J. Lipid Res.
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Originally published In Press as doi:10.1194/jlr.M400462-JLR200 on April 1, 2005

Papers In Press, published online ahead of print June 1, 2005
J. Lipid Res., doi:10.1194/jlr.M400462-JLR200
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Journal of Lipid Research, Vol. 46, 1150-1162, June 2005
Copyright © 2005 by American Society for Biochemistry and Molecular Biology

Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts

David Cunningham*, Daniel Swartzlander*, Sandya Liyanarachchi{dagger}, Ramana V. Davuluri{dagger} and Gail E. Herman1,*,§

* Center for Molecular and Human Genetics, Columbus Children's Research Institute, Ohio State University, Columbus, OH
{dagger} Division of Human Cancer Genetics, Comprehensive Cancer Center, Ohio State University, Columbus, OH
§ Department of Pediatrics, Ohio State University, Columbus, OH

The online version of this article (available at http://www.jlr.org) contains an additional three tables.

Published, JLR Papers in Press, April 1, 2005. DOI 10.1194/jlr.M400462-JLR200

1 To whom correspondence should be addressed. e-mail: hermang{at}pediatrics.ohio-state.edu

Seven human disorders of postsqualene cholesterol biosynthesis have been described. One of these, congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, results from mutations in the X-linked gene NADH sterol dehydrogenase-like (NSDHL) encoding a sterol dehydrogenase. A series of mutant alleles of the murine Nsdhl gene are carried by bare patches (Bpa) mice, with Bpa1H representing a null allele. Heterozygous Bpa1H females display skin and skeletal abnormalities in a distribution reflecting random X inactivation, whereas hemizygous male embryos die before embryonic day 10.5. To investigate the molecular basis of defects associated with perturbations in cholesterol biosynthesis, microarray analysis was performed comparing gene expression in embryonic fibroblasts expressing the Bpa1H allele versus wild-type (wt) cells. Labeled cDNAs from cells grown in normal serum or lipid-depleted serum (LDS) were hybridized to microarrays containing 22,000 mouse genes. Among 44 genes that showed higher expression in the Bpa1H versus wt cells grown in LDS, 11 function in cholesterol biosynthesis, 7 are involved in fatty acid synthesis, 3 (Srebp2, Insig1, and Orf11) encode sterol-regulatory proteins, and 2 (Ldlr and StarD4) are lipid transporters.

Of the 21 remaining genes, 16 are known genes, some of which have been implicated previously in cholesterol homeostasis or lipid-mediated signaling, and 5 are uncharacterized cDNA clones.

Abbreviations: Bpa, bare patches; CHILD, congenital hemidysplasia with ichthyosiform nevus and limb defects; 7DHC, 7-dehydrocholesterol; E13.5, embryonic day 13.5; ER, endoplasmic reticulum; FACS, fluorescence-activated cell sorting; GFP, green fluorescent protein; HMGR, 3-hydroxy-3-methylglutaryl-CoA reductase; LDS, lipid-depleted serum; MEF, mouse embryonic fibroblast; NSDHL, NADH sterol dehydrogenase-like; SCAP, sterol-regulatory element binding protein cleavage-activating protein; SREBP, sterol-regulatory element binding protein; wt, wild type

Supplementary key words cholesterol biosynthesis • congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome • microarray • bare patches • sterol • development


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