Human Molecular Genetics, Vol 8, 501-507, Copyright © 1999 by Oxford University Press
BJ van de Sluis, M Breen, M Nanji, M van Wolferen, P de Jong, MM Binns, PL Pearson, J Kuipers, J Rothuizen, DW Cox, C Wijmenga and BA van Oost
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.
ARTICLES
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13- p16
Department of Human Genetics, Utrecht University, PO Box 80030, 3508 TA Utrecht, The Netherlands.
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