Localization of a feline autosomal dominant dwarfism locus: a novel model of chondrodysplasia
| Autor: | Joan R. Coates, Leslie A. Lyons, Robert A. Grahn, John R. Middleton, Barbara Gandolfi, N.A. Villani, Derek B. Fox, Michael J. Hamilton, S.T. Sellers, Lisa G. Britt, Reuben M. Buckley, Kari L. Chesney, S. Pfleuger |
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| Rok vydání: | 2019 |
| Předmět: |
musculoskeletal diseases
Whole genome sequencing Genetics congenital hereditary and neonatal diseases and abnormalities 0303 health sciences CATS endocrine system diseases 040301 veterinary sciences Dwarfism Locus (genetics) 04 agricultural and veterinary sciences Biology medicine.disease Phenotype 0403 veterinary science Disproportionate dwarfism 03 medical and health sciences medicine Gene 030304 developmental biology Genetic association |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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