Nature Genetics
5, 344 - 350 (1993)
doi:10.1038/ng1293-344
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease geneR.E. Tanzi1, K. Petrukhin2, 3, I. Chernov2, 3, J.L. Pellequer4, W. Wasco1, B. Ross2, 3, D.M. Romano1, E. Parano5, L. Pavone5, L.M. Brzustowicz2, 3, M. Devoto2, 3, J. Peppercorn1, A.I. Bush1, I. Sternlieb6, 7, 8, M. Pirastu9, J.F. Gusella1, O. Evgrafov10, G.K. Penchaszadeh2, 3, B. Honig4, I.S. Edelman4, 11, M.B. Soares2, 3, I.H. Scheinberg6, 7, 8
& T.C. Gilliam12, 2, 3
1Neurology Department, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, 02114, USA
2Department of Psychiatry, New York, New York 10032, USA
3Department of New York State Psychiatric Institute, New York, New York 10032, USA
4Department of Biochemistry and Molecular Biophysics, New York, New York 10032, USA
5Pediatric Clinic, University of Catania, Italy
6Department of Medicine, Columbia University, New York, New York 10032, USA
7The National Center for the Study of Wilson's Disease, New York, New York 10019, USA
8St. Luke's Roosevelt Hospital, New York, New York 10019, USA
9Instituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, Cagliari, Italy
10Research Center of Medical Genetics, Moscow, Russia
11Department of Center for Reproductive Sciences, New York, New York 10032, USA
12Department of Genetics and Development, New York, New York 10032, USA Correspondence should be addressed to T.C.G. Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and brain. As shown in the accompanying paper, linkage disequilibrium & haplotype analysis confirmed the disease locus to a single marker interval at 13q14.3. Here we describe a partial cDNA clone (pWD) which maps to this region and shows a particular 76% amino acid homology to the Menkes disease gene, Mc1. The predicted functional properties of the pWD gene together with its strong homology to Mc1, genetic mapping data and identification of four independent disease−specific mutations, provide convincing evidence that pWD is the Wilson disease gene.
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