PMID- 15475165
OWN - NLM
STAT- MEDLINE
DCOM- 20041210
LR  - 20060406
IS  - 0378-1119 (Print)
IS  - 0378-1119 (Linking)
VI  - 340
IP  - 2
DP  - 2004 Oct 13
TI  - Characterization of the canine desmin (DES) gene and evaluation as a candidate 
      gene for dilated cardiomyopathy in the Dobermann.
PG  - 241-9
AB  - Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium 
      associated with dilatation and impaired contraction of the ventricles and is 
      suspected to have a genetic cause. A missense mutation in the desmin gene (DES) 
      causes DCM in a human family. Human DCM closely resembles the canine disease. In 
      the present study, we evaluated whether DES gene mutations are responsible for 
      DCM in Dobermann dogs. We have isolated bacterial artificial chromosome clones 
      (BACs) containing the canine DES gene and determined the chromosomal location by 
      fluorescence in situ hybridization (FISH). Using data deposited in the NCBI trace 
      archive and GenBank, the canine DES gene DNA sequence was assembled and seven 
      single nucleotide polymorphisms (SNPs) were identified. From the canine DES gene 
      BAC clones, a polymorphic microsatellite marker was isolated. The microsatellite 
      marker and four informative desmin SNPs were typed in a Dobermann family with 
      frequent DCM occurrence, but the disease phenotype did not associate with a 
      desmin haplotype. We concluded that mutations in the DES gene do not play a role 
      in Dobermann DCM. Availability of the microsatellite marker, SNPs and DNA 
      sequence reported in this study enable fast evaluation of the DES gene as a DCM 
      candidate gene in other dog breeds with DCM occurrence.
FAU - Stabej, Polona
AU  - Stabej P
AD  - Department of Clinical Sciences of Companion Animals, Faculty of Veterinary 
      Medicine, Utrecht University, Yalelaan 8, 3584 CM Utrecht, The Netherlands. 
      P.Stabej@vet.uu.nl
FAU - Imholz, Sandra
AU  - Imholz S
FAU - Versteeg, Serge A
AU  - Versteeg SA
FAU - Zijlstra, Carla
AU  - Zijlstra C
FAU - Stokhof, Arnold A
AU  - Stokhof AA
FAU - Domanjko-Petric, Aleksandra
AU  - Domanjko-Petric A
FAU - Leegwater, Peter A J
AU  - Leegwater PA
FAU - van Oost, Bernard A
AU  - van Oost BA
LA  - eng
SI  - GENBANK/BK005142
PT  - Journal Article
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (Desmin)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Animals
MH  - Cardiomyopathy, Dilated/*genetics/veterinary
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Bacterial/genetics
MH  - Chromosomes, Mammalian/genetics
MH  - Cloning, Molecular
MH  - DNA/chemistry/genetics/isolation & purification
MH  - Desmin/*genetics
MH  - Dog Diseases/*genetics
MH  - Dogs/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease/genetics
MH  - Haplotypes
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Microsatellite Repeats
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Pedigree
MH  - Polymorphism, Single Nucleotide
MH  - Sequence Analysis, DNA
EDAT- 2004/10/12 09:00
MHDA- 2004/12/16 09:00
CRDT- 2004/10/12 09:00
PHST- 2004/03/24 00:00 [received]
PHST- 2004/06/15 00:00 [revised]
PHST- 2004/06/29 00:00 [accepted]
PHST- 2004/10/12 09:00 [pubmed]
PHST- 2004/12/16 09:00 [medline]
PHST- 2004/10/12 09:00 [entrez]
AID - S0378-1119(04)00393-2 [pii]
AID - 10.1016/j.gene.2004.06.050 [doi]
PST - ppublish
SO  - Gene. 2004 Oct 13;340(2):241-9. doi: 10.1016/j.gene.2004.06.050.