title: A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene.
abstract: Cockayne syndrome (CS) is an autosomal recessive disorder, which is associated with abnormal UV hypersensitivity, growth retardation, and psycho-neural abnormalities. Recently, CSA protein was found to be associated with CS. We obtained mRNAs from immortal lymphoblasts derived from members of the kindred, and sequenced the CSA gene of all family members after reverse transcription (RT) of the coding region. The intact length of the CSA transcript was found in all family members except the proband with CS. Multiple abnormal splicing variant forms were revealed in all cases. No mutation was found in the sequences of the splice donor and acceptor sites of each exon in the CSA gene. UVA irradiation suppressed cell growth in the proband. There was no significant alteration of UVA sensitivity among the normal control and the family members except for the proband. These data suggest that multiple splicing variant forms of CSA mRNA, in the absence of the full-length form of the mRNA, are associated with CS.
authors.affiliation: Department of Aging Medicine and Geriatrics, Institute on Aging and Adaptation, Division of Medicine, Shinshu University Graduate School, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
authors.forename: Ai
authors.initials: A
authors.lastname: Komatsu
authors.forename: Satoru
authors.initials: S
authors.lastname: Suzuki
authors.forename: Takeshi
authors.initials: T
authors.lastname: Inagaki
authors.forename: Koh
authors.initials: K
authors.lastname: Yamashita
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hashizume
mesh_terms: D000328:Adult; D003057:Cockayne Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D045643:DNA Repair Enzymes; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors; D014466:Ultraviolet Rays / Q000009:adverse effects
chemical_list: C095472:ERCC8 protein, human; D011506:Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; D045643:DNA Repair Enzymes