RGD Reference Report - A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. - Rat Genome Database

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A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.

Authors: Meyer, Birgit  Bazzi, Hisham  Zidek, Vaclav  Musilova, Alena  Pravenec, Michal  Kurtz, Theodore W  Nurnberg, Peter  Christiano, Angela M 
Citation: Meyer B, etal., Differentiation. 2004 Dec;72(9-10):541-7. doi: 10.1111/j.1432-0436.2004.07209007.x.
RGD ID: 150521562
Pubmed: PMID:15617564   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1432-0436.2004.07209007.x   (Journal Full-text)

A recessive hairless mutation arose spontaneously in a congenic line of spontaneously hypertensive rats SHR.BN-(D1Mit3-Igf2)/Ipcv. The mutant rats develop generalized alopecia except for partial hair growth on their heads. Affected animals of the congenic line were crossed with LEW rats and randomly bred for several generations. A genome scan in 74 affected and 75 unaffected offspring localized the mutant gene on rat chromosome 18p12, near the marker D18Rat107, which is closely linked to the desmosomal cadherin gene cluster, syntenic to mouse chromosome 18 and human chromosome 18q12. Recently, the mouse and rat phenotypes lah/lah (lanceolate hair) and lah(J)/lah(J)(lanceolate hair-J) were found to be caused by mutations in the desmoglein 4 (Dsg4) gene. Direct sequencing of the Dsg4 gene in the SHR revealed a homozygous C-to-T transition generating a premature termination codon within exon 8 in the affected animals. 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.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
DSG4Humanalopecia  ISODsg4 (Rattus norvegicus)DNA:missense mutation:exon 8 (rat)RGD 
Dsg4Ratalopecia  IAGP DNA:missense mutation:exon 8 (rat)RGD 
Dsg4Mousealopecia  ISODsg4 (Rattus norvegicus)DNA:missense mutation:exon 8 (rat)RGD 
DSG4Humanhypotrichosis  ISODsg4 (Rattus norvegicus)DNA:missense mutation:exon 8 (rat)RGD 
Dsg4Rathypotrichosis  IAGP DNA:missense mutation:exon 8 (rat)RGD 
Dsg4Mousehypotrichosis  ISODsg4 (Rattus norvegicus)DNA:missense mutation:exon 8 (rat)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Dsg4Rathyperkeratosis  IAGP DNA:missense mutation:exon 8 ratRGD 
Dsg4Ratkinked vibrissae  IAGP DNA:missense mutation:exon 8 ratRGD 
Dsg4Ratsparse hair  IAGP DNA:missense mutation:exon 8 ratRGD 
Dsg4Ratsparse vibrissae  IAGP DNA:missense mutation:exon 8 ratRGD 
Dsg4Ratwrinkled skin  IAGP DNA:missense mutation:exon 8 ratRGD 
Objects Annotated

Genes (Rattus norvegicus)
Dsg4  (desmoglein 4)

Genes (Mus musculus)
Dsg4  (desmoglein 4)

Genes (Homo sapiens)
DSG4  (desmoglein 4)

Additional Information