title: Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs.
abstract: The neuronal ceroid lipofuscinoses (NCL) are a group of fatal autosomal recessive neurodegenerative diseases occurring in human and some domesticated animal species. A canine form of the disease (CNCL) has been extensively studied in a Norwegian colony of inbred English setters since 1960. A resource family developed for genetic mapping and comprising 170 individuals was typed for 103 genetic markers. Linkage analysis showed three genetic markers to be linked to the disease locus with the closest marker at a distance of about 3 CM. Two other loci were linked with these markers making a linkage group of five genetic markers. The linkage group spanned a distance of 54 CM. Two genes for human forms of the disease, CLN2 and CLN3, have been identified and mapped to human chromosome 11p15 and 16p12, respectively. The present study did not indicate any linkage between CNCL and the canine CLN3 homologue or to homologues of markers for genes that map close to human CLN2.
authors.affiliation: Norwegian Kennel Club, Norwegian College of Veterinary Medicine, Oslo, Norway.
authors.forename: F
authors.initials: F
authors.lastname: Lingaas
authors.forename: T
authors.initials: T
authors.lastname: Aarskaug
authors.forename: M
authors.initials: M
authors.lastname: Sletten
authors.forename: I
authors.initials: I
authors.lastname: Bjerkås
authors.forename: U
authors.initials: U
authors.lastname: Grimholt
authors.forename: L
authors.initials: L
authors.lastname: Moe
authors.forename: R K
authors.initials: RK
authors.lastname: Juneja
authors.forename: A N
authors.initials: AN
authors.lastname: Wilton
authors.forename: F
authors.initials: F
authors.lastname: Galibert
authors.forename: N G
authors.initials: NG
authors.lastname: Holmes
authors.forename: G
authors.initials: G
authors.lastname: Dolf
mesh_terms: D000626:Aminopeptidases; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D017931:DNA Primers / Q000235:genetics; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D010450:Endopeptidases; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007178:Inbreeding; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000662:veterinary*; D010447:Peptide Hydrolases / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics; D057057:Serine Proteases; D013045:Species Specificity; D000091346:Tripeptidyl-Peptidase 1
chemical_list: C105199:CLN3 protein, human; D017931:DNA Primers; D005819:Genetic Markers; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011506:Proteins; D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D010447:Peptide Hydrolases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human