title: The emerging genetic and molecular basis of Fanconi anaemia.
abstract: The past few years have witnessed a considerable expansion in our understanding of the pathways that maintain chromosome stability in dividing cells through the identification of genes that are mutated in certain human chromosome instability disorders. Cells that are derived from patients with Fanconi anaemia (FA) show spontaneous chromosomal instability and mutagen hypersensitivity, but FA poses a unique challenge as the nature of the DNA-damage-response pathway thought to be affected by the disease has long been a mystery. However, the recent cloning of most of the FA-associated genes, and the characterization of their protein products, has provided tantalizing clues as to the molecular basis of this disease.
authors.affiliation: Department of Clinical Genetics and Human Genetics, and Oncology Research Institute, Free University Medical Centre, Van der Boechorststraat 7, NL-1081 BT, Amsterdam, The Netherlands. H.Joenje.HumGen@med.vu.nl
authors.forename: H
authors.initials: H
authors.lastname: Joenje
authors.forename: K J
authors.initials: KJ
authors.lastname: Patel
mesh_terms: D000818:Animals; D003001:Cloning, Molecular; D004249:DNA Damage; D004195:Disease Models, Animal; D005199:Fanconi Anemia / Q000235:genetics*; D018740:Genetic Heterogeneity; D015316:Genetic Therapy; D006801:Humans; D009030:Mosaicism