title: Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
abstract: A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a deletion of 1.6 kb had a smaller 4.0 kb transcript. The last patient had a normal sized transcript and a missense mutation at base 1258 leading to Glu-291-Lys substitution in a region of the candidate gene protein which is conserved in the 70 kD peroxisomal membrane protein. These results provide further evidence that this candidate gene is indeed the ALD gene.
authors.affiliation: INSERM U342, Hôpital Saint Vincent de Paul, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Cartier
authors.forename: C O
authors.initials: CO
authors.lastname: Sarde
authors.forename: A M
authors.initials: AM
authors.lastname: Douar
authors.forename: J
authors.initials: J
authors.lastname: Mosser
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
authors.forename: P
authors.initials: P
authors.lastname: Aubourg
mesh_terms: D018528:ATP-Binding Cassette Transporters; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D003001:Cloning, Molecular; D017124:Conserved Sequence; D015342:DNA Probes; D005091:Exons; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005971:Glutamates; D018698:Glutamic Acid; D006801:Humans; D008239:Lysine; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008830:Microbodies / Q000378:metabolism; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics* / Q000378:metabolism; D017384:Sequence Deletion; D014158:Transcription, Genetic; D014960:X Chromosome
chemical_list: C063305:ABCD3 protein, human; D018528:ATP-Binding Cassette Transporters; D015342:DNA Probes; D005971:Glutamates; D008565:Membrane Proteins; D012333:RNA, Messenger; D018698:Glutamic Acid; D008239:Lysine