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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Dsg4  -  desmoglein 4

Rattus norvegicus

Synonyms: Desmoglein-4
 
 
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Disease relevance of Dsg4

 

High impact information on Dsg4

  • The underlying gene, desmoglein 4 (DSG4), belongs to the desmosomal cadherin superfamily and is also expressed in the cortex of the hair follicle [2].
  • 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 [3].
  • The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene [3].
  • Based on the presence of lance-head hairs typical of rodent lanceolate mutants, we performed molecular analysis of the desmoglein 4 gene and found a large intragenic deletion encompassing nine exons of the gene [4].
  • Further studies on the skin histology in affected rats demonstrated features consistent with a lanceolate hair mutation, providing further support for the crucial role of desmoglein 4 in hair shaft differentiation [1].

References

  1. A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. Meyer, B., Bazzi, H., Zidek, V., Musilova, A., Pravenec, M., Kurtz, T.W., Nurnberg, P., Christiano, A.M. Differentiation (2004) [Pubmed]
  2. More than one gene involved in monilethrix: intracellular but also extracellular players. Schweizer, J. J. Invest. Dermatol. (2006) [Pubmed]
  3. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. Jahoda, C.A., Kljuic, A., O'Shaughnessy, R., Crossley, N., Whitehouse, C.J., Robinson, M., Reynolds, A.J., Demarchez, M., Porter, R.M., Shapiro, L., Christiano, A.M. Genomics (2004) [Pubmed]
  4. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Bazzi, H., Kljuic, A., Christiano, A.M., Christiano, A.M., Panteleyev, A.A. Differentiation (2004) [Pubmed]
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