A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation

Nat Genet. 1993 Jan;3(1):82-7. doi: 10.1038/ng0193-82.


We report the cloning of a highly conserved pseudoautosomal gene on the human sex chromosomes. A cDNA clone was selected by crosshybridization with a microdissected clone from the chromosomal subregion Xp22.3. It encodes a previously characterized member of the ADP/ATP translocase family and plays a fundamental role in cellular energy metabolism. This gene, ANT3, is located approximately 1,300 kilobases from the telomere, proximal to the pseudoautosomal gene CSF2RA, and escapes X-inactivation. Interestingly, a homologue of ANT3, ANT2, maps to Xq and is subject to X-inactivation. These genes provide the first evidence of two closely related X-chromosomal genes, which show striking differences in their X-inactivation behaviour.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Blotting, Southern
  • Cell Line
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA
  • Dosage Compensation, Genetic*
  • Female
  • Genes
  • Humans
  • Hybrid Cells
  • Male
  • Mitochondrial ADP, ATP Translocases / genetics*
  • Mitochondrial ADP, ATP Translocases / metabolism
  • Molecular Sequence Data
  • Pseudogenes*
  • Rodentia
  • X Chromosome*


  • DNA
  • Mitochondrial ADP, ATP Translocases

Associated data

  • GENBANK/J03592