title: A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.
abstract: 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.
authors: Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Institut Pasteur, Paris, France.
authors: R
authors: R
authors: Slim
authors: J
authors: J
authors: Levilliers
authors: H J
authors: HJ
authors: Lüdecke
authors: U
authors: U
authors: Claussen
authors: V C
authors: VC
authors: Nguyen
authors: N M
authors: NM
authors: Gough
authors: B
authors: B
authors: Horsthemke
authors: C
authors: C
authors: Petit
mesh_terms: D000782:Aneuploidy; D000818:Animals; D001483:Base Sequence; D002899:Chromosomes, Human, Pair 9; D003001:Cloning, Molecular; D006224:Cricetinae; D004247:DNA / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D000226:Mitochondrial ADP, ATP Translocases / Q000235:genetics*; D008969:Molecular Sequence Data; D011544:Pseudogenes; D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / Q000235:genetics; D015183:Restriction Mapping; D014158:Transcription, Genetic; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor; D004247:DNA; D000226:Mitochondrial ADP, ATP Translocases