International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)

Plenary Presentations * Oral Presentations *
Poster Presentations: Complex Genetics and Disease Modifiers * Developmental Genetics * Functional Genomics * Gene Discovery * Genetic Manipulations to Alter Gene Function * Mouse Models: Human Disease and Pharmacogenetics * Sequence Annotation and Comparative Analysis of Genomes *
Attendees * Sponsors * Table of Contents * Photographs * Awards

POSTER 106 - ASSOCIATION OF VARIANT SITES OF A TASTE RECEPTOR GENE (TAS1R3) WITH SACCHARIN PREFERENCE

X Li
Monell Chemical Senses Center

1) Bachmanov AA, 2) Li S, 1) Tordoff MG, 3) West DB, 3) Ohmen JD, 1) Beauchamp GK, 1) Reed DR
1) Monell Chemical Senses Center, 2) University Pennsylvania, 3) Pfizer Global Research and Development

Recent work suggests that the Tas1r3 is identical to the mouse saccharin preference (Sac) locus.  The goal of this study was to identify the sequence variant or variants most likely to account for the phenotype.  We sequenced ~6.7 kb of the Tas1r3 gene and flanking region of six inbred mouse strains selected for high and low saccharin preference, including the strains in which the Sac alleles were originally described (C57BL/6J, Sacb; DBA/2J, Sacd).  Sixty sequence variants were detected.  Of these sixty variants, there were eight sites in which all three high preferring strains had one variant and all three low preferring strains had the other.  Each of these variant sites were genotyped in twenty-four additional inbred mouse strains.  In most strains, these eight variant sites were found in only two configurations, the High and Low Preference haplotype.  In three inbred strains, the haplotypes were recombinant.  Analysis of the recombinant haplotypes suggested that the best match between the sequence variants and saccharin preference occurs at three sites:  nt -791 (3 bp deletion), nt +135 (Ser45Ser),  and nt +179 (Ile60Thr).  Experimental manipulation of these sites will be needed to determine which variant or group of variants account for the Sac phenotype.