title: Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways.
abstract: BACKGROUND
  White 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.
  
  
  METHODS
  Sequence 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).
  
  
  RESULTS
  Construction 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.
  
  
  CONCLUSIONS
  Our 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.
authors.affiliation: Department of Stomatology, Huashan Hospital, Fudan University, Shanghai, 200040, P. R. China. wenpingcai@126.com.
authors.forename: Wenping
authors.initials: W
authors.lastname: Cai
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai, 200072, P. R. China. jiangbeizhan@tongji.edu.cn.
authors.forename: Beizhan
authors.initials: B
authors.lastname: Jiang
authors.affiliation: School of Life sciences and Technology, Tongji University, Shanghai, 200065, P. R. China. tienan_feng@126.com.
authors.forename: Tienan
authors.initials: T
authors.lastname: Feng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, 410078, P. R. China. xuejinfeng@sklmg.edu.cn.
authors.forename: Jinfeng
authors.initials: J
authors.lastname: Xue
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. jianhuay@bcm.edu.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. chenzhenghu111@163.com.
authors.forename: Zhenghu
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. ljj19931202@163.com.
authors.forename: Junjun
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Shanghai Tenth People's Hospital, Tongji University School of Medicine, Shanghai, 200072, P. R. China. ljj19931202@163.com.
authors.forename: Rongbin
authors.initials: R
authors.lastname: Wei
authors.affiliation: Department of Stomatology, Huashan Hospital, Fudan University, Shanghai, 200040, P. R. China. slzhao@tongji.edu.cn.
authors.forename: Shouliang
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai, 200072, P. R. China. wxp990@hotmail.com.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Stomatology, Huashan Hospital, Fudan University, Shanghai, 200040, P. R. China. shangfengliufudan@163.com.
authors.forename: Shangfeng
authors.initials: S
authors.lastname: Liu
mesh_terms: D000328:Adult; D002460:Cell Line; D006801:Humans; D053529:Leukokeratosis, Hereditary Mucosal / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017423:Sequence Analysis, RNA