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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...

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Hauptverfasser: Schiebel, Katrin (VerfasserIn) , Weiß, Birgit (VerfasserIn) , Steinbach, Doris (VerfasserIn) , Rappold, Gudrun (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 01 January 1993
In: Nature genetics
Year: 1993, Jahrgang: 3, Heft: 1, Pages: 82-87
ISSN:1546-1718
DOI:10.1038/ng0193-82
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng0193-82
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng0193-82
Volltext
Verfasserangaben:Katrin Schiebel, Birgit Weiss, Doris Wöhrle & Gudrun Rappold
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 30.03.2021
Beschreibung:Online Resource
ISSN:1546-1718
DOI:10.1038/ng0193-82

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