Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model |
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Authors: | Y Ohta N Shiraishi M Nishikimi |
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Affiliation: | Department of Biochemistry, Wakayama Medical College, Japan. |
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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. |
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