Article
A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jun 2010
Matsumoto Kazu, Irie Fumitoshi, Mackem Susan, Yamaguchi Yu
Abstract excerpt
Multiple hereditary exostoses (MHE) is one of the most common skeletal dysplasias, exhibiting the formation of multiple cartilage-capped bony protrusions (osteochondroma) and characteristic bone deformities. Individuals with MHE carry heterozygous loss-of-function mutations in Ext1 or Ext2, genes which together encode an enzyme essential for heparan sulfate synthesis. Despite the identification of causative...
Topics
- Animals
- Base Sequence
- Chondrocytes
- DNA Primers
- Disease Models, Animal
- Exostoses, Multiple Hereditary
- Humans
- Loss of Heterozygosity
- Mice
- Mice, Inbred C57BL
- Mice, Knockout
- Mutation
- N-Acetylglucosaminyltransferases
- Exostosin 1