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

胶原蛋白家族对于维持组织的完整性是必不可少的。这些蛋白质的功能已经被广泛的人类疾病清楚地说明了，这些疾病是由胶原基因突变引起的。在过去的几年里，在人类基因组数据库中已经发现了七种新的胶原蛋白。在这里，我们提出了其中之一的胶原XXII的结构和功能特征，它定位于肌腱连接和毛囊的基底膜，以及肌肉、心脏、眼睛和软骨的某些其他组织连接。我们将生产XXII胶原蛋白作为重组蛋白，并研究其生物合成、结构、相互作用伙伴和调控。为了阐明XXII胶原蛋白的功能，已经开始了一代基因敲除小鼠。同时，这种胶原蛋白在人类病理学中的参与也将被提及。在几个器官中的限制性组织表达表明，XXII胶原在遗传性或获得性人类综合征中发挥了作用，包括头发紊乱或肌肉营养不良，或者在具有多器官症状的自身免疫性疾病中作为自身抗原。

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.