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

Nature Genetics volume 3, pages 14–19 (1993)Cite this article

Abstract

Menkes disease is a lethal–X linked recessive disorder associated with copper metabolism disturbance. We have recently mapped two chromosome breakpoints related to this disease in a 1 megabase yeast artificial chromosome contig at Xq13.3. We now report the construction of a phage contig and the isolation of candidate partial cDNAs for the Menkes disease gene. The candidate gene expresses an 8 kb message in all investigated tissues, and deletions were detected in 16% of 100 unrelated Menkes patients. The deduced partial protein sequence shared the GMTCXXC motif with bacterial metal resistance operons, suggesting a potential heavy metal binding protein. These findings should lead to more accurate prenatal diagnosis of this severe disease and a better understanding of the cellular homeostasis of essential heavy metals.

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Authors and Affiliations

  1. ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital Headington, Oxford, OX3 9DU, UK

    Jamel Chelly, Yumiko Ishikawa-Brush & Anthony P. Monaco

  2. The John F. Kennedy Institute and The Danish Center for Human Genome Research, Gl.Landevej 7, 2600, Glostrup, Denmark

    Zeynep Tümer, Tønne Tønnesen, Anne Petterson, Niels Tommerup & Nina Horn

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  1. Jamel Chelly
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  2. Zeynep Tümer
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  3. Tønne Tønnesen
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  4. Anne Petterson
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  5. Yumiko Ishikawa-Brush
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  6. Niels Tommerup
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  7. Nina Horn
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  8. Anthony P. Monaco
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Chelly, J., Tümer, Z., Tønnesen, T. et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 3, 14–19 (1993). https://doi.org/10.1038/ng0193-14

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