In other species: Mallard , taurine cattle , Japanese quail

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602079 (trait) , 136132 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0018767: severe primary trimethylaminuria

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2005

Species-specific name: Fishy taint of eggs

Mapping: By genotyping pools (n=20) of tainting and non-tainting members within each of five half-sib families segregating this trait, with 119 microsatellite markers covering 25 linkage groups, Honkatukia et al. (2005) conducted a genome scan for this trait. After genotyping the four most-likely linkage groups with additional microsatellites, these authors had narrowed the field down to just one linkage group, corresponding to chromosome GGA8. Then, utilising an intronic SNP between exons 5 and 7 of the obvious (comparative) candidate gene, namely FMO3, and the same markers as used previously to map the trait, Honkatukia et al. (2005) showed that this gene "maps 5 cM (Kosambi, sex-averaged) distal to the end (MCW275) of our microsatellite linkage map of GGA8". They then showed that there is zero recombination between the trait and FMO3.

Molecular basis: By sequencing the highly-likely comparative and positional candidate gene (FMO3), Honkatukia et al. (2005) showed that this disorder is due to a 1034A>T base substitution in the FMO3 gene, leading to a T329S amino-acid substitution.

Associated gene: