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.
Footnotes
In memoriam, Leslie A. Lyons – lyonsla{at}missouri.edu, Derek B. Fox - foxdb{at}missouri.edu, Kari L. Chesney - chesneyk{at}mizzou.edu, Lisa G. Britt - lgb1991heart{at}gmail.com, Reuben M. Buckley – bucklyrm{at}missouri.edu, Joan R. Coates - coatesj{at}missouri.edu, Barbara Gandolfi – Barbara.Gandolfi{at}Idexx.com, Robert A. Grahn – ragrahn{at}ucdavis.edu, Michael J. Hamilton - mhami004{at}ucr.edu, John R. Middleton - middletonjr{at}missouri.edu, Samantha T. Sellers - ststgb{at}mail.missouri.edu, Natalie A. Villani - villanin{at}missouri.edu, Solveig Pfleuger – not available
