Phenotypes

Charlier et al. (2016): nonsense (stop-gain) p.Arg527∗

Flisikowski et al. (2010) described a Finnish Ayrshire bull with an incidence of almost 50% of late abortion/stillbirth in his progeny. A half-sib linkage analysis with the BovineSNP50 BeadChip implicated the maternally imprinted PEG3 domain on chromosome BTA18. Genes in this region are not expressed when inherited from the female parent. Close examination of this region disclosed that this bull was heterozygous for a 110 kb deletion in the MI...

By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Kunieda et al. (1999) identified a missense mutation (A to G) in the bovine LYST gene, producing an amino-acid substitution of histidine to arginine (H2015R) in the resultant peptide.

Murgiano et al. (2015) investigated a family of Pezzata Rossa cattle with 4 affected cows. The pedigree was suggestive of X-linked semi-dominant inheritance with lethality in hemizygous mutant males. Two autosomal segments on chromosome 7 and 14 also showed positive LOD scores in a linkage analysis and could not definitively be excluded. Whole genome sequencing of one affected cow at 28x coverage and comparison to the 1000 bull genomes' sequen...

Hiltpold et al. (2022) investigated a Brown Swiss bull with low semen quality: "The genome of this bull was sequenced at a 12× coverage to investigate a possible genetic cause. Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. This 1-bp deletion causes a f...