TSitologiya i Genetika 2022, vol. 56, no. 1, 83-85
Cytology and Genetics , vol. , no. , , doi: https://www.doi.org/

Investigation of putative functional SNPs of human HAT1 protein: A comprehensive in silico study

Avsar O.

  • Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Hitit University, Corum, 19030, Turkey

Histone modifications such as acetylation play a fundamental role in DNA packaging and genome regulation and HAT1 protein is involved in gene transcription, DNA repair, and chromatin assembly. Single nucleotide polymorphisms (SNPs) in the human HAT1 gene may be correlated with human diseases such as cancers, inflammatory, and neuropsychiatric diseases. Hence, identification of putative functional SNPs which affect structure and/or function of protein is important for understanding the molecular mechanisms of pathogenesis of diseases and discovery of potential therapeutic agents. In this study, numerous bioinformatics tools were used to determine the most damaging nsSNPs for the function and/or structure of HAT1 protein. In silico analysis was carried out by different algorithmic programs including SIFT, PolyPhen­2, PROVEAN, SNPs&GO, and PhD­SNP. Our study concludes that mutation of Leucine → Arginine at position 416 (rs199575205) is major deleterious mutation which may lead to damage of HAT1 protein. Analyis of HAT1 gene variants by computational tools is a first and comprehensive in silico study. Future in vitro and in vivo studies should include this nsSNP as main target for the development of therapeutics for diseases that are associated with this missense polymorphism.

Keywords: HAT1, nsSNP, mutation, in silico, histone

TSitologiya i Genetika
2022, vol. 56, no. 1, 83-85

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