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Degrading mutations

Jonathan B Weitzman

Genome Biology 2001, 2:spotlight-20010702-01  doi:10.1186/gb-spotlight-20010702-01

The electronic version of this article is the complete one and can be found online at:

Published:2 July 2001

© 2001 BioMed Central Ltd

Research news

Inherited osteolysis (also known as vanishing bone syndrome) is characterized by abnormal destruction and resorption of bone. In the July issue of Nature Genetics, Martignetti et al. identify mutations in the matrix metalloproteinase 2 gene (MMP2) in several Saudi Arabian families with osteolysis (Nature Genetics 2001, 28:261-265). They performed a genome-wide search for homozygous-by-descent microsatellite markers, in order to hone in on a region of chromosome 16q12 that includes the MMP2 gene. MMP2 enzymatic activity could not be detected in serum or cultured skin fibroblasts from these patients. Martignetti et al. identified two homoallelic MMP2 mutations: a missense mutation (R101H) within the prodomain and a non-sense mutation (Y244X) that deletes the catalytic sites. The authors suggest that the unexpected role of MMP2 in osteolysis may involve deregulated extracelluar matrix breakdown leading to an imbalance between bone synthesis and resorption.


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    PubMed Abstract | Publisher Full Text OpenURL

  4. Completion of the primary structure of the human type IV collagenase preproenzyme and assignment of the gene (CLG4) to the q21 region of chromosome 16.

    PubMed Abstract OpenURL