学科主题基础医学
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma
Song, S.1,2; Shen, C.1,2; Song, G.3; Mao, X.3; Yan, G.1,2; Wang, X.1,2; Yan, M.1,2; Zhong, N.1,2,4
关键词heterogeneous phenotype loricrin gene nuclear accumulation nuclear localization signal
刊名BRITISH JOURNAL OF DERMATOLOGY
2008-09-01
DOI10.1111/j.1365-2133.2008.08657.x
159期:3页:714-719
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]CORNIFIED CELL-ENVELOPE ; PROGRESSIVE SYMMETRIC ERYTHROKERATODERMA ; VOHWINKELS-KERATODERMA ; MUTANT LORICRIN ; UNDERLIES ; PROTEIN ; VARIANT ; MICE
英文摘要

Background Loricrin keratoderma (LK) is a group of congenital skin abnormalities characterized by the common features of honeycomb palmoplantar keratoderma and diffused ichthyosiform dermatosis. Earlier studies have shown that LK is associated with genetic defects of the loricrin gene.

Objectives To determine the correlation between a loricrin mutation and a heterogeneous phenotype of loricrin keratoderma.

Methods We obtained DNA samples from a large family in which affected members showed more severe hyperkeratosis on the dorsal parts of their hands, mild palmoplantar keratoderma with no honeycomb-like manifestations and generalized ichthyosis. Screening of the loricrin gene was performed by direct sequencing of the entire coding region. Plasmids encoding the green fluorescent protein-tagged human loricrin were constructed and transferred to 293A cells for subcellular localization analyses.

Results Molecular analyses of the loricrin gene identified a novel insertion mutation c.545-546insG that resulted in a frameshift after codon 182. This mutation was predicted to produce a mutant protein with a frameshift of its C-terminal sequence of amino acids that embeds a newly generated nuclear localization signal (NLS), and to be 22 amino acids longer than the wild-type protein due to a delayed termination codon. The NLSs appear to result in an accumulation of mutant loricrin within nuclei.

Conclusions Our results extend the repertoire of loricrin mutations underlying LK, provide further evidence that heterogeneous phenotypes of LK may be the result of genetic heterogeneity of loricrin mutations, and demonstrate that nuclear accumulation of mutant loricrin is due to the nuclear targeting sequences in the mutant C-terminus.

语种英语
WOS记录号WOS:000258470700027
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/56826
专题北京大学基础医学院_北京大学医学遗传中心
北京大学药学院_天然药物与仿生药物国家重点实验室
北京大学第一临床医学院_泌尿外科
作者单位1.Hosp Botou City, Botou, Hebei, Peoples R China
2.Peking Univ, Ctr Med Genet, Beijing 100083, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100083, Peoples R China
4.New York State Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USA
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Song, S.,Shen, C.,Song, G.,et al. A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma[J]. BRITISH JOURNAL OF DERMATOLOGY,2008,159(3):714-719.
APA Song, S..,Shen, C..,Song, G..,Mao, X..,Yan, G..,...&Zhong, N..(2008).A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.BRITISH JOURNAL OF DERMATOLOGY,159(3),714-719.
MLA Song, S.,et al."A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma".BRITISH JOURNAL OF DERMATOLOGY 159.3(2008):714-719.
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