The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene.

Jahoda CA; Kljuic A; OShaughnessy R; Crossley N; Whitehouse CJ; Robinson M; Reynolds AJ; Demarchez M; Porter RM; Shapiro L; Christiano AM

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The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene.

机译：披针形毛发大鼠表型是由桥粒芯糖蛋白4基因的钙配位位点的错义突变引起的。

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Desmosomal cadherins are essential cell adhesion molecules present throughout the epidermis and other organs, whose major function is to provide mechanical integrity and stability to epithelial cells in a wide variety of tissues. We recently identified a novel desmoglein family member, Desmoglein 4 (Dsg4), using a positional cloning approach in two families with localized autosomal recessive hypotrichosis (LAH) and in the lanceolate hair (lah) mouse. In this study, we report cloning and identification of the rat Dsg4 gene, in which we discovered a missense mutation in a naturally occurring lanceolate hair (lah) rat mutant. Phenotypic analysis of lah/lah mutant rats revealed a striking hair shaft defect with the appearance of a lance head within defective hair shafts. The mutation disrupts a critical calcium binding site bridging the second and third extracellular domains of Dsg4, likely disrupting extracellular interactions of the protein.

机译：桥粒钙黏着蛋白是存在于整个表皮和其他器官中的必需细胞粘附分子，其主要功能是为多种组织中的上皮细胞提供机械完整性和稳定性。我们最近确定了一个新的桥粒芯蛋白家族成员，桥粒芯蛋白4（Dsg4），在两个具有局部常染色体隐性遗传不足（LAH）的家庭和在披针形头发（lah）小鼠中使用位置克隆方法。在这项研究中，我们报告了大鼠Dsg4基因的克隆和鉴定，在该基因中我们发现了自然存在的披针形头发（lah）大鼠突变体中的错义突变。对lah / lah突变大鼠的表型分析显示，明显的毛干缺损，并且在毛干缺损中出现了长矛头。突变破坏了一个关键的钙结合位点，桥接了Dsg4的第二个和第三个胞外域，可能破坏了蛋白质的胞外相互作用。

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来源
《Genomics》 |2004年第5期|共10页
作者
Jahoda CA; Kljuic A; OShaughnessy R; Crossley N; Whitehouse CJ; Robinson M; Reynolds AJ; Demarchez M; Porter RM; Shapiro L; Christiano AM;
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原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
Hair; Mutation; Missense; desmoglein; Genes; Calcium; 毛发; 突变; 误义; 基因; 钙;

机译：Hair;Mutation;Missense;desmoglein;Genes;Calcium;毛发;突变;误义;基因;钙;

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1. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. [J] . Jahoda CA, Kljuic A, OShaughnessy R, Genomics . 2004,第5期

机译：披针形毛发大鼠表型是由桥粒芯糖蛋白4基因的钙配位位点的错义突变引起的。
2. Expanding the phenotype associated with missense mutations of the ARX gene. [J] . Agnieszka Charzewska, Magdalena Nawara, Anna Jakubiuk-Tomaszuk, American journal of medical genetics, Part A . 2013,第7期

机译：扩展与ARX基因的错义突变相关的表型。
3. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. [J] . Kapoor A, Satishchandra P, Ratnapriya R, Annals of neurology . 2008,第2期

机译：特发性癫痫综合征与3q13.3-q21和细胞外钙敏感受体基因的错义突变有关。
4. Defining a Glycosylation Site of Human PSA Prompted by Missense Mutation by LC-MS/MS [C] . Ehwang Song, Yunli Hu, Chuan-Yih Yu, ASMS Conference on Mass Spectrometry and Allied Topics . 2015

机译：通过LC-MS / MS定义由麦基突变突变的人PSA的糖基化位点
5. Functional studies of rare CFTR missense mutations facilitate interpretation of genotype-phenotype relationships. [D] . Krasnov, Kristina V. 2009

机译：罕见CFTR错义突变的功能研究有助于解释基因型与表型的关系。
6. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. [O] . H C Dietz, R E Pyeritz, E G Puffenberger, 1992

机译：一个家庭中的马凡表型变异在原纤维蛋白基因的表皮生长因子样基序中分离了一个错义突变。
7. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis [O] . Messenger Andrew G., Bazzi Hisham, Parslew Richard, 2005

机译：Desmoglein 4基因的钙黏着蛋白相互作用位点中的一个错义突变是局部常染色体隐性hyporichosis的基础。

The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene.

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