A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs

The first white Doberman pinscher (WDP) dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring. The WDP phenotype closely resembles human oculocutaneous albinism (OCA) and clinicians noticed a seem...

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Bibliographic Details
Published in:PloS one 2014-03, Vol.9 (3), p.e92127
Main Authors: Winkler, Paige A, Gornik, Kara R, Ramsey, David T, Dubielzig, Richard R, Venta, Patrick J, Petersen-Jones, Simon M, Bartoe, Joshua T
Format: Article
Language:English
Subjects:
Albinism
Albinism, Oculocutaneous - genetics
Albinism, Oculocutaneous - pathology
Albinism, Oculocutaneous - veterinary
Analysis
Animals
Base Sequence
Biology and Life Sciences
Breeding
Color
Color vision
Deafness
DNA Mutational Analysis
DNA polymerases
DNA, Complementary - genetics
Dog Diseases - genetics
Dog Diseases - pathology
Dogs
Electrophoresis, Agar Gel
Epithelium
Exons - genetics
Female
Gene Deletion
Gene mutation
Gene sequencing
Genes
Genetic aspects
Humans
Linkage Disequilibrium - genetics
Male
Membrane Transport Proteins - genetics
Microsatellite Repeats - genetics
Molecular Sequence Data
Mutation
Neoplasms
Offspring
Phenotype
Polymerase Chain Reaction
Retina
Retinal pigment epithelium
RNA-directed DNA polymerase
Transcription
Tumors
Veterinary colleges
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Summary:The first white Doberman pinscher (WDP) dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line breeding of this dog and her offspring. The WDP phenotype closely resembles human oculocutaneous albinism (OCA) and clinicians noticed a seemingly high prevalence of pigmented masses on these dogs. This study had three specific aims: (1) produce a detailed description of the ocular phenotype of WDPs, (2) objectively determine if an increased prevalence of ocular and cutaneous melanocytic tumors was present in WDPs, and (3) determine if a genetic mutation in any of the genes known to cause human OCA is causal for the WDP phenotype. WDPs have a consistent ocular phenotype of photophobia, hypopigmented adnexal structures, blue irides with a tan periphery and hypopigmented retinal pigment epithelium and choroid. WDPs have a higher prevalence of cutaneous melanocytic neoplasms compared with control standard color Doberman pinschers (SDPs); cutaneous tumors were noted in 12/20 WDP (5 years of age: 8/8) and 1/20 SDPs (p
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0092127