Collagen Protein Abnormalities Produced by Site-Directed Mutagenesis of the Proal(I) Gene

Abstract

Site-directed mutagenesis of collagen genes offers a powerful new approach for studying structure-function relationships. The construction of engineered mutant collagen genes coding for glycine substitutions and their expression giving rise to the osteogenesis imperfecta type II phenotype in cells and transgenic mice has recently been achieved^I. This paper further defines the molecular abnormalities of collagen and bone pathology resulting from the expression of the mutant genes.

Key Words:

• Osteogenesis Imperfecta
• Collagen
• Mutagenesis
• Transgenic mice