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

Biochem Mol Biol Int. 1997 Nov;43(4):913-8. doi: 10.1080/15216549700204721.

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

  • Adenosine Triphosphatases / genetics*
  • Amino Acid Sequence
  • Amino Acid Substitution / genetics
  • Animals
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Copper-Transporting ATPases
  • Disease Models, Animal
  • Humans
  • Menkes Kinky Hair Syndrome / enzymology*
  • Menkes Kinky Hair Syndrome / genetics*
  • Mice
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • RNA, Messenger / biosynthesis
  • Recombinant Fusion Proteins*
  • Sequence Homology, Amino Acid

Substances

  • Atp7a protein, mouse
  • Carrier Proteins
  • Cation Transport Proteins
  • RNA, Messenger
  • Recombinant Fusion Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases