Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia

2003 ◽  
Author(s):  
Hiroaki Nakayama ◽  
Yuichi Endo ◽  
Shigeo Aota ◽  
Masato Sato ◽  
Teizo Fujita ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Japanese Patients ◽  
Novel Mutations ◽  
Comp Gene

Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasiaa

1996 ◽  
Vol 785 (1) ◽  
pp. 188-194 ◽  
Author(s):  
Daniel H. Cohn ◽  
Michael D. Briggs ◽  
Lily M. King ◽  
David L. Rimoin ◽  
William R. Wilcox ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Comp Gene

scholarly journals Cartilage Oligomeric Matrix Protein-Deficient Mice Have Normal Skeletal Development

2002 ◽  
Vol 22 (12) ◽  
pp. 4366-4371 ◽  
Author(s):  
Liz Svensson ◽  
Attila Aszódi ◽  
Dick Heinegård ◽  
Ernst B. Hunziker ◽  
Finn P. Reinholt ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Skeletal Development ◽  
Clinical Signs ◽  
Immunohistochemical Analysis ◽  
Epiphyseal Dysplasia ◽  
Comp Gene ◽  
Deficient Mice

ABSTRACT Cartilage oligomeric matrix protein (COMP) belongs to the thrombospondin family and is a homopentamer primarily expressed in cartilage. Mutations in the COMP gene result in the autosomal dominant chondrodysplasias pseudoachondroplasia (PSACH) and some types of multiple epiphyseal dysplasia (MED), which are characterized by mild to severe short-limb dwarfism and early-onset osteoarthritis. We have generated COMP-null mice to study the role of COMP in vivo. These mice show no anatomical, histological, or ultrastructural abnormalities and show none of the clinical signs of PSACH or MED. Northern blot analysis and immunohistochemical analysis of cartilage indicate that the lack of COMP is not compensated for by any other member of the thrombospondin family. The results also show that the phenotype in PSACH/MED cartilage disorders is not caused by the reduced amount of COMP.

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