In Silico studies of Congenital Adrenal Hyperplasia (CAH), caused by CYP21A2 gene mutation

The Congenital Adrenal Hyperplasia (CAH), comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common from is due to 21-hydroxylase deficiency associated with mutations in the CYP21A2 gene. CAH is the most common cause of the ambiguous genitalia in neonatal girls. In this study, the effect of g.89C> T(P30L), g.655A/C> G(I2G) and g.1683G> T(V281L) mutations in structure and function of CYP21A2 expressed protein analyzed via an in silico approach. NCBI, UniProt, and ExPASY databases were used for access to the nucleotide and protein sequences. Mapviewer tool showed that the CYP21A2 gene encoding 21-OH consist of ten exons which are located on the short arm of chromosome 6 (6p21.3) in the class III region of the major histocompatibility complex (MHC). CD search and Motif scan program was used for detection of active domain and the Cytochrome P450 domain was found. Using the online servers of Psipred and RaptorX along with Mega7 software, some analysis like prediction of secondary and 3D protein structure and drawing of the phylogenetics tree carried out. Phylogenetic tree was designed to examine the evolutionary relationships of the human CYP21A2 gene with other animal species. The information in this study can be useful in developing a method for diagnosis and control of the disease.

Keywords:

CAH , Mutation , Bioinformatics