Collagen XXII: A novel collagen of basement membranes and other tissue junctions

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The collagen family of proteins is essential for maintaining the integrity of tissues. The functions of these proteins have been clearly illustrated by a wide spectrum of human diseases resulting from mutations in collagen genes. In the last few years, seven novel collagens have been identified in the human genome databases. Here, we propose structural and functional characterization of one of them, collagen XXII, which is localized at the basement membranes of myotendinous junctions and hair follicles, and to certain other tissue junctions in muscle, heart, eye and cartilage. We will produce collagen XXII as a recombinant protein and investigate its biosynthesis, structure, interaction partners and regulation. To elucidate the functions of collagen XXII, a generation of knockout mice has been initiated. In parallel, the involvement of this collagen in human pathology will be addressed. The restricted tissue expression in several organs predicts a role for collagen XXII in inherited or acquired human syndromes, including hair disorders or muscular dystrophies, or as an autoantigen in autoimmune diseases with multiorgan symptoms.