Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus
September 1997
in “
The journal of investigative dermatology/Journal of investigative dermatology
”
New to Keratin? There is a guide in the encyclopedia. Read the guide → alopecia anagen follicles inner root sheath outer root sheath vesicles pemphigus vulgaris keratinocyte markers keratin 6 adhesion molecules thymidine insertion desmoglein 3 gene premature stop codon hair loss hair growth phase hair follicle sheath blisters skin disease skin cells keratin cell adhesion genetic mutation
Studysummary This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
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The study investigated the balding (bal) mutation in mice, an autosomal recessive mutation causing alopecia and immunologic anomalies. Researchers localized the mutation to chromosome 18 and examined histologic lesions in two alleles (bal(J) and bal(Pas)). They observed separation of the inner and outer root sheath in anagen follicles, making hair fibers easily pluckable, and vesicles in various body parts. Despite these lesions resembling human pemphigus vulgaris, no autoantibodies were detected. Normal expression of keratinocyte markers was found, but keratin 6-positive cells indicated a defect in adhesion molecules. This defect was linked to a thymidine insertion in the desmoglein 3 gene, causing a premature stop codon.
