Farp2 and Stk25 are candidate genes for the HDL cholesterol locus on mouse chromosome 1.
Document Type
Article
Publication Date
2009
Keywords
Animals, Atherosclerosis, Cholesterol-HDL, Chromosome-Mapping, Chromosomes-Mammalian, Crosses-Genetic, Diet-Atherogenic, Disease-Models-Animal, Genotype, Guanine-Nucleotide-Exchange-Factors, Intracellular-Signaling-Peptides-and-Proteins, Lipoproteins-HDL, Mice-Inbred-C57BL, Mice-Inbred-Strains, Phenotype, Polymorphism-Genetic, Protein-Serine-Threonine-Kinases, Quantitative-Trait-Loci
First Page
107
Last Page
113
JAX Location
see Reprint Collection (a pdf is available)
JAX Source
Arterioscler Thromb Vasc Biol 2009 Jan; 29(1):107-13.
Abstract
OBJECTIVE: To identify the gene responsible for the quantitative trait locus (QTL) Hdlq14, a high-density lipoprotein cholesterol (HDL) QTL previously identified in a C57BL/6Jx129S1/SvImJ cross. METHODS AND RESULTS: Hdlq14 was first confirmed as an independent QTL by detecting it in an intercross between NZB/B1NJ and NZW/LacJ, 2 strains that had identical genotypes at nearby QTL genes on chromosome 1. Using the bioinformatics tools of combined cross data and haplotype analysis, we narrowed this QTL from a 45-Mb 225-gene region to 2 genes, Farp2 and Stk25. Sequencing and expression studies showed that Farp2 had an amino acid polymorphism in an important plekstrin domain and that Stk25 had a significant expression difference between the parental strains. These 2 genes are immediately adjacent to each other and share the same haplotype over 45 inbred strains. The haplotype was associated with a significant difference in HDL levels among these strains. CONCLUSIONS: We confirmed Hdlq14 as a separate independent QTL for HDL and narrowed the region to 2 genes, Farp2 and Stk25, with considerable evidence for both. Additional studies are needed to choose between these 2 genes or to show that both are important in determining HDL levels.
Recommended Citation
Su Z,
Cox A,
Shen Y,
Stylianou IM,
Paigen B.
Farp2 and Stk25 are candidate genes for the HDL cholesterol locus on mouse chromosome 1. Arterioscler Thromb Vasc Biol 2009 Jan; 29(1):107-13.