J. Lipid Res.
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A more recent version of this article appeared on May 1, 2003

Papers In Press, published online ahead of print March 1, 2003
J. Lipid Res., doi:10.1194/jlr.M200438-JLR200
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Submitted on November 13, 2002
Revised on February 14, 2003
Accepted on February 25, 2003

A missense mutation in the rat Abcg5 gene causes phytosterolemia in stroke-prone spontaneously hypertensive (SHRSP), spontaneously hypertensive (SHR), and normotensive (WKY inbred) rats

Kylie A. Scoggan, Heidi Gruber, and Katherine Larivière

Nutrition Research Division, Health Canada, Ottawa, Ontario K1A 0L2

Corresponding Author: kylie_scoggan{at}hc-sc.gc.ca

Sitosterolemia is an autosomal recessive disorder caused by mutations in the ABCG5 or ABCG8 half-transporter genes. These mutations disrupt the mechanism that distinguishes between absorbed sterols and is most prominently characterized by hyper absorption and impaired biliary elimination of dietary plant sterols. Sitosterolemia patients retain 15-20% of dietary plant sterols whereas, normal individuals absorb less than 1-5%. Normotensive Wistar Kyoto inbred (WKY inbred), spontaneously hypertensive (SHR), and stroke-prone spontaneously hypertensive (SHRSP) rat strains also display increased absorption and decreased elimination of dietary plant sterols. To determine if the genes responsible for sitosterolemia in humans are also responsible for phytosterolemia in rats we sequenced the Abcg5 and Abcg8 genes in WKY inbred, SHR, and SHRSP rat strains. All three strains possessed a homozygous guanine to thymine transversion in exon 12 of the Abcg5 gene that results in the substitution of a conserved glycine residue for a cysteine amino acid in the extracellular loop between the fifth and sixth membrane-spanning domains of the ABC half-transporter, sterolin-1. The identification of this naturally occurring mutation confirms that these rat strains are important animal models of sitosterolemia in which to study the mechanisms of sterol trafficking.


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