MINIREVIEW
New Apolipoprotein A-V: Comparative Genomics Meets
Metabolism
O. ŠEDA1, 2, L. ŠEDOVÁ1, 2
1Institute of Biology and Medical
Genetics, First Faculty of Medicine, Charles University,
Prague, Czech Republic, 2Research Centre,
Centre Hospitalier de l’Université de Montreal, Montreal,
Quebec, Canada
Received
December 18, 2002
Accepted January 22, 2003
Summary
The availability of the human genome sequence and the recently
completed draft sequences of two major mammalian model species,
the mouse (Mus musculus) and the rat (Rattus norvegicus), allow
researchers to apply novel approaches for gene identification
and characterization, using methods of comparative and
functional genomics. Recently, a new gene coding for
apolipoprotein A-V was identified in the vicinity of APOA-I/C-III/A-IV
cluster on human chromosome 11q23 by comparative sequencing
method. In a relatively short time, compelling evidence
accumulated for the substantial role of APOA-V in lipid
metabolism. Studies in knock-out and transgenic mice revealed
that its expression pattern correlates negatively with
triglyceride levels. This observation was verified in human
population studies in variety of ethnic and age groups. Several
single nucleotide polymorphisms were described and particular
SNP alleles and haplotypes in the APO A-V gene region were shown
to be associated with dyslipidemia. The discovery and
characterization of the APO A-V demonstrates current
possibilities of the integrative approaches in biology, boosted
by the available bioinformatic tools.
Key
words
Apolipoprotein A-V • Comparative genomics • Triglyceride
• Genetic models • SNP
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requests
Dr. O. Šeda, Institute of Biology and Medical Genetics, First
Faculty of Medicine, Charles University, Albertov 4, 12800
Prague 2, Czech Republic. E-mail:
ondrej.seda@lf1.cuni.cz
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