1 gene encodes a very important protein Neurogenin1, which has been demonstrated to have an essential role as a transcription factor in the process of neurogenesis and neural repair. Mutations in NEUROG1 gene have been linked to many congenital diseases and some neurodegenerative diseases. This study used bioinformatics tools to evaluate the effects of mutations along the sequence of the gene. The 3D structural modeling of NEUROG1 was generated through I-TASSER and validated by different software. Genomic data has been retrieved from NCBI, GenBank, and Ensembl databases. Of the 617 SNPs and INDels reported in the dbSNP spanning coding and noncoding regions, only 4 of the 193 SNPs affecting coding regions were predicted to be deleterious with bioinformatics software. Analysis of 3' UTR (3ʹ-untranslated regions) revealed that eight SNPs were found to affect microRNA binding sites either by creating or disturbing them, and other three INDels had no effect This study is a proposed computational analysis for the possible effects of Non- synonymous SNPs on the functionality of NEUROG1 gene and subsequently its protein as an important cofactor in new neurons formation. The results suggested that, NEUROG1 gene can serve as a candidate for gene therapy at genetics and epigenetics levels and/or drug design for neurodegenerative and other neurological diseases.