コラーゲン分子の多様性と機能

概要

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To date at least twenty types of collagen molecules have been identified. With the molecular biology technology, the primary structures and gene structures of all the collagen chains have been fully studied except for the α3(V)collagen chain. In recent years molecular genetics approaches have been rapidly developed and mutations in some of the collagen genes have been shown to cause the inherited human diseases of connective tissues. In this mini review we intended to provide a brief summary of a recent progress on the molecular genetics in skeletal disorders, focusing on multiple epiphyseal dysplasia(EDM2)caused by a mutation in COL9A2 encoding the α2 chain of type IX collagen. Also, to emphasize the molecular diversity of the collagen, we dealt with a subgroup of MULTIPLEXIN within the collagen superfamily and outlined our study on the characteristic structures and functions of α1(XV)and α1(XVIII)collagens.
日本結合組織学会の論文
1998-12-25