title: Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.
abstract: We have characterized a complex chromosomal rearrangement in band Xq28, in an adrenoleukodystrophy patient who also has blue-cone monochromacy. A 130-kb region upstream from the color-vision pigment genes was isolated as yeast artificial chromosome or cosmid clones. Another Xq28 sequence, not included in the above region, was obtained by cloning a deletion breakpoint from the patient. Using probes derived from the cloned sequences, we have shown that the rearrangement affects the color-pigment genes and includes two deletions, most likely separated by a large (greater than 110-kb) inversion. One deletion encompasses part of the pigment gene cluster and 33 kb of upstream sequences and accounts for the patient's blue-cone monochromacy. If this rearrangement also caused ALD, the disease gene would be expected to lie within or close to one of the deletions. However, deletions were not detected in a 50-kb region upstream of the red-color-pigment gene in 81 other ALD patients. Two CpG islands were mapped, at 46 and 115 kb upstream from the pigment genes.
authors.affiliation: Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Strasbourg, France.
authors.forename: R
authors.initials: R
authors.lastname: Feil
authors.forename: P
authors.initials: P
authors.lastname: Aubourg
authors.forename: J
authors.initials: J
authors.lastname: Mosser
authors.forename: A M
authors.initials: AM
authors.lastname: Douar
authors.forename: D
authors.initials: D
authors.lastname: Le Paslier
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics*; D001482:Base Composition; D001483:Base Sequence; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D003001:Cloning, Molecular; D003117:Color Vision Defects / Q000235:genetics*; D005796:Genes; D006801:Humans; D008297:Male; D005810:Multigene Family; D012168:Retinal Pigments / Q000235:genetics*; D014960:X Chromosome
chemical_list: D012168:Retinal Pigments