A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation.
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.
Schiebel
K
K
Institute of Human Genetics, University of Heidelberg, Germany.
Weiss
B
B
Wöhrle
D
D
Rappold
G
G
D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D002460:Cell Line; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA; D004303:Dosage Compensation, Genetic; D005260:Female; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D000226:Mitochondrial ADP, ATP Translocases / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D011544:Pseudogenes; D012377:Rodentia; D014960:X Chromosome
D004247:DNA; D000226:Mitochondrial ADP, ATP Translocases