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International Journal of Hematology

, Volume 75, Issue 2, pp 123–128 | Cite as

Molecular Pathogenesis of Fanconi Anemia

  • Toshiyasu Taniguchi
  • Alan D. D’Andrea
Progress in Hematology

Abstract

Fanconi anemia (FA) is a rare autosomal recessive chromosomal breakage disorder characterized by the childhood onset of aplastic anemia, developmental defects, cancer susceptibility, and cellular hypersensitivity to DNA—cross-linking agents. FA patients can be divided into at least 8 complementation groups (FA-A, FA-B, FA-C, FA-D1, FA-D2, FA-E, FA-F, and FA-G). FA proteins encoded by 6 cloned FA genes (FANCA,FANCC,FANCD2,FANCE,FANCF, andFANCG) cooperate in a common pathway, culminating in the monoubiquitination of FANCD2 protein and colocalization of FANCD2 and BRCA1 proteins in nuclear foci. These BRCA1 foci have been implicated in the process of homologous recombination-mediated DNA repair. In this review, we will summarize the current progress in the field of FA research and highlight some of the potential functions of the FA pathway in DNA-damage response.

Key words

Fanconi anemia Checkpoint DNA repair Ubiquitin BRCA1 

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Copyright information

© The Japanese Society of Hematology 2002

Authors and Affiliations

  1. 1.Department of Pediatric OncologyDana-Farber Cancer InstituteBoston, MassachusettsUSA

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