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Related Experiment Videos

The FIC1 gene: structure and polymorphisms in baboon.

Laura A Cox1

  • 1Southwest Foundation for Biomedical Research, Department of Genetics, San Antonio, TX 78245-0549, USA. lcox@darwin.sfbr.org

Journal of Medical Primatology
|June 22, 2002
PubMed
Summary

Researchers identified a major quantitative trait locus (QTL) on baboon chromosome 18 influencing high-density lipoprotein cholesterol (HDL-C). The familial intrahepatic cholestasis gene 1 (FIC1) was investigated as a candidate gene for this HDL-C QTL.

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Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Metabolic Disorders

Background:

  • High-density lipoprotein cholesterol (HDL-C) levels are critical risk factors for atherosclerosis.
  • Quantitative trait loci (QTL) analysis is a powerful tool for identifying genetic influences on complex traits.
  • The familial intrahepatic cholestasis gene 1 (FIC1) is a biologically plausible candidate for regulating HDL-C due to its role in bile acid synthesis.

Purpose of the Study:

  • To identify and localize QTLs associated with lipoprotein phenotypes in baboons.
  • To investigate the role of the FIC1 gene in HDL-C regulation.
  • To explore genetic variation in baboon FIC1 and its potential link to human cholestasis disorders.

Main Methods:

  • Genome scan in 648 pedigreed baboons to detect QTLs for lipoprotein phenotypes.

Related Experiment Videos

  • Localization of a major QTL for HDL-C related phenotypes on chromosome 18q.
  • Cloning and sequencing of baboon FIC1 cDNA.
  • Analysis of single nucleotide polymorphisms (SNPs) and dinucleotide repeats in baboon FIC1.

    • Main Results:

    • A significant QTL influencing HDL-C phenotypes was identified on baboon chromosome 18q.
    • Baboon FIC1 cDNA was cloned and found to be highly conserved with human FIC1.
    • Genetic variations, including SNPs and a dinucleotide repeat, were identified in baboon FIC1.
    • No baboon FIC1 SNPs matched known human mutations associated with intrahepatic cholestasis.

    Conclusions:

    • The study identified a major genetic locus on baboon chromosome 18 influencing HDL-C.
    • FIC1 is a strong candidate gene for this HDL-C QTL, supported by its conservation and identified polymorphisms.
    • Baboon FIC1 variations do not appear to be directly linked to the human FIC1-associated cholestasis disorders.