The Wilson Disease Gene is a Copper Transporting ATPase with
Homology to the Menkes Disease Gene
R.E. Tanzi, K. Petrukhin, I. Chernov, J.L. Pellequer, W. Wasco,
B. Ross, D.M. Romano, E. Parano, L. Pavone, L.M. Brzustowicz,
M. Devoto , J. Peppercorn , A.I. Bush, I. Sterlieb,
M. Pirastu, J.F. Gusella, O. Evgrafov, G.K. Penchaszadeh, B. Honig,
I.S. Edelman, M.B. Soares, I.H. Scheinberg, T.C.Gilliam
Nature Genetics , 5(4), 344--350 (1993 Dec)
Abstract
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.
