A human pseudoautosomal gene, ADP/ATP translocase, escapes X–inactivation whereas a homologue on Xq is subject to X–inactivation
- 1 January 1993
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 3 (1), 82-87
- https://doi.org/10.1038/ng0193-82
Abstract
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.Keywords
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