Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adenosine Triphosphatases / genetics*
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Adenosine Triphosphatases / metabolism
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Amino Acid Sequence
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Base Sequence
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Blotting, Northern
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Carrier Proteins / genetics*
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Carrier Proteins / metabolism
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Cation Transport Proteins*
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Cells, Cultured
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Chromosomes, Fungal
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Cloning, Molecular
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Copper-Transporting ATPases
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DNA / isolation & purification
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Electrophoresis, Gel, Pulsed-Field
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Female
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Gene Library
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Genome, Human
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Humans
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Male
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Menkes Kinky Hair Syndrome / genetics*
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Metals / metabolism*
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Molecular Sequence Data
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Pedigree
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Recombinant Fusion Proteins*
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Restriction Mapping
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Sequence Homology, Amino Acid
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Translocation, Genetic
Substances
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Carrier Proteins
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Cation Transport Proteins
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Metals
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Recombinant Fusion Proteins
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DNA
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Adenosine Triphosphatases
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ATP7A protein, human
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Copper-Transporting ATPases