Phenotypes

In a remarkable indication of the power of whole-genome sequence analysis, Daetwyler et al. (2014) identified a causal mutation for this disorder in Holstein Friesian cattle as a missense mutation (g.32475732G>A [UMD3.1 reference sequence]; p.Gly960Arg, omia.variant:223) in the COL2A1 gene (which encodes the alpha-1 chain of type II collagen), by comparing the sequence of only two affected calves with sequence from bulls in the 1000-bull-ge...

Vaiman et al. (2022): "The genome of two affected animals was sequenced ... . ... two fully linked mutations in exon 24 of the MYH3 (myosin heavy chain) gene were detected: a 1-bp non-synonymous substitution (BTA19:g.29609623A>G) and a 11-bp frameshift deletion (BTA19:g.29609605-29609615del). These two mutations were specific to the Limousine breed, with an estimated allele frequency of 2.4% and are predicted to be deleterious. ... mRNA and...

By sequencing the most likely functional positional candidate gene from the mapped region (see Mapping section), Littlejohn et al. (2014) identified a causal mutation as a "nonsynonymous SNP in exon 5 [that] encodes a p.Cys221Gly substitution highly conserved across vertebrates and other structurally related hormones, disrupting one of three disulphide bonds defining the three-dimensional (3D) structure of mature prolactin hormone" (ss10672894...

Sonstegard et al (2013) investigated the lethal Jersey haplotype, namely haplotype JH1 on chromosome BTA15 (see Mapping section). They first refined the haplotype "to a 15-marker window (15,162,470 to 15,949,175)" and then obtained whole-genome sequence from 11 bulls carrying this haplotype. Analysis of the sequence of these carriers in the candidate region revealed a "high-impact stop-gain SNP located at position 15,707,169 on BTA15. This C-t...