Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP)

被引:11
作者
Broccardo, C
Troffer-Charlier, N
Savary, S
Mandel, JL
Chimini, G
机构
[1] CNRS Marseille Luminy, INSERM, Ctr Immunol, F-13288 Marseille 09, France
[2] IGBMC, Illkrich, France
关键词
adrenoleukodystrophy related gene; adrenoleukodystrophy; gene structure; ATP binding Cassette transporter;
D O I
10.1038/sj.ejhg.5200233
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
ALDR is one of the four genes encoding an ATP Binding Cassette (ABC) hemi-transporter of the peroxisomal membrane so far identified in mammalian cells, The best known of these is X-ALD, whose dysfunction has been causally associated with X-linked adrenoleukodystrophy. ALDR and X-ALD protein product are closely related and we show here that this striking conservation is maintained at the genomic level, Although extending to a larger genomic region, the organisation of the mouse ALDR gene mirrors exactly that of X-ALD. This supports further the hypothesis that among the four known peroxisomal ABC hemi-transporters ALDRP is the most likely candidate as a modifier contributing to the phenotypic variability of X-linked adrenoleukodystrophy.
引用
收藏
页码:638 / 641
页数:4
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