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RASopathies: Presentation at the Genome, Interactome, and Phenome Levels

机译：RASopathies：在基因组，交互组和现象水平上的演示

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Clinical symptoms often reflect molecular correlations between mutated proteins. Alignment between interactome and phenome levels reveals new disease genes and connections between previously unrelated diseases. Despite a great potential for novel discoveries, this approach is still rarely used in genomics. In the present study, we analyzed the data of 6 syndromes belonging to the RASopathy class of disorders (RASopathies) and presented them as a model to study associations between genome, interactome, and phenome levels. Causative genes and clinical symptoms were collected from OMIM and NCBI GeneReviews databases for 6 syndromes: Noonan, Noonan syndrome with multiple lentigines, neurofibromatosis type 1, cardiofaciocutaneous, and Legius and Costello syndrome. The STRING tool was used for the identification of protein interactions. Six RASopathy syndromes were found to be associated with 12 causative genes. We constructed an interactome of RASopathy proteins and their neighbors and developed a database of 328 clinical symptoms. The collected data was presented at genome, interactome, and phenome levels and as an integrated network of all 3 data types. The present study provides a baseline for future studies of associations between interactome and phenome in RASopathies and could serve as a novel approach to analyze phenotypically and genetically related diseases.
机译：临床症状通常反映突变蛋白之间的分子相关性。相互作用组和表型水平之间的比对揭示了新的疾病基因以及以前不相关的疾病之间的联系。尽管有发现新事物的巨大潜力，但这种方法仍很少在基因组学中使用。在本研究中，我们分析了属于RASopathy类疾病（RASopathies）的6种综合症的数据，并将它们作为研究基因组，相互作用组和表型水平之间关联的模型。从OMIM和NCBI GeneReviews数据库中收集了6种综合征的致病基因和临床症状：Noonan，具有多种lentigine的Noonan综合征，1型神经纤维瘤病，心筋膜皮肤病以及Legius和Costello综合征。 STRING工具用于鉴定蛋白质相互作用。发现6种RAS病综合征与12个致病基因有关。我们构建了RASopathy蛋白及其邻居的一个相互作用基因组，并建立了328个临床症状的数据库。收集的数据以基因组，交互组和表组的水平显示，并作为所有3种数据类型的集成网络显示。本研究为RASopathies中的相互作用组和表型之间的关联的未来研究提供了基线，并且可以作为分析表型和遗传相关疾病的新方法。

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