色素性视网膜炎(RP)是一种遗传性视网膜疾病,可导致光感受器杆状细胞萎缩。由于个别有缺陷的基因聚集在同一种疾病上,我们假设RP的所有因果基因都属于一个复杂的网络。为了探索这个假设,我们使用归因于RP的161个基因进行了基因连接分析,从视网膜信息网编译,RetNet。然后,我们检查了这些基因的蛋白质相互作用网络(PIN)。根据我们的假设,使用STRING,我们直接连接了公认的159个基因中的149个基因。为了发现PIN和十个未召回基因之间的关联,我们开发了一种算法来确定最佳候选基因,以将未调用的基因连接到PIN,并确定了10个这样的基因。我们认为这十个基因中的突变也可能导致RP;通过基于细胞位置和相关功能对已知的因果基因进行分析和分类来支持这一概念。在所有已记录的基因中成功建立PIN以及发现RP的新基因强烈表明在分子水平上导致疾病的相互联系。此外,我们的计算基因搜索协议可以帮助识别负责遗传疾病的基因和基因座,不限于RP。
Retinitis Pigmentosa (RP) is a hereditary retinal disorder that causes the atrophy of photoreceptor rod cells. Since individual defective genes converge on the same disease, we hypothesized that all causal genes of RP belong in a complex network. To explore this hypothesis, we conducted a gene connection analysis using 161 genes attributed to RP, compiled from the Retinal Information Network, RetNet. We then examined the protein interaction network (PIN) of these genes. In line with our hypothesis, using STRING, we directly connected 149 genes out of the recognized 159 genes. To uncover the association between the PIN and the ten unrecalled genes, we developed an algorithm to pinpoint the best candidate genes to connect the uncalled genes to the PIN and identified ten such genes. We propose that mutations within these ten genes may also cause RP; this notion is supported by analyzing and categorizing the known causal genes based on cellular locations and related functions. The successful establishment of the PIN among all documented genes and the discovery of novel genes for RP strongly suggest an interconnectedness that causes the disease on the molecular level. In addition, our computational gene search protocol can help identify the genes and loci responsible for genetic diseases, not limited to RP.