title: The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.
abstract: BACKGROUND
  Non-Wilsonian hepatic copper toxicosis includes Indian childhood cirrhosis (ICC), endemic Tyrolean infantile cirrhosis (ETIC) and the non-Indian disease known as idiopathic copper toxicosis (ICT). These entities resemble the hepatic copper overload observed in livers of Bedlington terriers with respect to their clinical presentation and biochemical and histological findings. We recently cloned the gene causing copper toxicosis in Bedlington terriers, MURR1, as well as the orthologous human gene on chromosome 2p13-p16.
  
  
  OBJECTIVE
  To study the human orthologue of the canine copper toxicosis gene as a candidate gene for ICC, ETIC, and ICT.
  
  
  METHODS
  We sequenced the exons and the intron-exon boundaries of the human MURR1 gene in 12 patients with classical ICC, one patient with ETIC, and 10 patients with ICT to see whether these patients display any mutations in the human orthologue of the canine copper toxicosis gene.
  
  
  RESULTS
  No mutations in the MURR1 gene, including the intron-exon boundaries, were identified in a total of 23 patients with non-Wilsonian hepatic copper toxicosis.
  
  
  CONCLUSIONS
  Our results demonstrate that copper toxicosis in Bedlington terriers is not an animal model for the non-Wilsonian hepatic copper toxicosis described in this study.
authors.affiliation: Department of Pediatrics, University of Innsbruck, Innsbruck, Austria.
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Bart
authors.initials: B
authors.lastname: van de Sluis
authors.forename: Alexandra
authors.initials: A
authors.lastname: Zhernakova
authors.forename: Ellen
authors.initials: E
authors.lastname: van Binsbergen
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.forename: Ashish
authors.initials: A
authors.lastname: Bavdekar
authors.forename: Anand
authors.initials: A
authors.lastname: Pandit
authors.forename: Helga
authors.initials: H
authors.lastname: Weirich-Schwaiger
authors.forename: Heiko
authors.initials: H
authors.lastname: Witt
authors.forename: Helmut
authors.initials: H
authors.lastname: Ellemunter
authors.forename: Johann
authors.initials: J
authors.lastname: Deutsch
authors.forename: Helmut
authors.initials: H
authors.lastname: Denk
authors.forename: Wilfried
authors.initials: W
authors.lastname: Müller
authors.forename: Irmin
authors.initials: I
authors.lastname: Sternlieb
authors.forename: M Stuart
authors.initials: MS
authors.lastname: Tanner
authors.forename: Cisca
authors.initials: C
authors.lastname: Wijmenga
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins; D003300:Copper / Q000009:adverse effects* / Q000378:metabolism; D004285:Dogs; D006527:Hepatolenticular Degeneration; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C480519:COMMD1 protein, human; D002352:Carrier Proteins; D011506:Proteins; D003300:Copper