Investigation of the pathogenicity of one of the missense single nucleotide polymorphism in IKZF۱ gene

Backgrounds: IKZF۱ (IKAROS Family Zinc Finger Protein ۱) is a gene that encodes the Ikarostranscription factor. The most expression of this gene is in the lymph node, spleen, appendix, andbone marrow. Ikaros is a multifunctional transcription factor that has many effects in differentdimensions of the cell cycle, lymphopoiesis, hematopoietic stem cells (HSCs) and plays as anessential regulator of lymphoid development and differentiation. In some references, Ikarosconsider as an antileukemic transcription factor so we can say that effective mutation andabnormality in the Ikaros gene (IKZF۱) probably can lead to different types of leukemia (e.g. Bcell-progenitor acute lymphoblastic leukemia).In this study, we check one single nucleotidepolymorphism (SNP) that is identified as missense change in the National center forbiotechnology information (NCBI) on the SNP database.Materials and Methods: We search in NCBI/SNP database and found ۳۶۳۲۵ SNP in differentparts of IKZF۱. After that, we filter the result and we find ۴۵۵ SNP that was missense. Betweenthese ۴۵۵ SNP, we discuss only one of them (rs۷۵۷۹۰۷۷۱۷ C >T) and check its effect on thefinal protein product.Results: We search in NCBI/SNP database and found ۳۶۳۲۵ SNP in different parts of IKZF۱.After that, we filter the result and we find ۴۵۵ SNP that was missense. Between these ۴۵۵ SNP,we discuss only one of them (rs۷۵۷۹۰۷۷۱۷ C >T) and check its effect on the final proteinproduct.Conclusion: According to the results obtained, we can propose with high probability, thatrs۷۵۷۹۰۷۷۱۷ is a probably damaging and pathogenic SNP.

کلیدواژه ها:

IKZF۱ ، Ikaros ، DNA-binding protein ، SNP ، Computational biology