Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21.
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.
Johnson
M R
MR
Medical Genetics Branch, National Institutes of Health, Bethesda, Maryland, USA.
Wilkin
D J
DJ
Vos
H L
HL
Ortiz de Luna
R I
RI
Dehejia
A M
AM
Polymeropoulos
M H
MH
Francomano
C A
CA
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
C490607:ECM1 protein, human; C094556:Ecm1 protein, mouse; D016326:Extracellular Matrix Proteins