Desmoglein genes are up-regulated in the pk mutant mouse

Jingqing Luo1, Lin Zhang, Kurt Stenn

  • 1The Skin Research Center of Johnson & Johnson CPWW, Skillman, NJ 08558, USA. jluol@prdus.jnj.com

Insights

The Plucked (pk) mouse mutation causes hair loss due to follicular scarring and obstructed hair shafts. Gene expression analysis reveals up-regulation of desmoglein 1 and desmoglein 3 in mutant mice skin.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • The Plucked (pk) mutation is an autosomal recessive hair phenotype observed in DBA/2J mice.
  • Histological analysis shows follicular scarring and obstructed hair shaft movement in adult pk mutant mice, leading to hair loss.

Purpose of the Study:

  • To map the genetic locus of the pk mutation.
  • To investigate the molecular mechanisms underlying the hair loss phenotype.

Main Methods:

  • Genetic mapping using 370 backcross progeny to identify the chromosomal location of the pk mutation.
  • Northern Blot analysis to assess gene expression in wild-type and pk mutant mouse skin.

Main Results:

  • The pk mutation was mapped to a 1.1cM region on chromosome 18.
  • Desmoglein 1 (Dsg1) and Desmoglein 3 (Dsg3) gene expression were found to be up-regulated in the skin of pk mutant mice.
  • The identified chromosomal region contains genes for desmosome cadherins, crucial for epidermal cell adhesion.

Conclusions:

  • The Plucked (pk) mutation is genetically mapped to chromosome 18.
  • Up-regulation of Dsg1 and Dsg3 suggests their potential involvement in the hair follicle pathology observed in pk mutant mice.
  • Desmosome cadherins are implicated in the pathogenesis of this hair loss phenotype.