Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

ABSTRACT:

Background

Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease.

Methods

We screened mutagenized mice and observed a neonatal lethal skeletal dysplasia with an autosomal recessive pattern of inheritance. Through genetic mapping and positional cloning, we identified the causative mutation.

Results

Affected mice had a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210); the affected mice lacked this protein. Golgi architecture was disturbed in multiple tissues, including cartilage. Skeletal development was severely impaired, with chondrocytes showing swelling an

SUBMITTER: Smits P 

PROVIDER: S-EPMC3108191 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature