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bioRxiv · 10.1101/687210

Localization of a feline autosomal dominant dwarfism locus: a novel model of chondrodysplasia

Lyons, L. A.·Fox, D. B.·Chesney, K. L.·Britt, L. G.·Buckley, R. M.·Coates, J. R.·Gandolfi, B.·Grahn, R. A.·Hamilton, M. J.·Middleton, J. R.·Sellers, S. T.·Villani, N. A.·99 Lives Consortium,
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Abstract

Despite the contribution of a few major genes for disproportionate dwarfism in humans, many dwarf patients are yet genetically undiagnosed. In domestic cats, disproportionate dwarfism has led to the development of a defined breed, the Munchkin or Minuet. This study examined the genetic aspects of feline dwarfism to consider cats as a new biomedical model. DNA from dwarf cats was genetically analyzed using parentage, linkage, and genome-wide association studies as well as whole genome sequencing. Each genetic approach localized the dwarfism phenotype to a region on cat chromosome B1. No coding variants suspected as causal for the feline dwarfism were identified but a critical region of [~]5.7 Mb from B1:170,278,183-175,975,857 was defined, which implicates a novel gene controlling disproportionate dwarfism. A yet unidentified but novel gene variant, likely structural or regulatory, produces disproportionate dwarfism in cats, which may define undiagnosed human patients.

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Lyons, L. A., Fox, D. B., Chesney, K. L., Britt, L. G., Buckley, R. M., Coates, J. R., Gandolfi, B., Grahn, R. A., Hamilton, M. J., Middleton, J. R., Sellers, S. T., Villani, N. A., 99 Lives Consortium,. 2019-07-08. Localization of a feline autosomal dominant dwarfism locus: a novel model of chondrodysplasia. https://doi.org/10.1101/687210

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