PMID- 9949209
OWN - NLM
STAT- MEDLINE
DCOM- 19990503
LR  - 20191210
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 3
DP  - 1999 Mar
TI  - Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog 
      chromosome 10, in a region syntenic to human chromosome region 2p13-p16.
PG  - 501-7
AB  - Abnormal hepatic copper accumulation is recognized as an inherited disorder in 
      man, mouse, rat and dog. The major cause of hepatic copper accumulation in man is 
      a dysfunctional ATP7B gene, causing Wilson disease (WD). Mutations in the ATP7B 
      genes have also been demonstrated in mouse and rat. The ATP7B gene has been 
      excluded in the much rarer human copper overload disease non-Indian childhood 
      cirrhosis, indicating genetic heterogeneity. By investigating the common 
      autosomal recessive copper toxicosis (CT) in Bedlington terriers, we have 
      identified a new locus involved in progressive liver disease. We examined whether 
      the WD gene ATP7B was also causative for CT by investigating the chromosomal 
      co-localization of ATP7B and C04107, using fluorescence in situ hybridization 
      (FISH). C04107 is an anonymous microsatellite marker closely linked to CT. 
      However, BAC clones containing ATP7B and C04107 mapped to the canine chromosome 
      regions CFA22q11 and CFA10q26, respectively, demonstrating that WD cannot be 
      homologous to CT. The copper transport genes CTR1 and CTR2 were also excluded as 
      candidate genes for CT since they both mapped to canine chromosome region 
      CFA11q22. 2-22.5. A transcribed sequence identified from the C04107-containing 
      BAC was found to be homologous to a gene expressed from human chromosome 
      2p13-p16, a region devoid of any positional candidate genes.
FAU - van de Sluis, B J
AU  - van de Sluis BJ
AD  - Department of Human Genetics, Utrecht University, PO Box 80030, 3508 TA Utrecht, 
      The Netherlands.
FAU - Breen, M
AU  - Breen M
FAU - Nanji, M
AU  - Nanji M
FAU - van Wolferen, M
AU  - van Wolferen M
FAU - de Jong, P
AU  - de Jong P
FAU - Binns, M M
AU  - Binns MM
FAU - Pearson, P L
AU  - Pearson PL
FAU - Kuipers, J
AU  - Kuipers J
FAU - Rothuizen, J
AU  - Rothuizen J
FAU - Cox, D W
AU  - Cox DW
FAU - Wijmenga, C
AU  - Wijmenga C
FAU - van Oost, B A
AU  - van Oost BA
LA  - eng
SI  - GENBANK/AF087914
SI  - GENBANK/AF113322
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Carrier Proteins)
RN  - 0 (Cation Transport Proteins)
RN  - 0 (DNA Primers)
RN  - 789U1901C5 (Copper)
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
RN  - EC 7.2.2.8 (ATP7B protein, human)
RN  - EC 7.2.2.8 (Copper-Transporting ATPases)
SB  - IM
MH  - Adenosine Triphosphatases/genetics
MH  - Animals
MH  - Base Sequence
MH  - Carrier Proteins/genetics
MH  - *Cation Transport Proteins
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Copper/*metabolism/*toxicity
MH  - Copper-Transporting ATPases
MH  - DNA Primers/genetics
MH  - Dog Diseases/*genetics
MH  - Dogs
MH  - Hepatolenticular Degeneration/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Metal Metabolism, Inborn Errors/genetics/*veterinary
MH  - Mice
MH  - Molecular Sequence Data
MH  - Rats
MH  - Species Specificity
EDAT- 1999/02/09 00:00
MHDA- 1999/02/09 00:01
CRDT- 1999/02/09 00:00
PHST- 1999/02/09 00:00 [pubmed]
PHST- 1999/02/09 00:01 [medline]
PHST- 1999/02/09 00:00 [entrez]
AID - ddc059 [pii]
AID - 10.1093/hmg/8.3.501 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Mar;8(3):501-7. doi: 10.1093/hmg/8.3.501.