Abstract
We have investigated the genetic defect of the Cu-ATPase gene (Atp7a) in the macular mouse, a genetic model of classical Menkes disease. Northern blot analysis showed that its placenta and kidney possess a normal amount of the Cu-ATPase mRNA of the normal size; sequencing analysis revealed two missense mutations, His674Arg and Ser1381 Pro, in a PCR-amplified cDNA for mutant Cu-ATPase. The latter mutation was suspected to affect the function of the ATPase, because it lies in the transmembrane segment that is thought to form a channel for the transportation of copper ions.
MeSH terms
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Adenosine Triphosphatases / genetics*
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Amino Acid Sequence
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Amino Acid Substitution / genetics
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Animals
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Carrier Proteins / genetics*
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Cation Transport Proteins*
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Copper-Transporting ATPases
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Disease Models, Animal
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Humans
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Menkes Kinky Hair Syndrome / enzymology*
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Menkes Kinky Hair Syndrome / genetics*
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Mice
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Mice, Mutant Strains
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Molecular Sequence Data
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Point Mutation*
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Polymerase Chain Reaction
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RNA, Messenger / biosynthesis
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Recombinant Fusion Proteins*
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Sequence Homology, Amino Acid
Substances
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Atp7a protein, mouse
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Carrier Proteins
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Cation Transport Proteins
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RNA, Messenger
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Recombinant Fusion Proteins
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Adenosine Triphosphatases
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ATP7A protein, human
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Copper-Transporting ATPases