Cloning of cDNAs for Fanconi's anaemia by functional complementation.
Fanconi's anaemia is a rare autosomal recessive disorder characterized by progressive pancytopaenia and a cellular hypersensitivity to DNA crosslinking agents. Four genetic complementation groups have been identified so far, and here we use a functional complementation method to clone complementary DNAs that correct the defect of group C cells. The cDNAs encode alternatively processed transcripts of a new gene, designated FACC, which is mutated in group C patients. The predicted FACC polypeptide does not contain any motifs common to other proteins and so represents a new gene involved in the cellular response to DNA damage.
Strathdee
C A
CA
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Gavish
H
H
Shannon
W R
WR
Buchwald
M
M
D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002460:Cell Line; D002470:Cell Survival / Q000187:drug effects; D003001:Cloning, Molecular / Q000379:methods*; D004305:Dose-Response Relationship, Drug; D004351:Drug Resistance; D004852:Epoxy Compounds / Q000494:pharmacology; D005199:Fanconi Anemia / Q000235:genetics*; D015723:Gene Library; D005816:Genetic Complementation Test; D006801:Humans; D016685:Mitomycin; D008969:Molecular Sequence Data; D009153:Mutagens / Q000494:pharmacology; D009154:Mutation; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D014162:Transfection
D004852:Epoxy Compounds; D009153:Mutagens; D016685:Mitomycin; C007366:diepoxybutane