Abstract
BackgroundWhite sponge nevus (WSN) is a rare periodontal hereditary disease. To date, almost all WSN studies have focused on case reports or mutation reports. Thus, the mechanism behind WSN is still unclear. We investigated the pathogenesis of WSN using expression profiling.MethodsSequence analysis of samples from a WSN Chinese family revealed a mutation (332 T > C) in the KRT13 gene that resulted in the amino acid change Leu111Pro. The pathological pathway behind the WSN expression profile was investigated by RNA sequencing (RNA-seq).ResultsConstruction of a heatmap revealed 24 activated genes and 57 reduced genes in the WSN patients. The ribosome structure was damaged in the WSN patients. Moreover, the translation rate was limited in the WSN patients, whereas ubiquitin-mediated proteolysis was enhanced.ConclusionsOur results suggest that the abnormal degradation of the KRT13 protein in WSN patients may be associated with keratin 7 (KRT7) and an abnormal ubiquitination process.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0285-y) contains supplementary material, which is available to authorized users.
Highlights
White sponge nevus (WSN) is a rare periodontal hereditary disease
Using the Ingenuity Pathways Analysis (IPA) software package, we identified 19 significant bio-function terms and 10 significant canonical pathways through Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis (Fig. 3a and b) (Additional files 1 and 2).The strongest enriched gene ontology terms found in the Gene Set Enrichment Analysis (GSEA)/GO analysis indicated that genes involved in the structural constituents of ribosomes are expressed at reduced levels in WSN patients; this finding is in agreement with the observation that the structure of the ribosome is damaged in WSN patients (Fig. 4a)
The snapshot of the KEGG enrichment pathways showed that protein degradation levels and ubiquitin-mediated proteolysis were enhanced in the WSN patients (Fig. 4b)
Summary
White sponge nevus (WSN) is a rare periodontal hereditary disease. White sponge nevus (WSN) is a rare periodontal hereditary disease that was first described by Hyde [1] and coined by Cannon [2]. It is characterized by white, thickened, folded and spongy lesions of the oral mucosa, the esophageal, laryngeal, nasal and anogenital mucosa might be affected [3]. With the advent of next-generation sequencing technologies, RNA-seq has become a useful tool for defining the transcriptomes of cells This technology may be useful for analyzing gene expression at the exon level and delineating novel splicing variants [21,22,23,24,25].
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