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.
Slim
R
R
Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Institut Pasteur, Paris, France.
Levilliers
J
J
Lüdecke
H J
HJ
Claussen
U
U
Nguyen
V C
VC
Gough
N M
NM
Horsthemke
B
B
Petit
C
C
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
D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor; D004247:DNA; D000226:Mitochondrial ADP, ATP Translocases