Polymorphisms in the HLA-linked Olfactory Receptor Genes in the Hutterites

[I2a1a]

ABSTRACT: Genes in the MHC have been associated with mate choice and odor preferences in a variety of
animals. Although the role of HLA genes in human mate choice has been controversial, studies in the Hutterites
have demonstrated fewer than expected numbers of couples who match for an HLA haplotype, suggesting that in this population there is avoidance of mates with HLA haplotypes similar to one’s own haplotype. Recently, 18 olfactory receptor (OR) genes have been mapped to the HLA region, telomeric to the HLA-F locus, providing a potential mechanism for HLA-based odor recognition and perhaps mate preferences in humans. We screened a sample of Hutterites with diverse HLA haplotypes for polymorphisms
in the HLA-linked olfactory receptor gene, FAT11, by sequencing, denaturing high performance liquid
chromatography, and allele-specific oligo dot-blotting.
Three single nucleotide polymorphisms were detected in the single translated exon of this gene, all of
which resulted in amino acid substitutions (Phe587Leu,Ala642Val, and Thr1157Ala). The FAT11 Phe587-
Val642-Ala1157 allele occurred on 17 different HLA haplotypes, the Leu587-Ala642-Ala1157 allele on 15
haplotypes, the Phe587-Ala642-Ala1157 allele on 16 haplotypes, and the Phe587-Ala642-Thr1157 allele on a
single haplotype. Thus, four alleles of the FAT11 gene are present in the Hutterites. This level of variation in the FAT11 gene alone may not be sufficient to contribute to the observed patterns of mate choice in the Hutterites and to individual variation in odor preferences. Human Immunology
61, 711–717 (2000). © American Society for
Histocompatibility and Immunogenetics, 2000. Published
by Elsevier Science Inc.
KEYWORDS: olfactory receptor; HLA; FAT11; GTPcoupled
7-transmembrane domain receptor protein; polymorphism