Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21

Maureen R. Johnson, Douglas J. Wilkin, Hans L. Vos, Rosa Isela Ortiz De Luna, Anindya M. Dehejia, Mihael H. Polymeropoulos, Clair A. Francomano

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)289-292
Number of pages4
JournalMatrix Biology
Volume16
Issue number5
DOIs
StatePublished - Nov 1997
Externally publishedYes

Keywords

  • Bone
  • Cartilage
  • Chromosome 1q21
  • Extracellular matrix protein 1

ASJC Scopus subject areas

  • Molecular Biology

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  • Cite this

    Johnson, M. R., Wilkin, D. J., Vos, H. L., Ortiz De Luna, R. I., Dehejia, A. M., Polymeropoulos, M. H., & Francomano, C. A. (1997). Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. Matrix Biology, 16(5), 289-292. https://doi.org/10.1016/S0945-053X(97)90017-2