Biochemical Genetics

, Volume 42, Issue 9–10, pp 347–363 | Cite as

Quantitative Trait Locus Analysis of Plasma Cholesterol and Triglyceride Levels in C57BL/6J × RR F2 Mice

  • Jun-ichi Suto
  • Yuji Takahashi
  • Kenji Sekikawa


A highly significant cholesterol quantitative trait locus (QTL) (Cq6) was identified on chromosome 1 in C57BL/6J × RR F2 mice. The Cq6 was located over the gene for apolipoprotein A-II (Apoa2), and the RR allele was associated with increased plasma cholesterol. C57BL/6J has Apoa2a alleles and RR has Apoa2b alleles. Three different Apoa2 alleles are known on the basis of amino acid substitutions at four residues. Analysis with partial Apoa2 congenic strains possessing Apoa2a, Apoa2b, and Apoa2c alleles revealed that the Apoa2b allele is unique in the ability to increase cholesterol among the three Apoa2 alleles, and that the Ala-to-Val substitution at residue 61 may be crucial as far as cholesterol metabolism is concerned. We also investigated the question of whether the Apoa1 gene is responsible for the cholesterol QTLs (Cq4 and Cq5) that had been identified previously on chromosome 9 in C57BL/6J × KK-Ay/a F2 and in KK × RR F2, but not in C57BL/6J × RR F2 mice. Similar to Apoa2 alleles, three different Apoa1 alleles with two successive amino acid substitutions were revealed among the strains. However, we could not correlate Apoa1 polymorphisms with the occurrence of QTLs in these three sets of F2 mice.

quantitative trait locus (QTL) cholesterol triglyceride apolipoprotein A-I (Apoa1apolipoprotein A-II (Apoa2


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Copyright information

© Springer Science+Business Media, Inc. 2004

Authors and Affiliations

  1. 1.Department of Molecular Biology and ImmunologyNational Institute of Agrobiological SciencesTsukubaJapan
  2. 2.Department of Production DiseasesNational Institute of Animal HealthTsukubaJapan
  3. 3.Department of Molecular Biology and ImmunologyNational Institute of Agrobiological SciencesTsukubaJapan

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