The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins

A highly conserved family of putative tumor suppressor genes Although the pathogenesis of HME was first described nearly 200 years ago (1), it is only in the past few years that elegant genetic analyses have determined that both hereditary and sporadic cases of exostoses are linked to two main loci, EXT1 on chromosome 8q24.1 (4) and EXT2 on chromosome 11p11-p12 (5), with rare linkage to another locus, EXT3, on chromosome 19p (6).Because exostosis formation is associated with loss of heterozygosity at one or several EXT loci, it has been suggested that the EXT proteins have tumor suppres-The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins