Wuhan, China — On September 12th, Prof. Miao Xiaoping, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, published an article entitled “AWESOME: A database of SNPs that affect protein post-translational modifications” on Nucleic Acids Research. This study systematically evaluates the role of SNPs on nearly all kinds of PTMs based on 20 available tools, and established a database named AWESOME (A Website Exhibits SNP On Modification Event.
The complex diversity of human genetic variation contributes to individual differences and susceptibility to diseases. Researchers have long sought to discover genetic variants with potential functions to support the interpretation of the disease etiology and identification of therapeutic targets. However, at present, the functional interpretation of genetic variants is mostly concentrated on the regulatory region. For the genetic variation in coding regions, the research is still not perfect. Protein post-translational modifications play an important role in living organisms. It makes the structure of proteins more complex, the function of proteins more comprehensive, the regulation of proteins more precise, and the effect of proteins more specific. Genetic variants in the coding regions cause amino acid changes in the protein encoded by the gene, thereby may affect the post-translational modification of the protein, and thus influence the function of the protein and even the activation of downstream signaling pathways. For now, there is still no systematic research for such genetic variants with important functions.
Professor Xiaoping Miao's group took the lead in carrying out research work in this area. This study used 20 bioinformatics prediction tools to comprehensively predict genetic variants that may affect the six most common post-translational modifications, and systematically integrated and scored the prediction results based on the performance of different tools. the most reliable prediction. The study then used four authoritative databases based on experimentally verified protein post-translational modifications, to annotate all known types of modifications for all genetic variants. Finally, the study analyzed these functional genetic variants and found that they had a significant enrichment in cancer-related region, that confirmed the idea that SNPs affect protein post-translational modifications is related to tumorigenesis.
This study provides a new method for interpreting the function of genetic variants in the coding regions, and a new idea for identifying the susceptibility of complex diseases including cancers. Professor Xiaoping Miao and Jiang Chang of the School of Public Health, Tongji Medical College, Huazhong University of Science and Technology were the co-corresponding authors of this paper. The Ph.D. candidate Yang Yang is the first author of the paper. The work was supported by the National Key Research and Development Plan Program, National Natural Science Foundation of China, National Program for Support of Top-notch Young Professionals, and the Youth Innovation Team Project of Huazhong University of Science and Technology.
Chinese News Link: http://gwxy.tjmu.edu.cn/info/1067/2376.htm
For more details of the paper, please visit: https://academic.oup.com/nar/article/47/D1/D874/5095456
