期刊
GENOMICS
卷 83, 期 5, 页码 747-756出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygeno.2003.11.015
关键词
desmosome; cadherin; desmoglein 4; hypotrichosis; lanceolate; keratinization; hyperproliferation; chromosome 18; calcium binding domain; extracellular domain
资金
- Biotechnology and Biological Sciences Research Council [G18988] Funding Source: Medline
- NIAMS NIH HHS [R01AR44924] Funding Source: Medline
- Biotechnology and Biological Sciences Research Council [G18988] Funding Source: researchfish
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, ill 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. (C) 2004 Elsevier Inc. All rights reserved.
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