title: Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA.
abstract: alpha B-Crystallin is a major protein component of Rosenthal fibers, which massively accumulate in the brains of patients suffering from Alexander's disease. To examine whether or not accumulation of alpha B-crystallin is due to any abnormality of the gene structures, we determined the sequence of the alpha B-crystallin gene in two cases of pathologically confirmed Alexander's disease. Direct sequencing of the promoter and coding regions of the alpha B-crystallin gene in patients revealed them to have a normal sequence. Northern blotting showed a single alpha B-crystallin mRNA species expressed in the Alexander's disease brain.
authors.affiliation: Research Laboratory for Genetic Information, Kyushu University, Fukuoka, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Iwaki
authors.forename: T
authors.initials: T
authors.lastname: Iwaki
authors.forename: J E
authors.initials: JE
authors.lastname: Goldman
authors.forename: K
authors.initials: K
authors.lastname: Ogomori
authors.forename: J
authors.initials: J
authors.lastname: Tateishi
authors.forename: Y
authors.initials: Y
authors.lastname: Sakaki
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002648:Child; D003459:Crystallins / Q000235:genetics* / Q000378:metabolism*; D004247:DNA / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009412:Nerve Fibers / Q000378:metabolism; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D003459:Crystallins; D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D004247:DNA