A HUMAN PSEUDOAUTOSOMAL GENE, ADP ATP TRANSLOCASE, ESCAPES X-INACTIVATION WHEREAS A HOMOLOG ON XQ IS SUBJECT TO X-INACTIVATION

被引:71
作者
SCHIEBEL, K [1 ]
WEISS, B [1 ]
WOHRLE, D [1 ]
RAPPOLD, G [1 ]
机构
[1] UNIV ULM,DEPT CLIN GENET,W-7900 ULM,GERMANY
关键词
D O I
10.1038/ng0193-82
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:82 / 87
页数:6
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