Adrenocortical lipid depletion gene (ald) in AKR mice is associated with an acyl-CoA:cholesterol acyltransferase (ACAT) mutation.

The Journal of Biological Chemistry
V L MeinerR Farese

Abstract

ald, a recessive allele in AKR inbred mice, is responsible for complete adrenocortical lipid depletion in postpubertal males, which appears to be androgen dependent. Two recent observations (adrenocortical lipid depletion in acyl-CoA:cholesterol acyltransferase-deficient (Acact-/-) mice and the mapping of Acact to a region of chromosome 1 containing the ald locus) prompted us to ask whether adrenocortical lipid depletion in AKR mice results from an Acact mutation. Refined genetic mapping of Acact and ald was consistent with colocalization of these loci. Crossing Acact-/- with AKR (ald/ald) mice yielded postpubertal male offspring characterized by adrenocortical lipid depletion, indicating that these loci are not complementational and are therefore allelic. Immunoblotting of preputial gland homogenates demonstrated that AKR mice had an ACAT protein with a lower molecular mass than other mouse strains. Analysis of Acact cDNA from AKR mice revealed a deletion of the first coding exon and two missense mutations. Despite these coding sequence differences, the ACAT protein from the ald allele catalyzed cholesterol esterification activity at levels similar to that of wild-type protein. We speculate that the adrenocortical lipid deplet...Continue Reading

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Citations

Jan 18, 2011·The Journal of Clinical Endocrinology and Metabolism·Bruno Ferraz-de-SouzaJohn C Achermann
Jul 13, 2006·Journal of Lipid Research·Karen Reue, Laurent Vergnes
Oct 6, 2007·Arteriosclerosis, Thrombosis, and Vascular Biology·Susanna S WangAldons J Lusis
Mar 16, 2013·Arteriosclerosis, Thrombosis, and Vascular Biology·Peggy RobinetJonathan D Smith
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Apr 29, 1998·Current Opinion in Lipidology·R V Farese
Sep 7, 2001·The Journal of Biological Chemistry·K K BuhmanR V Farese

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The American Society for Biochemistry and Molecular Biology (ASBMB) includes the Journal of Biological Chemistry, Molecular & Cellular Proteomics, and the Journal of Lipid Research. Discover the latest research from ASBMB here.

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