研究PTEN和P53在自闭症中的作用:突变信息预测系统(MIPS)的设计

S. Jacob, Bensujin Bennet, M. Sulaiman
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引用次数: 0

摘要

P53是一种由人类TP53基因编码的肿瘤抑制蛋白。某些基因突变抑制P53的正常功能,引起肿瘤和细胞生长退化,导致几种器官疾病。研究表明,PTEN错构瘤肿瘤综合征(PHTS)是种系PTEN突变的阴性结果,与器官特异性癌症和自闭症谱系障碍(ASD)有关。近年来,PTEN的缺乏也被发现在改变P53表达中发挥作用,从而引发/推进自闭症特征。应用数据挖掘和监督机器学习技术来精确和早期识别这些突变是计算机科学、医疗保健和生物信息学领域的一项具有挑战性的任务。我们提出了一种突变预测系统的新设计,通过配置突变位点,可以根据肿瘤蛋白TP53的活性/非活性状态从继发性dna结合突变记录中检测遗传标记。该突变信息预测系统基于对P53蛋白在不同结合位点的每个突变提取的贝叶斯概率。然后,我们利用随机森林算法生成的规则来制定突变信息预测系统(MIPS)来预测P53突变位点的类别。我们相信,该系统将有助于进一步研究P53在引起/检测自闭症中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Investigating the Role of PTEN and P53 in Autism: Design of A Mutant Information Prediction System (MIPS)
P53 is a tumor suppressor protein that is encoded by the TP53 gene in humans. Certain genetic mutations suppress the normal functioning of P53, causing tumors, and degenerate cell growth, leading to several organ disorders. Research states that PTEN hamartoma tumor syndrome (PHTS), a negative outcome of the germline PTEN mutations, is linked with organ-specific cancers and autism spectrum disorders (ASD). In recent years, deficiency of PTEN has also been found to play a role in altering P53 expressions that triggers/advances autism traits. Application of data mining and supervised machine learning techniques for the precise and early identification of such mutations is one of the challenging tasks in the field of computer science, health care and bioinformatics. We present a novel design of a mutant prediction system by configuring the mutation sites that enable detection of genetic markers from secondary DNA-binding mutation records based on the active/inactive state of the Tumor Protein TP53. This mutant information prediction system is based on the Bayesian probabilities extracted for each mutation of the P53 protein at the different binding sites. We then utilize the rules generated by the Random Forest algorithm to formulate a Mutant Information Predictor System (MIPS) to predict the class of P53 mutant sites. We believe that this system would enable further research in investigating the role of P53 in causing/detecting autism.
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