PMID- 16515703
OWN - NLM
STAT- MEDLINE
DCOM- 20060426
LR  - 20181113
IS  - 1471-2156 (Electronic)
IS  - 1471-2156 (Linking)
VI  - 7
DP  - 2006 Mar 3
TI  - Characterization of the canine CLCN3 gene and evaluation as candidate for 
      late-onset NCL.
PG  - 13
AB  - BACKGROUND: The neuronal ceroid lipofuscinoses (NCL) are a heterogenous group of 
      inherited progressive neurodegenerative diseases in different mammalian species. 
      Tibetan Terrier and Polish Owczarek Nizinny (PON) dogs show rare late-onset NCL 
      variants with autosomal recessive inheritance, which can not be explained by 
      mutations of known human NCL genes. These dog breeds represent animal models for 
      human late-onset NCL. In mice the chloride channel 3 gene (Clcn3) encoding an 
      intracellular chloride channel was described to cause a phenotype similar to NCL. 
      RESULTS: Two full-length cDNA splice variants of the canine CLCN3 gene are 
      reported. The current canine whole genome sequence assembly was used for gene 
      structure analyses and revealed 13 coding CLCN3 exons in 52 kb of genomic 
      sequence. Sequence analysis of the coding exons and flanking intron regions of 
      CLCN3 using six NCL-affected Tibetan terrier dogs and an NCL-affected Polish 
      Owczarek Nizinny (PON) dog, as well as eight healthy Tibetan terrier dogs 
      revealed 13 SNPs. No consistent CLCN3 haplotype was associated with NCL. 
      CONCLUSION: For the examined animals we excluded the complete coding region and 
      adjacent intronic regions of canine CLCN3 to harbor disease-causing mutations. 
      Therefore it seems to be unlikely that a mutation in this gene is responsible for 
      the late-onset NCL phenotype in these two dog breeds.
FAU - Wohlke, Anne
AU  - Wohlke A
AD  - Institute for Animal Breeding and Genetics, University of Veterinary Medicine, 
      Hannover, Bunteweg 17p, 30559 Hannover, Germany. anne.woehlke@tiho-hannover.de
FAU - Distl, Ottmar
AU  - Distl O
FAU - Drogemuller, Cord
AU  - Drogemuller C
LA  - eng
PT  - Journal Article
DEP - 20060303
PL  - England
TA  - BMC Genet
JT  - BMC genetics
JID - 100966978
RN  - 0 (Chloride Channels)
SB  - IM
MH  - Animals
MH  - Chloride Channels/*genetics
MH  - DNA Mutational Analysis
MH  - Disease Models, Animal
MH  - Dogs
MH  - Exons
MH  - *Genetic Predisposition to Disease
MH  - Introns
MH  - Neuronal Ceroid-Lipofuscinoses/*genetics
MH  - Polymorphism, Single Nucleotide
PMC - PMC1413550
EDAT- 2006/03/07 09:00
MHDA- 2006/04/28 09:00
PMCR- 2006/03/03
CRDT- 2006/03/07 09:00
PHST- 2005/12/10 00:00 [received]
PHST- 2006/03/03 00:00 [accepted]
PHST- 2006/03/07 09:00 [pubmed]
PHST- 2006/04/28 09:00 [medline]
PHST- 2006/03/07 09:00 [entrez]
PHST- 2006/03/03 00:00 [pmc-release]
AID - 1471-2156-7-13 [pii]
AID - 10.1186/1471-2156-7-13 [doi]
PST - epublish
SO  - BMC Genet. 2006 Mar 3;7:13. doi: 10.1186/1471-2156-7-13.