PMID: 9556295Apr 29, 1998Paper

Identification of a mutation in the low density lipoprotein receptor gene associated with recessive familial hypercholesterolemia in swine

American Journal of Medical Genetics
J Hasler-RapaczJ Rapacz

Abstract

Elevated blood plasma cholesterol (hypercholesterolemia) is a major risk factor for coronary artery disease (CAD) in humans. Genetic dissection of polygenic lipid and lipoprotein disorders in swine, a key animal model for the study of familial hypercholesterolemia (FH) and CAD, led to the isolation of a monogenic subphenotype (FH-r), that is inherited in the recessive (r) manner. A genome scan mapped the FH-r locus close to the centromere of chromosome 2. Comparative mapping showed that this region shares homology with a part of human chromosome 19 that harbors the low density lipoprotein receptor (LDLR) locus, and therefore suggested LDLR as the prime candidate gene for FH-r. Cloning and sequencing of hepatic LDLR cDNA from two FH-r/r and one normal (N/N) animals disclosed a single missense mutation (R84C) in a region that corresponds to human exon 4. The C84 mutation cosegregates invariantly with hypercholesterolemia, which strongly suggests that this mutation is responsible for the observed hyperlipidemia.

Citations

Jul 12, 2013·Journal of Diabetes Research·Damir Hamamdzic, Robert L Wilensky
Mar 20, 2008·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Eveline M Ibeagha-AwemuXin Zhao
Nov 26, 2008·Ultrasound in Medicine & Biology·Russell H BehlerCaterina M Gallippi
Aug 10, 2011·International Journal of Inflammation·Krista L SiderCraig A Simmons
Aug 26, 2011·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Kyle S McCommisChristopher P Baines
Nov 26, 2013·Journal of Vascular and Interventional Radiology : JVIR·Islam A ShehataEmad S Ebbini
Feb 26, 2016·Cell Biochemistry and Function·H G TsangV E MacRae

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