A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle.

BACKGROUND: Low birth weight and postnatal growth restriction are the most evident symptoms of dwarfism. Accompanying skeletal aberrations may compromise the general condition and locomotion of affected individuals. Several paternal half-sibs with a low birth weight and a small size were born in 2013 in the Fleckvieh cattle population. RESULTS: Affected calves were strikingly underweight at birth in spite of a normal gestation length and had craniofacial abnormalities such as elongated narrow heads and brachygnathia inferior. In spite of a normal general condition, their growth remained restricted during rearing. We genotyped 27 affected and 10,454 unaffected animals at 44,672 single nucleotide polymorphisms and performed association tests followed by homozygosity mapping, which allowed us to map the locus responsible for growth failure to a 1.85-Mb segment on bovine chromosome 3. Analysis of whole-genome re-sequencing data from one affected and 289 unaffected animals revealed a 1-bp deletion (g.15079217delC, rs723240647) in the coding region of the GON4L gene that segregated with the dwarfism-associated haplotype. We showed that the deletion induces intron retention and premature termination of translation, which can lead to a severely truncated protein that lacks domains that are likely essential to normal protein function. The widespread use of an undetected carrier bull for artificial insemination has resulted in a tenfold increase in the frequency of the deleterious allele in the female population. CONCLUSIONS: A frameshift mutation in GON4L is associated with autosomal recessive proportionate dwarfism in Fleckvieh cattle. The mutation has segregated in the population for more than 50 years without being recognized as a genetic disorder. However, the widespread use of an undetected carrier bull for artificial insemination caused a sudden accumulation of homozygous calves with dwarfism. Our findings provide the basis for genome-based mating strategies to avoid the inadvertent mating of carrier animals and thereby prevent the birth of homozygous calves with impaired growth.

Monitoring of changes in selenium concentration in goat milk during short-term supplementation of various forms of selenium.

The goal of the experiment was to monitor the changes in the selenium concentration in goat milk during short-term oral supplementation of three different forms of selenium. The experiment involved 24 lactating goats of white shorthaired breed. Group C was the control; group S received selenium in the form of selenium-enriched yeast, group L in the form of lactate, and group B in the form of proteinate. Individual selenium preparations were administered individually orally in 250 microg Se dose per animal for 20 days. After the beginning of selenium supplementation, the selenium concentration in milk during the first 5 days grew gradually in group S. Between days 7 and 20 of Se supplementation, the mean Se concentrations in milk in groups were 12.53 +/- 3.69 microg l(-1) (C), 25.90 +/- 6.30 microg l(-1) (S), 13.14 +/- 3.54 microg l(-1) (L), 11.70 +/- 3.69 microg l(-1) (B). Differences between group S and other groups (C, B, L) were highly significant (p < 0.0001). Based on our results, selenium in the form of lactate and proteinate was excreted into the milk similarly, but selenium in the form of yeast, which contains high amount of selenomethionine, was excreted by milk in the highest amounts.