title: A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.
abstract: Fanconi anaemia (FA) is an autosomal recessive disorder associated with bone-marrow failure and hypersensitivity to DNA cross-linking agents. At least four complementation groups have been defined, and a cDNA which corrects the defect in group C cells (FACC) has recently been isolated. We have screened the FACC coding sequence for mutations in FA patients and found one patient to be homozygous for a nonsense mutation in exon 6 of the FACC coding sequence (R185X). Exon 6 was spliced out of a proportion of this patient's transcripts, providing further support for the proposal that nonsense mutations may alter splice site selection. Alternatively spliced transcripts which lacked exon 13 were detected in both patients and controls.
authors.affiliation: Division of Medical and Molecular Genetics, UMDS Guy's Hospital, London, UK.
authors.forename: R A
authors.initials: RA
authors.lastname: Gibson
authors.forename: A
authors.initials: A
authors.lastname: Hajianpour
authors.forename: M
authors.initials: M
authors.lastname: Murer-Orlando
authors.forename: M
authors.initials: M
authors.lastname: Buchwald
authors.forename: C G
authors.initials: CG
authors.lastname: Mathew
mesh_terms: D001483:Base Sequence; D018797:Cell Cycle Proteins; D004247:DNA / Q000235:genetics; D004268:DNA-Binding Proteins; D005091:Exons; D005199:Fanconi Anemia / Q000235:genetics*; D052218:Fanconi Anemia Complementation Group C Protein; D051856:Fanconi Anemia Complementation Group Proteins; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics; D012194:RNA-Directed DNA Polymerase; D014158:Transcription, Genetic
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C497651:FANCC protein, human; D052218:Fanconi Anemia Complementation Group C Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D011506:Proteins; D012333:RNA, Messenger; D004247:DNA; D012194:RNA-Directed DNA Polymerase