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A computational report on the variants of ZSCAN4 gene in treating down syndrome

By: Pratichi Singh, Rashi Nagotra, Arthi Venkatesan, J. Febin Prabhu Dass

Key Words: Down syndrome, Mutation, SNP, ZSCAN4 gene.

Int. J. Biosci. 10(4), 41-48, April 2017


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Down syndrome (DS), also known as trisomy 21 is the most commonly known aneuploidy condition. It causes severe problems in human growth, function and its development. Recent reports suggest Zinc finger and SCAN domain containing 4 gene (ZSCAN4) as a new therapy for chromosome abnormalities, hence helps in treating the down syndrome. The expression of ZSCAN4 gene located on chromosome 19 increases the telomere length in human adult cells. This study deals with Insilico approach to find the deleterious SNPs in ZSCAN4 that are linked with this disease condition. Single Nucleotide Polymorphism (SNPs) in ZSCAN4is retrieved to predict the harmful effect in protein using computational tools like SNAP2, PolyPhen 2,I Mutant 2 and SIFT. As a result, two common SNPs are found to be highly deleterious with rs-id377104601 (R151I) and rs-id545052223 (I154T). Further, the structural analysis was performed and the result shows no similarity between the native and mutant protein. Therefore, these reported mutations(R151I and I154T) may alter the function and expression of ZSCAN4 gene and may perhaps not be helpful in treating Down syndrome.

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A computational report on the variants of ZSCAN4 gene in treating down syndrome

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Pratichi Singh, Rashi Nagotra, Arthi Venkatesan, J. Febin Prabhu Dass.
A computational report on the variants of ZSCAN4 gene in treating down syndrome.
Int. J. Biosci. 10(4), 41-48, April 2017
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