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

Orphanet Journal of Rare Diseases

Shangfeng Liu³  Xiaoping Wang¹  Shouliang Zhao³  Rongbin Wei⁵  Junjun Liu⁵  Zhenghu Chen⁵  Jianhua Yang⁵  Jinfeng Xue²  Tienan Feng⁴  Beizhan Jiang¹  Wenping Cai³ 

[1] Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, P. R. China;State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, P. R. China;Department of Stomatology, Huashan Hospital, Fudan University, Shanghai 200040, P. R. China;School of Life sciences and Technology, Tongji University, Shanghai 200065, P. R. China;Department of Ophthalmology, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai 200072, P. R. China

关键词: RNA sequencing (RNA-seq);    Ubiquitin C (UBC);    Keratin13;    Keratin7;    White sponge nevus;   

Others  :  1219129
DOI  :  10.1186/s13023-015-0285-y

 received in 2014-11-28, accepted in 2015-05-14,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Cai et al.

【 图 表 】

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