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

Citation
C. Broccardo et al., Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP), EUR J HUM G, 6(6), 1998, pp. 638-641
Citations number
20
Categorie Soggetti
Molecular Biology & Genetics
Journal title
EUROPEAN JOURNAL OF HUMAN GENETICS
ISSN journal
10184813 → ACNP
Volume
6
Issue
6
Year of publication
1998
Pages
638 - 641
Database
ISI
SICI code
1018-4813(199811/12)6:6<638:EOOTMG>2.0.ZU;2-E
Abstract
ALDR is one of the four genes encoding an ATP Binding Cassette (ABC) hemi-t ransporter of the peroxisomal membrane so far identified in mammalian cells , The best known of these is X-ALD, whose dysfunction has been causally ass ociated with X-linked adrenoleukodystrophy. ALDR and X-ALD protein product are closely related and we show here that this striking conservation is mai ntained at the genomic level, Although extending to a larger genomic region , the organisation of the mouse ALDR gene mirrors exactly that of X-ALD. Th is supports further the hypothesis that among the four known peroxisomal AB C hemi-transporters ALDRP is the most likely candidate as a modifier contri buting to the phenotypic variability of X-linked adrenoleukodystrophy.