Rufida Omer posteradmin
INSILICO ANALYSIS OF SINGLE NUCLEUOTIDE POLYMORPHISM IN HUMAN
DCDC2 GENE CAUSING DYSLEXIA DISEASE
Rufaida, O. S. Omer1*; Afra, M. Bakri1; Muna, A. M. Khaier2; Hind. A. Elnasri1
1-Department of Biochemistry and Molecular Biology, College of Veterinary Medicine, University of Bahri
2- Department of Parasitology, College of Veterinary Medicine, University of Bahri
Dobulecortin domain2 gene (DCDC2) which encodes for the doublecortin protein is located in chromosome 6p22.3. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Variants of the DCDC2 gene may affect the protein conformation and structure which might lead to learning disability (Dyslexia disease). The aim of this study was to analyze the genetic variation that can alter the expression and the function in DCDC2 gene using computational tools.
This study focused on the coding region. The total number of SNPs was obtained from dbSNP database. A total of 22 SNPs were found to be damaging by both SIFT and PolyPhen software.When using I-Mutant 3.0 software, 20 nsSNPs showed decreased protein stability while only 2 SNPs showed increase in protein stability. This gene was found to co-expressed with 14 other genes and has a physical interaction with 1 gene using GeneMANIA software. A structural and functional analysis of ns SNPs was also studied by Project HOPE and Mupro software. Based on this work, four new ns SNPs are predicted to have pathological effect. Thus the most deleterious ns SNPs with an SNP IDs (rs375996594) was proposed as the most important one. The others (rs372751993), – (rs36881196) and – (rs141060456) may also play an important role in investigation of dyslexia disease among patients.
Keywords: DCDC2, Dyslexia, Insilico Analysis, Reading Disability, Single Nucleotide Polymorphism (SNP)