The roles of collagen genes in skeletal development and morphogenesis.

Abstract

Molecular genetic analyses of osteochondrodysplasias in mice and humans have recently led to the identification of mutations in genes encoding structural proteins growth factor receptors and sulphate transporters. Further analyses of such inherited disorders, using rapid techniques for gene mapping, positional cloning and mutation detection, will undoubtedly uncover other genes that are important for skeletal development. Together with studies of transgenic mice, in which specific genes that are expressed in the skeleton are mutated, these analyses will provide insight into genes that are essential for skeletal morphogenesis.