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Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.
The putative copper and ATP-binding domains of the human Menkes disease gene were used as probes to screen a human liver cDNA library at reduced stringency. Sixty-five clones which remained positive after tertiary screening were subcloned and sequenced. One of these cDNA clones contains an open reading frame with 65% amino acid homology to the Menkes protein. Southern blot analysis localizes this cDNA to the region of the Wilson disease locus on chromosome 13. This cDNA detects a 7.5 kB transcript which is present in human liver and cell lines devoid of the Menkes transcript and which is absent in liver from a patient with Wilson disease. These data suggest that this cDNA is a candidate gene for Wilson disease and that the protein encoded at this locus is a member of the P-type ATPase family.
PMID: 8250934 [PubMed - indexed for MEDLINE]
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Cited by 31 PubMed Central articles
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Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls.
Schaefer M, Schellenberg M, Merle U, Weiss KH, Stremmel W.
BMC Gastroenterol. 2008 Jul 17; 8:29. Epub 2008 Jul 17.
[BMC Gastroenterol. 2008]
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Analysis of the human Atox 1 homologue in Wilson patients.
Simon I, Schaefer M, Reichert J, Stremmel W.
World J Gastroenterol. 2008 Apr 21; 14(15):2383-7.
[World J Gastroenterol. 2008]
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Copper homeostasis in Drosophila by complex interplay of import, storage and behavioral avoidance.
Balamurugan K, Egli D, Hua H, Rajaram R, Seisenbacher G, Georgiev O, Schaffner W.
EMBO J. 2007 Feb 21; 26(4):1035-44. Epub 2007 Feb 8.
[EMBO J. 2007]
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