Human Genetics

, Volume 99, Issue 3, pp 329–333

Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment

Authors

  • Ravi Amaravadi
    • Department of Biological Sciences, Columbia University, New York, NY 10027, USA Tel.: +1-212-854-2920; Fax: +1-212-865-8246
  • D. Moira Glerum
    • Department of Biological Sciences, Columbia University, New York, NY 10027, USA Tel.: +1-212-854-2920; Fax: +1-212-865-8246
  • A. Tzagoloff
    • Department of Biological Sciences, Columbia University, New York, NY 10027, USA Tel.: +1-212-854-2920; Fax: +1-212-865-8246
Original investigation

DOI: 10.1007/s004390050367

Cite this article as:
Amaravadi, R., Glerum, D. & Tzagoloff, A. Hum Genet (1997) 99: 329. doi:10.1007/s004390050367

Abstract

The COX17 gene of Saccharomyces cerevisiae codes for a cytoplasmic protein essential for the expression of functional cytochrome oxidase. This protein has been implicated in targeting copper to mitochondria. To determine if Cox17p is present in mammalian cells, a yeast strain carrying a null mutation in COX17 was transformed with a human cDNA expression library. All the respiratory competent clones obtained from the transformations carried a common cDNA sequence with a reading frame predicting a product homologous to yeast Cox17p. The cloning of a mammalian COX17 homolog suggests that the encoded product is likely to function in copper recruitment in eucaryotic cells in general. Its presence in humans provides a possible target for genetically inherited deficiencies in cytochrome oxidase.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997