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Isolation of a partial candidate gene for Menkes disease by positional cloning
Open accessAbstract
Menkes disease is an X–linked recessive disorder of copper metabolism resulting in death in early infancy. The gene has been mapped to band Xq13 based, in part, on a translocation breakpoint in a female with the disease, which was found to lie within 300 kilobases (kb) of the PGK–1 locus, allowing the isolation of a YAC clone spanning the breakpoint. Phage subclones from the breakpoint region were isolated and used to screen cDNA libraries. cDNA clones were found which detect an 8 kb transcript from normal individuals but show diminished or absent hybridization in Menkes disease patients. 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. This gene is a strong candidate for the Menkes disease gene.
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Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., et al. (1991) · Nature · doi:10.1038/353529a0 · Cited by 846
Cited by
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Finney, L. A., & O'Halloran, T. V. (2003) · Science · doi:10.1126/science.1085049 · Cited by 1,100
Function and Regulation of Human Copper-Transporting ATPases
Lutsenko, S., Barnes, N. L., Bartee, M. Y., & Dmitriev, O. Y. (2007) · Physiological Reviews · doi:10.1152/physrev.00004.2006 · Cited by 864
h CTR1: A human gene for copper uptake identified by complementation in yeast
Zhou, B., & Gitschier, J. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.14.7481 · Cited by 567
Copper and iron disorders of the brain
Madsen, E., & Gitlin, J. D. (2007) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.30.051606.094232 · Cited by 557
Arredondo, M., & Núñez, M. T. (2005) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2005.07.010 · Cited by 550
Metadata
- Authors
- Mercer, J. F. B., Livingston, J., Hall, B., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., & Glover, T. W.
- Venue
- Nature Genetics
- Published
- 1993-01-01
- Volume
- 3
- Issue
- 1
- Pages
- 20-25
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1993651887
- Cited by
- 696
- References
- 1
- FWCI
- 50.82
- Type
- journal article
- Language
- en
- Open access
- green
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- Mercer, J. F. B., Livingston, J., Hall, B., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., & Glover, T. W. (1993). Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genetics. https://doi.org/10.1038/ng0193-20
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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