Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways

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.

Keratin 4 regulates the development of human white sponge nevus

“…This was probably related to short supply of enzymes, which may make the mucosa epithelium become thick, the superficial layer barely desquamate. 22 The feeding or growth of KRT4 transgenic mice was as normal as WT mice, possibly because KRT4 is not an indispensable gene of development, and the absence or mutation of KRT4 gene may cause localized pathological changes, but not initiate the genetic changes. 23 Furthermore, a compensatory mechanism between KRT4 and KRT13 in these transgenic mice was susceptible.…”

“…Of the spinous layer membrane, there were plenty of Odland bodies with abnormal shapes and quantities, which seldom moved to intercellular space. This was probably related to short supply of enzymes, which may make the mucosa epithelium become thick, the superficial layer barely desquamate …”

Erratum to: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways

“…After publication of [ 1 ] the authors realised that the original publication had two descriptive errors when referring to diseases. “periodontal” was written rather than “mucous membrane” in the article on page 1, lines 12 and 25.…”