TLDR Deleting the CDSN gene causes severe skin and hair problems, leading to death.
The study investigated the role of the corneodesmosin (CDSN) gene in skin and hair follicle health. CDSN was found to be crucial for maintaining desmosome integrity, which is essential for skin-barrier function and hair follicle structure. In mice, deletion of the Cdsn gene led to neonatal death due to epidermal tearing and a chronic defect in the epidermal permeability barrier. This resulted in hyperproliferative epidermis, degeneration of both the epidermis and hair follicles, and ultimately a lethal barrier defect in adults. The research highlighted that while CDSN was not necessary for skin-barrier formation in utero, it was vital for preserving the barrier and hair follicle architecture throughout life.
372 citations
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December 2004 in “Nature Genetics” 195 citations
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