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Cellular traffic backups implicated in skeletal malformations

nsport to a human craniofacial birth defect.

In the same issue of Nature Genetics ?and back-to-back with Knapik's paper ?a group of researchers from the University of California at Davis report the human variant of this gene, which causes a craniofacial condition called CLSD (Cranio-Lenticulo-Sutural Dysplasia) with strikingly similar defects to the crusher fish.

Although CLSD is a rare syndrome, there are hundreds of human congenital dysmorphologies of the skeleton, some of which might involve defects in this protein trafficking pathway. Knapik's model may provide insights into these disorders.

"No craniofacial or skeletal deformities ?one of the most prominent human syndromes ?had ever been linked to that pathway," Knapik said. "I'm very excited that now we have an animal model to study."
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Source:Vanderbilt University Medical Center


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