A golden retriever with the mutation for Duchenne muscular dystrophy was found to have working muscles because of a compensatory mutation in another gene.
The dog, Ringo, was bred by researchers to have the mutated version of a protein called dystrophin, but he still had normal muscles. Louis Kunkel at Boston Children's Hospital in Massachusetts, Mayana Zatz at the University of São Paulo in Brazil and their team analysed the genomes of Ringo and one of his male offspring that also had the mutation and normal muscles. They identified a separate mutation in a development gene, Jagged1, that resulted in higher levels of Jagged1 in Ringo and his son than in 31 affected dogs.
This mutation may compensate for the muscle-regeneration problems caused by a lack of dystrophin, the authors suggest.
Cell http://doi.org/87s (2015)
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Dog saved from muscular disease. Nature 527, 279 (2015). https://doi.org/10.1038/527279a