Polydactyly (Great Pyrenees Type)
Affected Genes: ALX4
Inheritance: Autosomal Dominant
Variant(canFam6):
chr18:43590769-43590819: 51 bp deletion
Breed: Great Pyrenees
General Information: Polydactyly in Great Pyrenees, also known as bilateral double hindlimb polydactyly, is characterized by the presence of extra digits on the hind limbs. This trait is caused by a specific variant in the ALX4 gene, which results in the development of double hind dewclaws. Dogs affected by this trait typically exhibit no health problems related to the additional digits, but the trait is a distinct feature of the breed. Most Great Pyrenees carry one or two copies of this mutation, leading to the prevalence of this trait within the breed.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Possibly Affected
No Variants Detected: No Effect
Gene / Testing Information: The ALX4 gene responsible for the Great Pyrenees type polydactyly can be identified through genetic testing, which detects the specific 51 bp deletion associated with the condition. This testing is essential for breeders aiming to manage and predict the occurrence of polydactyly in their litters. By understanding the genetic status of breeding pairs, breeders can make informed decisions to either propagate or limit the presence of this trait, depending on their breeding goals and breed standards. Genetic testing ensures that breeders maintain the desired characteristics and health standards within the breed.
References:
Fondon JW 3rd, Garner HR. Molecular origins of rapid and continuous morphological evolution. Proc Natl Acad Sci USA. 2004 101(52):18058-18063.
Park K, Kang J, Subedi KP, Ha JH, Park C. Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. Genetics. 2008 179(4):2163-2172.