CHARACTERIZATION OF THE HUMAN EXTRACELLULAR-MATRIX PROTEIN-1 GENE ON CHROMOSOME 1Q21

Ecm1, the mouse gene encoding extracellular matrix protein 1, is highl y expressed in bone and cartilage as well as in osteogenic, preosteobl astic and chondroblastic cell lines. Ecm1 was recently localized to a chromosomal region in mouse syntenic to human chromosome 1q21, establi shing this gene as a prime candidate gene for pycnodysostosis, a rare, autosomal recessive sclerosing skeletal dysplasia. Shortly thereafter , it was determined that cathepsin K is the pycnodysostosis gene. We n ow report the radiation hybrid mapping of human ECM1 to 1q21, and the gene structure and coding sequence of human ECM1.