Col7a1-flox Mouse

COL7A1, encoding type VII collagen, is a crucial gene as type VII collagen is a major component of the anchoring fibrils at the dermal-epidermal junction, which is essential for maintaining skin integrity [3,6,7]. Mutations in COL7A1 can disrupt this structure and lead to various skin-related diseases.

Mutations in COL7A1 cause malfunction, reduction or absence of type VII collagen in the skin's basement membrane zone, resulting in dystrophic epidermolysis bullosa (DEB), a severe skin blistering disease with a high risk of squamous cell carcinoma [1]. In cholangiocarcinoma, COL7A1 expression affects cell proliferation, migration, and invasion through the COL7A1/PI3K/AKT axis [2]. In clear-cell renal cell carcinoma, COL7A1 expression can stratify patients in terms of aggressiveness and is a new prognosis marker [4]. Also, RNA trans-splicing has been explored to correct COL7A1 mutations in vitro for treating RDEB [1,5].

In summary, COL7A1 is vital for skin integrity. Research on COL7A1-related diseases, such as DEB, cholangiocarcinoma, and clear-cell renal cell carcinoma, through studying its mutations and expression, has provided insights into disease mechanisms and potential treatment strategies like RNA trans-splicing.