Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant

J Biochem. 1997 Jun;121(6):1169-75. doi: 10.1093/oxfordjournals.jbchem.a021711.

Abstract

The full-length cDNA coding for a putative copper transporting P-type ATPase (Cu2+-ATPase) was cloned from Caenorhabditis elegans. The putative Cu2+-ATPase is a 1,238-amino acid protein, and highly homologous to the Menkes and Wilson disease gene products mutations of which are responsible for human defects of copper metabolism. The Saccharomyces cerevisiae mutant with a disrupted CCC2 gene (yeast Menkes/Wilson disease gene homologue) was rescued by the cDNA for the C. elegans Cu2+-ATPase but not by the cDNA with an Asp-786 (an invariant phosphorylation site) to Asn mutation, suggesting that the C. elegans Cu2+-ATPase functions as a copper transporter in yeast. The expressed C. elegans protein was detected in yeast vacuolar membranes by immunofluorescence microscopy. The yeast expression system may facilitate further studies on copper transporting P-type ATPases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Caenorhabditis elegans / genetics*
  • DNA, Complementary / genetics
  • Gene Deletion*
  • Genes, Fungal*
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Menkes Kinky Hair Syndrome / genetics*
  • Molecular Sequence Data
  • Mutation
  • Saccharomyces cerevisiae / genetics*
  • Sequence Homology, Nucleic Acid

Substances

  • DNA, Complementary

Associated data

  • GENBANK/D83665