Occurrence of two missense mutations in Cu-ATPase ...[Biochem Mol Biol Int. 1997]

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1: Biochem Mol Biol Int. 1997 Nov;43(4):913-8.Links

Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model.

Ohta Y, Shiraishi N, Nishikimi M.

Department of Biochemistry, Wakayama Medical College, Japan.

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.

PMID: 9385451 [PubMed - indexed for MEDLINE]

Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.
Pediatr Res. 1997 Oct; 42(4):436-42.

[Pediatr Res. 1997]
Copper efflux from murine microvascular cells requires expression of the menkes disease Cu-ATPase.
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Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.
Biochem J. 1998 Aug 15; 334 ( Pt 1):71-7.

[Biochem J. 1998]
ReviewMultiple forms of the Menkes Cu-ATPase.
Adv Exp Med Biol. 1999; 448:39-51.

[Adv Exp Med Biol. 1999]
ReviewMutation spectrum of ATP7A, the gene defective in Menkes disease.
Adv Exp Med Biol. 1999; 448:83-95.

[Adv Exp Med Biol. 1999]
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