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

• Published in: Nature genetics Vol. 3; no. 1; pp. 82 - 87
• Main Authors: Schiebel, Katrin, Weiss, Birgit, Wöhrle, Doris, Rappold, Gudrun
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.01.1993
• Subjects: adenine nucleotide translocase; Agriculture; Animal Genetics and Genomics; Animals; ANT3 gene; Base Sequence; Biomedical and Life Sciences; Biomedicine; Blotting, Southern; Cancer Research; Cell Line; Chromosome Mapping; Cloning, Molecular; DNA; Dosage Compensation, Genetic; Female; Gene Function; Genes; Human Genetics; Humans; Hybrid Cells; inactivation; Male; man; mapping; Mitochondrial ADP, ATP Translocases - genetics; Mitochondrial ADP, ATP Translocases - metabolism; Molecular Sequence Data; Pseudogenes; Rodentia; X Chromosome
• ISSN: 1061-4036; 1546-1718
• 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.