RGD Reference Report - The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. - Rat Genome Database

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

Authors: Jahoda, CA  Kljuic, A  O'Shaughnessy, R  Crossley, N  Whitehouse, CJ  Robinson, M  Reynolds, AJ  Demarchez, M  Porter, RM  Shapiro, L  Christiano, AM 
Citation: Jahoda CA, etal., Genomics 2004 May;83(5):747-56.
RGD ID: 1302434
Pubmed: PMID:15081105   (View Abstract at PubMed)
DOI: DOI:10.1016/j.ygeno.2003.11.015   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
DSG4Humanhypotrichosis  ISODsg4 (Rattus norvegicus)DNA:missense mutationRGD 
Dsg4Rathypotrichosis  IAGP DNA:missense mutationRGD 
Dsg4Mousehypotrichosis  ISODsg4 (Rattus norvegicus)DNA:missense mutationRGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Dsg4Ratcell adhesion  TAS  RGD 

Molecular Function

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Dsg4Ratcalcium ion binding  IMP  RGD 

Objects Annotated

Genes (Rattus norvegicus)
Dsg4  (desmoglein 4)

Genes (Mus musculus)
Dsg4  (desmoglein 4)

Genes (Homo sapiens)
DSG4  (desmoglein 4)


Additional Information