A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.

We report that the human ANT3 ADP/ATP translocase gene is a pseudoautosomal gene located proximal to the GM-CSF receptor alpha chain gene (CSF2RA). An ANT3-homologous locus, likely corresponding to a pseudogene, maps to chromosome 9. The ANT3 gene is transcribed from the centromere to the telomere and contains in its first intron a CpG island mapped 1300 kb from the telomere. This gene is transcribed from the Y chromosome and from the active and inactive X chromosomes. This gene thus escapes X-inactivation as predicted for genes belonging to the pseudoautosomal region.