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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.

A heritable neurodegenerative disease of English Setters has long been studied as a model of human neuronal ceroid-lipofuscinosis (NCL). Megablast searches of the first build of the canine genome for potential causative genes located the CLN8 gene near the q telomere of canine chromosome 37, close to a marker previously linked to English Setter NCL. Sequence analysis of the coding region from affected dogs revealed a T-to-C transition in the CLN8 gene that predicts a p.L164P missense mutation. Leucine 164 is conserved in four other mammalian species. The C allele co-segregated with the disease phenotype in a two-generation English Setter family in a pattern consistent with autosomal recessive inheritance. All four NCL-affected family members were C/C homozygotes and all four obligate carriers were C/T heterozygotes; whereas, 103 unrelated dogs were all T/T homozygotes. These findings indicate that the CLN8 T-to-C transition is the likely cause of English Setter NCL.[1]


  1. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Katz, M.L., Khan, S., Awano, T., Shahid, S.A., Siakotos, A.N., Johnson, G.S. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
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