02400-MOU: Basis of Dwarfism in Great Pyrenees
Grant Status: Open
Great Pyrenees dwarfism is not fatal, but is a chondrodysplasia first scientifically described in the mid-1990s. Pups appeared normal at birth, but within two weeks were shorter and smaller than their non-dwarf littermates. This form of dwarfism is not due to hormonal imbalances. Pedigree analysis suggests that it is inherited in an autosomal recessive fashion, and is potentially caused by a single gene. Dogs suspected to be carriers for this condition have normal proportions. The specific underlying genetic cause and the true prevalence of this condition within the breed is unknown. The investigators hypothesize that dwarfism in Great Pyrenees dogs has a genetic basis in which whole genome scans with DNA markers can identify a small chromosomal region that will contain a dwarfism-associated gene, and that high-throughput DNA sequencing will identify the causative mutation(s). The goal is to determine the frequency of the DNA variant in the breed, and to develop and provide a genetic test to inform breeding decisions, and eventually aid in eradicating this disorder from the breed.
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