Validation of Deleterious Mutations in Vorderwald Cattle

Area of Science:

• Veterinary Genetics
• Animal Breeding
• Reproductive Biology

Background:

• Montbéliarde bulls were introduced into Vorderwald cattle to enhance production traits.
• Intensified use of specific Montbéliarde bulls led to increased inbreeding in Vorderwald cattle.
• Embryonic lethality was suspected in an aborted Vorderwald fetus.

Purpose of the Study:

• To determine if known deleterious mutations caused the abortion in Vorderwald cattle.
• To investigate the introduction of these mutations into the Vorderwald population via Montbéliarde sires.

Main Methods:

• Genotyping of an aborted fetus, its parents, and grandsires for two candidate mutations (SLC37A2 and SHBG).
• Screening of 341 Vorderwald cattle and additional breeds for the identified mutations.
• Haplotype analysis for MH2-haplotype linked to the SLC37A2 mutation.

Main Results:

• The aborted fetus was homozygous for the SLC37A2:g.28879810C>T mutation; parents and grandsires were heterozygous carriers.
• The SHBG:g.27956790C>T mutation was deemed unlikely to be the cause of abortion.
• The SLC37A2 mutation was absent in breeds without Montbéliarde influence and in Vorderwald cattle with Ayrshire ancestry.

Conclusions:

• The first documented case of homozygous SLC37A2:g.28879810C>T mutation causing embryonic lethality in cattle.
• Montbéliarde bulls are confirmed carriers and transmitters of this deleterious mutation into the Vorderwald population.