Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16171-6. Epub 2008 Oct 13.

Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.

Osipovich AB, Jennings JL, Lin Q, Link AJ, Ruley HE.

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Department of Microbiology and Immunology, Vanderbilt University School of Medicine, 1161 21st Ave. South, Nashville, TN 37232-2363, USA. anna.osipovich@vanderbilt.edu

Abstract

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia are recessive spondyloepimetaphyseal dysplasias caused by loss-of-function mutations in dymeclin (Dym), a gene with previously unknown function. Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species. Dym-mutant cells display multiple defects in vesicle traffic, as evidenced by enhanced dispersal of Golgi markers in interphase cells, delayed Golgi reassembly after brefeldin A treatment, delayed retrograde traffic of an endoplasmic reticulum-targeted Shiga toxin B subunit, and altered furin trafficking; and the Dym protein associates with multiple cellular proteins involved in vesicular traffic. These results establish dymeclin as a novel protein involved in Golgi organization and intracellular vesicle traffic and clarify the molecular basis for chondrodysplasia in mice and men.

PMID:: 18852472; [PubMed - indexed for MEDLINE]
PMCID: PMC2571016

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