title: Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.
abstract: Fanconi anaemia (FA) is a chromosomal instability disorder associated with a high risk of acute myeloid leukaemia (AML). Previous work has shown that the AML cell line CHRF-288, derived from a sporadic AML-M7 patient, does not express FANCF protein and exhibits a cellular FA phenotype. We show that this phenotype is corrected by a FANCF-expressing plasmid and that the absence of FANCF protein is explained by hypermethylation of the promoter region of the FANCF gene. As FANCF is localized in a hot-spot region for somatic hypermethylation (11p15), FANCF silencing might be an early step in sporadic carcinogenesis, including leukaemogenesis.
authors: Department of Medical and Molecular Genetics, Division of Genetics and Development Guy's, King's and St Thomas's School of Medicine, King's College London, Guy's Hospital, London, UK.
authors: Marc
authors: M
authors: Tischkowitz
authors: Najim
authors: N
authors: Ameziane
authors: Quinten
authors: Q
authors: Waisfisz
authors: Johan P
authors: JP
authors: De Winter
authors: Richard
authors: R
authors: Harris
authors: Toshiyasu
authors: T
authors: Taniguchi
authors: Alan
authors: A
authors: D'Andrea
authors: Shirley V
authors: SV
authors: Hodgson
authors: Christopher G
authors: CG
authors: Mathew
authors: Hans
authors: H
authors: Joenje
mesh_terms: D000208:Acute Disease; D000483:Alleles; D045744:Cell Line, Tumor; D019175:DNA Methylation; D005199:Fanconi Anemia / Q000235:genetics; D052219:Fanconi Anemia Complementation Group F Protein; D020868:Gene Silencing; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C499901:FANCF protein, human; D052219:Fanconi Anemia Complementation Group F Protein; D016601:RNA-Binding Proteins