Phenotypes

Jacinto et al (2025) investigated two half-sib Angus calves with chondrodysplasia leading to primordial disproportionate dwarfism in a whole genome sequencing approach: "Assuming a dominant MOI [mode of inheritance], a heterozygous pathogenic missense variant was found in exon 6 of PRDM10 leading to an amino acid exchange in PRDM10 at position 289, located in the PR-SET domain (Chr29:g.36138136G > A; c.866C > T; p.Pro289Leu) [omia.varian...

In a textbook example of how to make use of clinical information to identify a comparative candidate gene (based on the homologous human disorder) namely KRT5 (keratin 5), Ford et al. (2005) showed that this disorder in the offspring of a Friesian-Jersey bull is due to a 4051G>A base substitution in the bovine KRT5 gene, leading to an E478K amino-acid substitution. The bull turned out to be mosaic for a de novo mutation. Jacinto et al. (202...

The absence of horns (polledness) is of substantial benefit in cattle, from an economic and welfare point of view: bruising due to horns is eliminated, and the stress associated with de-horning is avoided. (Information complied by Ulrika Tjälldén and Vanja Kinch, Uppsala, March 1998). In addition to naturally occurring variants for this trait, variants have been created artificially: Genetically-modifed organism; GMO.

In a neat piece of comparative detective work, Lunden et al. (2002; Genome Research 12:1885-1888) investigated whether the fishy off-flavour occasionally reported in cow's milk could be an animal model of fish-odor syndrome in humans, an inborn error of metabolism characterised by a fishy body odor, and known to be due to mutations in the gene for flavin-containing mono-oxygenase 3 (FMO3). They were able to show that this is, indeed, the case:...