title: Studies on the defect which causes absence of decay accelerating factor (DAF) from the peripheral blood cells of an individual with the Inab phenotype.
abstract: 1. We have studied the peripheral blood cells of an individual with the Inab phenotype who is deficient in decay accelerating factor (DAF). 2. In contrast with the situation in paroxysmal nocturnal haemoglobinuria, membranes from peripheral blood cells of the Inab phenotype individual lack DAF, but retain the other glycosylphosphatidylinositol-linked proteins acetylcholinesterase and LFA-3. 3. Unlike normal Epstein-Barr-virus-transformed lymphoblastoid cell lines (EBV-LCL), DAF was not expressed on EBV-LCL derived from peripheral blood lymphocytes of the Inab individual. 4. No differences in the DAF gene of normal and Inab phenotype individuals could be detected by Southern blotting studies. 5. EBV-LCL derived from the Inab individual had a gross reduction in the level of DAF mRNA compared with normal EBV-LCL. 6. Our results suggest that the DAF gene in the Inab phenotype contains a mutation which affects the transcription or processing of DAF mRNA.
authors: Department of Biochemistry, School of Medical Sciences, University of Bristol, U.K.
authors: C G
authors: CG
authors: Tate
authors: M
authors: M
authors: Uchikawa
authors: M J
authors: MJ
authors: Tanner
authors: P A
authors: PA
authors: Judson
authors: S F
authors: SF
authors: Parsons
authors: G
authors: G
authors: Mallinson
authors: D J
authors: DJ
authors: Anstee
mesh_terms: D001773:Blood Cells / Q000032:analysis*; D001798:Blood Proteins / Q000172:deficiency* / Q000235:genetics; D018958:CD55 Antigens; D003169:Complement Inactivator Proteins / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D004912:Erythrocytes / Q000032:analysis; D006801:Humans; D008565:Membrane Proteins / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D010641:Phenotype; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D001798:Blood Proteins; D018958:CD55 Antigens; D003169:Complement Inactivator Proteins; D008565:Membrane Proteins; D012333:RNA, Messenger