Physiol. Res. 52: 141-146, 2003


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

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

Reprint 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:

© 2003 by the Institute of Physiology, Czech Academy of Sciences