Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Brief Bioinform. 2024 Sep 23;25(6). doi: 10.1093/bib/bbae514.
Understanding the functional impact of genetic mutations on protein structures is essential for advancing cancer research and developing targeted therapies. The main challenge lies in accurately mapping these mutations to protein structures and analysing their effects on protein function. To address this, Mut-Map (https://genemutation.org/) is a comprehensive computational pipeline designed to integrate mutation data from the Catalogue Of Somatic Mutations In Cancer database with protein structural data from the Protein Data Bank and AlphaFold models. The pipeline begins by taking a UniProt ID and proceeds through mapping corresponding Protein Data Bank structures, renumbering residues, and assessing disorder percentages. It then overlays mutation data, categorizes mutations based on structural context, and visualizes them using advanced tools like MolStar. This approach allows for a detailed analysis of how mutations may disrupt protein function by affecting key regions such as DNA interfaces, ligand-binding sites, and dimer interactions. To validate the pipeline, a case study on the TP53 gene, a critical tumour suppressor often mutated in cancers, was conducted. The analysis highlighted the most frequent mutations occurring at the DNA-binding interface, providing insights into their potential role in cancer progression. Mut-Map offers a powerful resource for elucidating the structural implications of cancer-associated mutations, paving the way for more targeted therapeutic strategies and advancing our understanding of protein structure-function relationships.
理解基因突变对蛋白质结构的功能影响对于推进癌症研究和开发靶向疗法至关重要。主要的挑战在于准确地将这些突变映射到蛋白质结构上,并分析它们对蛋白质功能的影响。为了解决这个问题,Mut-Map(https://genemutation.org/)是一个全面的计算管道,旨在将来自癌症体细胞突变目录数据库的突变数据与来自蛋白质数据库和 AlphaFold 模型的蛋白质结构数据进行整合。该管道从 UniProt ID 开始,然后进行映射对应的蛋白质数据库结构、重新编号残基,并评估无序百分比。然后,它会叠加突变数据,根据结构上下文对突变进行分类,并使用 MolStar 等高级工具进行可视化。这种方法可以通过分析突变如何影响 DNA 接口、配体结合位点和二聚体相互作用等关键区域来详细了解它们如何破坏蛋白质功能。为了验证该管道,对 TP53 基因进行了案例研究,该基因是癌症中经常发生突变的关键肿瘤抑制基因。分析突出了在 DNA 结合界面发生的最常见突变,为它们在癌症进展中的潜在作用提供了一些见解。Mut-Map 提供了一个强大的资源,用于阐明癌症相关突变的结构影响,为更具针对性的治疗策略铺平了道路,并推进了我们对蛋白质结构-功能关系的理解。