Short communication: Lethal mutations in Vorderwald cattle through Montbéliarde incrossings

Vorderwald cattle are a dual-purpose cattle breed with high migrant contributions from Montbéliarde bulls in the recent past. Through the wide use of Montbéliarde bulls, undesirable alleles were also disseminated into the Vorderwald population. Haplotypes on bovine chromosome 19 (MH1) and 29 (MH2), supposed to harbor lethal mutations, were identified in Montbéliarde cattle. A study in French Montbéliarde cattle identified the PFAS:g.28511199C>T (rs455876205) variant as the most likely MH1 embryonic lethal mutation. The objective of the present study was to determine whether the PFAS:g.28511199C>T variant was introduced into Vorderwald cattle through Montbéliarde bulls and disseminated in this population. The present study expands on previous work on the deleterious SLC37A2 variant (ss2019324563) of the MH2 locus. Herein, we traced the ss2019324563 variant back to the Montbéliarde bull, which was the most likely source for this deleterious mutation in Vorderwald cattle. We genotyped 354 Vorderwald cattle for the PFAS variant, resulting in 41 heterozygous individuals and a T allele frequency of 0.058. An aborted fetus homozygous mutant for SLC37A2 from our previous study on the MH2 locus in Vorderwald cattle was wild type for the PFAS variant. Both lethal mutations were segregating independently of each other, and we found no indications of joint occurrence in a larger number of animals. Neither SLC37A2 nor PFAS double heterozygous mutants were lethal. The earliest animal with a heterozygous PFAS genotype was 1 of 5 migrant Montbéliarde bulls, and this bull was the most likely origin of the deleterious PFAS allele in Vorderwald cattle. All Vorderwald cattle under study born before introgression of this Montbéliarde bull were homozygous wild type. In addition, all 41 heterozygous Vorderwald cattle had genetic contributions from this Montbéliarde bull, whereas in 74 Vorderwald cattle without genes from Montbéliarde bulls, the PFAS T allele was not observed. In a sample of actual German Fleckvieh the PFAS T allele could be found at a very low frequency. Our study demonstrated the introgression of lethal variants through Montbéliarde bulls into a traditional cattle breed highly adapted to harsh local conditions. These findings underline the need to screen bulls for lethal mutations before their wide use in breeding, particularly in breeds with a focus on preservation of their genetic uniqueness.