Genetic heterogeneity of day blindness in Alaskan Malamutes

Seddon, J. M., Hampson, E. C. G. M., Smith, R. I. E. and Hughes, I. P. (2006) Genetic heterogeneity of day blindness in Alaskan Malamutes. Animal Genetics, 37 4: 407-410. doi:10.1111/j.1365-2052.2006.01484.x

Author Seddon, J. M.
Hampson, E. C. G. M.
Smith, R. I. E.
Hughes, I. P.
Title Genetic heterogeneity of day blindness in Alaskan Malamutes
Journal name Animal Genetics   Check publisher's open access policy
ISSN 0268-9146
Publication date 2006
Sub-type Article (original research)
DOI 10.1111/j.1365-2052.2006.01484.x
Volume 37
Issue 4
Start page 407
End page 410
Total pages 4
Place of publication Oxford
Publisher Blackwell Publishing
Collection year 2006
Language eng
Subject CX
0707 Veterinary Sciences
Abstract Day blindness is a progressive and specific degeneration of cone photoreceptors in the retina of young dogs. This disorder has been associated with a breed-specific non-synonymous substitution in exon 6 of the cyclic nucleotide gated channel beta 3 (CNGB3) gene in German Shorthaired Pointer dogs and a genomic deletion removing the entire gene in Alaskan Malamute dogs from the USA. To further investigate this disorder, we characterized CNGB3 in a three-generation pedigree of Alaskan Malamute dogs from Australia segregating for day blindness. Fifteen of the dogs showed clinical signs of day blindness. Four of these were definitively diagnosed by standardized electroretinography. Polymerase chain reaction amplification of exon 6 of CNGB3 was attempted, and as expected, amplification was successful in the 18 unaffected or carrier dogs. However, a non-mutated exon 6 was also amplified and sequenced in six of the 15 affected dogs. On sequencing each exon and exon/intron boundary in two such affected individuals and two unaffected individuals, three exonic substitutions and 12 intronic changes were noted. These sequence variations in affected individuals were also present in one or both unaffected dogs and so appear to have no obvious effect on the protein's function. Hence, day blindness shows genetic heterogeneity within the Alaskan Malamute population of Australia, a result that is somewhat unexpected given the relatively small effective population size of this breed.
Keyword Agriculture, Dairy & Animal Science
Genetics & Heredity
cone degeneration
day blindness
Cone Degeneration
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Veterinary Science Publications
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Citation counts: TR Web of Science Citation Count  Cited 12 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 12 times in Scopus Article | Citations
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Created: Wed, 17 Oct 2007, 15:00:07 EST