Department of Periodontics, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Human Genetics Research Centre, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Indian J Pharmacol. 2024 May 1;56(3):198-205. doi: 10.4103/ijp.ijp_533_23. Epub 2024 Jul 5.
Single-nucleotide polymorphism (SNP) codes for multiple amino acids, impacting protein functions and disease prognosis. Runt-related transcription factor-2 (RUNX2), a transcription factor linked to osteoblast differentiation, regulates cell proliferation in endothelium and osteoblastic cells. Understanding Runx2's role in nonosseous tissues is rapidly advancing. This study aims to identify harmful SNPs of the RUNX2 gene that may alter disease susceptibility using computational techniques.
The study uses various in silico methods to identify nonsynonymous SNPs (nsSNPs) of the RUNX2 gene, which could potentially alter protein structure and functions, with further analyses by I-Mutant, ConSurf, Netsurf 3.0, GeneMANIA, and Have (y)Our Protein Explained.
Six missense nsSNPs were identified as potentially harmful, disease-causing, and damaging. Four were found to be unstable, while five were conserved. All six nsSNPs had a coiled secondary structure. Five nsSNPs were found to be destabilized.
The RUNX2 gene's deleterious missense nsSNPs were identified by this study, and they may be exploited in future experimental studies. These high-risk nsSNPs might be considered target molecules in therapeutic and diagnostic therapies in teeth and bone development.
单核苷酸多态性（SNP）编码多种氨基酸，影响蛋白质功能和疾病预后。 runt 相关转录因子 2（RUNX2）是一种与成骨细胞分化相关的转录因子，调节内皮细胞和成骨细胞的细胞增殖。了解 RUNX2 在非骨组织中的作用正在迅速发展。本研究旨在使用计算技术鉴定可能改变疾病易感性的 RUNX2 基因有害 SNP。
该研究使用各种计算方法鉴定 RUNX2 基因的非同义 SNP（nsSNP），这些 SNP 可能改变蛋白质结构和功能，并进一步通过 I-Mutant、ConSurf、Netsurf 3.0、GeneMANIA 和 Have（y）Our Protein Explained 进行分析。
鉴定出 6 个可能具有潜在致病性和破坏性的错义 nsSNP。其中 4 个被发现不稳定，而 5 个是保守的。所有 6 个 nsSNP 都具有卷曲的二级结构。其中 5 个 nsSNP 被发现不稳定。
本研究鉴定了 RUNX2 基因的有害错义 nsSNP，它们可能在未来的实验研究中得到利用。这些高风险的 nsSNP 可能被认为是牙齿和骨骼发育治疗和诊断治疗的靶分子。
