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A structural UGDH variant associated with standard Munchkin cats.
Ann-Kathrin Struck1, Marina Braun1, Kim Aline Detering1
1Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover (Foundation), 30559, Hannover, Germany.
BMC Genetics
|July 2, 2020
Summary
A specific gene variant in UGDH causes the characteristic short legs and dwarfism in standard Munchkin cats. This genetic mutation is likely an autosomal dominant trait, with homozygous states proving lethal.
Area of Science:
- Genetics
- Animal Genetics
- Canine and Feline Genetics
Background:
- Munchkin cats exhibit natural variations, including short-legged (standard) and long-legged (non-standard) types.
- The short-legged phenotype is characterized by disproportionate dwarfism (chondrodysplasia).
- Previous research linked this trait to a specific region on feline chromosome B1 using genome-wide single nucleotide polymorphisms (SNPs).
Purpose of the Study:
- To validate the critical genetic region associated with the Munchkin cat phenotype.
- To identify the specific genetic variant responsible for chondrodysplasia in Munchkin cats.
Main Methods:
- A case-control study involving 89 cats was conducted.
- Fourteen single nucleotide polymorphisms (SNPs) on feline chromosome B1 were analyzed.
- A structural variant within the UGDH gene was investigated.
Main Results:
- A structural variant in the UGDH gene on feline chromosome B1 was perfectly associated with the short-legged Munchkin cat phenotype.
- This variant (NC_018726.2:g.173294289_173297592delins108) was identified as the likely cause of chondrodysplasia.
Conclusions:
- The identified UGDH structural variant is strongly implicated in causing the chondrodysplastic phenotype in Munchkin cats.
- The absence of homozygous mutants and reduced litter sizes suggest a lethal autosomal recessive trait in the homozygous state.
- An autosomal dominant inheritance pattern is proposed for the chondrodysplastic condition in Munchkin cats.
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