| Author(s) | Katz ML; Khan S; Awano T; Shahid SA; Siakotos AN; Johnson GS
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| Title | A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis
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| Source | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 327 (2): 541-547
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| Date | 2005 FEB 11
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| Type | Journal : Article
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| LCR: 1 NCR: 46 LCS: 1 GCS: 3
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| Address | Univ Missouri, Dept Vet Pathobiol, Coll Vet Med, Columbia, MO 65201 USA.
Univ Missouri, Sch Med, Mason Eye Inst, Columbia, MO USA.
Univ Indianapolis, Indiana Dept Pathol, Sch Med, Indianapolis, IN 46227 USA.
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| Reprint | Johnson, GS, Univ Missouri, Dept Vet Pathobiol, Coll Vet Med, Columbia,
MO 65201 USA.
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| E-mail | johnsongs@missouri.edu
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| Abstract | 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 CLAW 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 1644 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 autosornal recessive inheritance. All four NCL-affected family members were C/C homozyrMes 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. (C) 2004 Elsevier Inc. All rights reserved.
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