Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype.

Journal article

Over 70 mutations in the cartilage oligomeric matrix protein (COMP), a large extracellular pentameric glycoprotein synthesized by chondrocytes, have been identified as causing two skeletal dysplasias: multiple epiphyseal dysplasia (MED/EDM1), and a dwarfing condition, pseudoachondroplasia (PSACH). These mutations induce misfolding of intracellular COMP, resulting in retention of the protein in the rough endoplasmic reticulum (rER) of chondrocytes. This accumulation of COMP in the rER creates ...

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Authors: Merritt, T; Alcorn, J; Haynes, R; Hecht, J

• Publication status: Published
• Journal: Journal of orthopaedic research : official publication of the Orthopaedic Research Society
• Volume: 24
• Issue: 4
• Pages: 700-707
• Publication date: 2006-04-01
• DOI: 10.1002/jor.20100
• EISSN: 1554-527X
• ISSN: 0736-0266
• Language: English
• Keywords: Mutation; Cells, Cultured; Collagen Type IX; Achondroplasia; Transfection; Humans; Phenotype; Chondrocytes; Glycoproteins; Extracellular Matrix Proteins; Endoplasmic Reticulum