The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

@article{Tanzi1993TheWD,
  title={The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene},
  author={Rudolph E. Tanzi and K. E. Petrukhin and I. Chernov and Jean‐Luc Pellequer and Wilma Wasco and Barbara M. Ross and D. M. Romano and Enrico Parano and Lorenzo Pavone and L. M. Brzustowicz and Marcella Devoto and Jeffrey M Peppercorn and Ashley I. Bush and Irmin Sternlieb and Mario Pirastu and James F. Gusella and Oleg V. Evgrafov and Graciela K. Penchaszadeh and Barry Honig and Isidore S. Edelman and Marcelo Bento Soares and I. Herbert Scheinberg and T. Conrad Gilliam},
  journal={Nature Genetics},
  year={1993},
  volume={5},
  pages={344-350}
}
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… 

ATP7B (WND) protein.

A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.

TLDR
The genetic mutations of two Finnish patients with Wilson disease were investigated and the levels of lysyl oxidase activity in cultured skin fibroblasts from these Wilson disease patients were measured.

The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease

TLDR
To date, more than 50 disease specific mutations have been identified in a number of WD patients from different countries, and some were reported to be frequent in specific populations, which may help to introduce rapid diagnostic procedures based on direct DNA analysis into routine clinical practice.

Towards the Characterization of the Wilson Disease Copper ATpase Metal Binding Domain

Wilson disease is one of two major genetic disorders of copper metabolism in humans, the other being Menkes disease (Danks, 1995; DiDonato and Sarkar, 1997; Vulpe and Packman, 1995). It is inherited

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

TLDR
This work developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region, and predicts that approximately half of all WD mutations will be rare in the American and Russian populations.

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

TLDR
This work cloned cDNAs for the rat gene (Atp7b) homologous to the human Wilson disease gene (ATP7B) and used them to identify a partial deletion in the Atp7B gene in the LEC rat, providing convincing evidence for defining the L EC rat as an animal model for Wilson disease.

Molecular Genetics of Menkes Disease

TLDR
The underlying genetic defect in Menkes disease is discussed and the mutation spectrum is compared to that found in the animal model, the mottled mouse, and in Wilson disease, the autosomal recessive disorder of copper metabolism.

The Wilson disease gene: spectrum of mutations and their consequences

TLDR
These findings suggest a wider spectrum of age of onset than is considered typical of Wilson disease: mutations that completely disrupt the gene can produce liver disease in early childhood when Wilson disease may not typically considered in the differential diagnosis.
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References

SHOWING 1-10 OF 36 REFERENCES

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

TLDR
A candidate gene (Mc1) for Menkes disease is isolated and qualitative or quantitative abnormalities in the mRNA in sixteen of twenty–one Menkes patients are found and predicted to be a P–type cation–transporting ATPase.

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

TLDR
This work developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region, and predicts that approximately half of all WD mutations will be rare in the American and Russian populations.

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

TLDR
The construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene are reported, leading to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

TLDR
The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.

Isolation of a partial candidate gene for Menkes disease by positional cloning

TLDR
Partial sequence of the cDNA shows a unique open reading frame containing putative metal binding motifs which have been found in heavy metal resistance genes in bacteria, which is a strong candidate for the Menkes disease gene.

Evidence for linkage between Wilson disease and esterase D in three kindreds: Detection of linkage for an autosomal recessive disorder by the family study method

TLDR
The maximum likelihood estimate of recombination was determined to be zero and the combined maximum lod score based on pooled results from the Israeli‐Arab and Druze kindreds is 5.49 at θ = 0.03.

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

TLDR
Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.

Allelic association and linkage studies in Wilson disease.

TLDR
The distribution of marker alleles at the loci studied is examined and it is found that D13S31 and D 13S228, and associated microsatellite marker, show a non-random distribution on chromosomes carrying the WND mutation.

Polymorphic microsatellites and Wilson disease (WD).

TLDR
Preclinical testing of three cases of WD by using the highly informative polymorphic microsatellite markers described here ensure that 95% of predictive tests using DNA from both parents and from at least one affected sib will have an accuracy > 99%.

Predictive testing for Wilson's disease using tightly linked and flanking DNA markers

TLDR
DNA polymorphisms for five new chromosome 13 markers in 52 Wilson's disease (WD) families from Europe, North America, and the Middle East suggest that the chromosomal location of the Wilson’s disease gene is the same in all families from the populations studied.