title: Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21.
abstract: Ecm1, the mouse gene encoding extracellular matrix protein 1, is highly expressed in bone and cartilage as well as in osteogenic, preosteoblastic and chondroblastic cell lines. Ecm1 was recently localized to a chromosomal region in mouse syntenic to human chromosome 1q21, establishing 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 now report the radiation hybrid mapping of human ECM1 to 1q21, and the gene structure and coding sequence of human ECM1.
authors.affiliation: Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: M R
authors.initials: MR
authors.lastname: Johnson
authors.forename: D J
authors.initials: DJ
authors.lastname: Wilkin
authors.forename: H L
authors.initials: HL
authors.lastname: Vos
authors.forename: R I
authors.initials: RI
authors.lastname: Ortiz de Luna
authors.forename: A M
authors.initials: AM
authors.lastname: Dehejia
authors.forename: M H
authors.initials: MH
authors.lastname: Polymeropoulos
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells / Q000528:radiation effects; D051379:Mice; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA
chemical_list: C490607:ECM1 protein, human; C094556:Ecm1 protein, mouse; D016326:Extracellular Matrix Proteins