title: A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
abstract: Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disease found in Border collie dogs, humans, and other animals. Disease gene studies in humans and animals provided candidates for the NCL gene in Border collies. A combination of linkage analysis and comparative genomics localized the gene to CFA22 in an area syntenic to HSA13q that contains the CLN5 gene responsible for the Finnish variant of human late infantile NCL. Sequencing of CLN5 revealed a nonsense mutation (Q206X) within exon 4 that correlated with NCL in Border collies. This truncation mutation should result in a protein product of a size similar to that of some mutations identified in human CLN5 and therefore the Border collie may make a good model for human NCL. A simple test was developed to enable screening of the Border collie population for carriers so the disease can be eliminated as a problem in the breed.
authors: School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.
authors: Scott A
authors: SA
authors: Melville
authors: Carmen L
authors: CL
authors: Wilson
authors: Chiu S
authors: CS
authors: Chiang
authors: Virginia P
authors: VP
authors: Studdert
authors: Frode
authors: F
authors: Lingaas
authors: Alan N
authors: AN
authors: Wilton
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018389:Codon, Nonsense; D004285:Dogs; D005091:Exons; D008040:Genetic Linkage; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010375:Pedigree; D016415:Sequence Alignment
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins