Animal Models of Human Skin Disease

The document discussed the use of mouse models to study human skin diseases, highlighting the role of various proteins in maintaining skin integrity. It was found that epidermal keratins, plakins, plakophilins, and integrins were crucial for the basal epidermis's integrity, with mutations in these proteins leading to severe skin pathologies. Interestingly, the ablation of suprabasal keratins and cornified envelope genes had limited effects on skin integrity, suggesting redundancy or a need to reassess structure-function relationships. The study also noted that point mutations in certain genes caused severe phenotypes, whereas loss of function mutations did not. Understanding the complex gene families encoding epidermal protein networks was deemed essential for developing effective therapies. Additionally, the document mentioned that the absence of keratin 17 led to age- and strain-dependent alopecia in mice, indicating its importance in hair formation and integrity.