In collaboration with ALLICE, the François-Jacob Institute at CEA and VetAgroSup, an international team led by INRA has shown that, in bovine, the study of mutations responsible for rare syndromes also found in humans is an interesting alternative to laboratory animals for confirmation of the genetic origin of these diseases and determination of the underlying molecular mechanisms.
In particular, the researchers performed clinical examinations and observed perfect genotype-phenotype correlations between bovine cases and human patients with mutations in the same domains of the same proteins, demonstrating that the cow could be a relevant model to study genetic abnormalities in humans. They also provide evidence that the bovine model, in some cases, may be more relevant than the murine model, which sometimes expresses attenuated phenotypes.
This result was the subject of a press release.