Skin and Connective Tissue Diseases Commons^™

Mutant Cx43 In Skin Differentiation And Disease, Jared M. Churko

Electronic Thesis and Dissertation Repository

Connexin43 (Cx43) is expressed within keratinocytes, dermal fibroblasts, and the hair follicle epithelium. Since Cx43 is so widely expressed in resident cells of the skin, we speculated that this connexin would play an essential role in skin homeostasis, hair growth and wound healing. Mutations in the gene which encodes Cx43 lead to a disease called oculodentodigital dysplasia (ODDD) and patients expressing the frame-shift mutants (fs230 or fs260) develop a skin disease called palmar plantar hyperkeratosis. In addition, patients with ODDD often develop hair which is dry, sparse, and slow growing. To study skin abnormalities associated with ODDD, hair growth and …