Bautz1: Identification of a novel polymorphism in X-linked Nsdhl gene associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice (2013)

Bautz DJ, Broman KW, Threadgill DW. Identification of a Novel Polymorphism in X-Linked Sterol-4-Alpha-Carboxylate 3-Dehydrogenase (Nsdhl) Associated with Reduced High-Density Lipoprotein Cholesterol Levels in I/LnJ Mice. G3 (Bethesda). 2013 Oct 3;3(10):1819-1825. doi: 10.1534/g3.113.007567.   PubMed 23979938  

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Investigators D J Bautz
Karl W Broman       University of Wisconsin,  Madison, WI
Participants Threadgill DW
ContactKarl W Broman
Affiliated CenterQTL Archive
AcknowledgementsNational Institutes of Health grants CA079869 and GM074244 and fellowship CA145048
Project type QTL Archive data set
MPD identifiersBautz1     MPD:280
Data changelog No updates/corrections.       Initial release date: 10/2013.
Loci controlling plasma lipid concentrations were identified by performing a quantitative trait locus analysis on genotypes from 233 mice from a F2 cross between KK/HlJ and I/LnJ, two strains known to differ in their high-density lipoprotein (HDL) cholesterol levels. When fed a standard diet, HDL cholesterol concentration was affected by two significant loci, the Apoa2 locus on Chromosome (Chr) 1 and a novel locus on Chr X, along with one suggestive locus on Chr 6. Non-HDL concentration also was affected by loci on Chr 1 and X along with a suggestive locus on Chr 3. Additional loci that may be sex-specific were identified for HDL cholesterol on Chr 2, 3, and 4 and for non-HDL cholesterol on Chr 5, 7, and 14. Further investigation into the potential causative gene on Chr X for reduced HDL cholesterol levels revealed a novel, I/LnJ-specific nonsynonymous polymorphism in Nsdhl, which codes for sterol-4-alpha-carboxylate 3-dehydrogenase in the cholesterol synthesis pathway. Although many lipid quantitative trait locus have been reported previously, these data suggest there are additional genes left to be identified that control lipid levels and that can provide new pharmaceutical targets.

QTL data set parameters:
Progenitor strains I/LnJ     KK/HlJ    
Cross typeF2 reciprocal intercross
Population size 111 ♀     130 ♂

Measured phenotypes:       To access these data use the QTL Data Downloads button at bottom of page.

Associated genomic features
MGI-curated QTL / genomic features that have been associated with this data set:
Hdlq107   Hdlq108   Nhdlq17  

Project / data set:   Bautz1     a.k.a. Bautz_2013
Excel file:   Data_Description_Bautz_2013.xlsx
CSV file:   Bautz_2013.csv
QC plots, figures, etc.:   QCReport_Bautz_2013.pdf