Phenotypes

Armed with the knowledge that TYRP1 in Dexter cattle is a strong positional candidate gene for the dun phenotype (see Mapping section above), Berryere et al. (2003) showed that dun brown coat colour in Dexter cattle is due to homozygosity for a H434Y amino acid substitution in TYRP1, due to "a C to T change in nucleotide 1300 within exon 7" of the TYRP1 gene. [FN 10 Sep 2005; 21 Sep 2012]. See also OMIA:001821-9913 : Coat colour, albinism, ocu...

Gutiérrez-Gil et al. (2007): c.64G>A Jolly et al. (2008): c.50_52delTTC Laible et al. (2021): "To better adapt dairy cattle to rapidly warming climates, we aimed to lighten their coat color by genome editing. ... Using gRNA/Cas9-mediated editing, we introduced a three bp deletion in the pre-melanosomal protein 17 gene (PMEL) proposed as causative variant for the semi-dominant color dilution phenotype observed in Galloway and Highland cattl...

By whole-genome sequencing a single affected Charolais calf, and concentrating on comparative functional candidate genes based on careful diagnosis, Peters et al. (2015) identified the causative mutation to be "a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene. The authors noted that "The transcript of the mutant allele lacked information regarding a significant part of the encoded protein since the deletion led to a frameshift and...

Häfliger et al. (2021) investigated “the two Braunvieh populations reared in Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We performed a genome-wide analysis of array data of trios (sire, dam, and offspring) from the routine genomic selection to identify candidate regions showing missing homozygosity and phenotypic associations with five fertility, ten birth, and nine growth-related traits. In addition,...

Jacinto et al. (2023): "A trio whole-genome sequencing approach [of an affected 5 month old Wagyu calf and its parents] identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%."

In a conference abstract, Marron and Beever (2012) reported the causal mutation of hypotrichosis in Belted Galloway cattle to be "an A1684T substitution in exon 9 of hephaestin-like 1 (HEPHL1) resulting in a premature stop codon (K562X)". They further noted that "Hephaestin-like 1 is responsible for copper ion transport. Copper deficiency has been shown to cause anemia, poor immune function, slower growth rates and discolored or poor hair coat...

Bourneuf et al. (2017) detected ITGA3 g.37219021G>A; p.T252M as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Holstein AI bull. No information was provided on the descendants of this bull.

Bourneuf et al. (2017) detected SOWAHB g.93487577G>T; p.Q379K as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Charolais AI bull. No information was provided on the descendants of this bull.

The double-muscle trait in cattle is characterised by an increase in muscle mass of approx 20%, resulting in substantially higher meat yield, a higher proportion of expensive cuts of meat, and lean and very tender meat, for which a substantial premium is paid. The trait is autosomal recessive, and the locus has been given the symbol mh. It occurs at such a high frequency in Piedmontese and Belgian Blue cattle that it is characteristic of these...