title: Keratin 13 mutations associated with oral white sponge nevus in two Chinese families.
abstract: White sponge nevus (WSN) is an autosomal dominant hereditary disease. Keratin 4 (KRT4) and Keratin 13 (KRT13) gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. The multiple alignments of KRT13 from 23 diverse species homology analyses were performed by the ClustalW program. The KRT13 expression was measured by Real-Time RT-PCR and Western blot analysis. Sequencing analysis revealed two mutations of KRT13 gene: one mutation was 332T>C and amino acid change was Leu111Pro. Another mutation was 340C>T and amino acid change was Arg114Cys. The sequence of KRT13 was highly conserved. Real-Time RT-PCR and Western blot analysis results show that KRT13 expression level is lower in patient but keep almost no change in mRNA level. When cells were treated with MG132, KRT13 protein level was increased and kept almost the same in normal and patient cells. We identified two heritable mutations in the KRT13 gene, which were associated with the development of WSN. The abnormal degradation of KRT13 protein of WSN may probably associate with the abnormal ubiquitination process.
authors.affiliation: Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.
authors.forename: Wenping
authors.initials: W
authors.lastname: Cai
authors.affiliation: Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.
authors.forename: Zhenghu
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, P. R. China.
authors.forename: Beizhan
authors.initials: B
authors.lastname: Jiang
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, P. R. China.
authors.forename: Fang
authors.initials: F
authors.lastname: Yu
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, P. R. China.
authors.forename: Ping
authors.initials: P
authors.lastname: Xu
authors.affiliation: School of Stomatology, Central South University, Xiangya Road, Changsha 410078, P. R. China.
authors.forename: Mu
authors.initials: M
authors.lastname: Wang
authors.affiliation: Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.
authors.forename: Rui
authors.initials: R
authors.lastname: Wan
authors.affiliation: Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.
authors.forename: Junjun
authors.initials: J
authors.lastname: Liu
authors.affiliation: Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.
authors.forename: Zhigang
authors.initials: Z
authors.lastname: Xue
authors.affiliation: Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Yang
authors.affiliation: Translational Center for Stem Cell Research, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P. R. China.
authors.forename: Shangfeng
authors.initials: S
authors.lastname: Liu
authors.affiliation: Laboratory of Oral Biomedical Science and Translational Medicine, School of Stomatology, Tongji University, Shanghai 200072, P. R. China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Wang
keywords: Gene mutation; Keratin 13 (KRT13); Oral disease; Ubiquitination; White sponge nevus (WSN)