Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

Mutations of the SLX4 gene in Fanconi anemia.

Fanconi anemia is a rare recessive disorder characterized by genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignancies and solid tumors. At the cellular level, hypersensitivity to DNA interstrand crosslinks is the defining feature in Fanconi anemia. Mutations in thirteen distinct Fanconi anemia genes have been shown to interfere with the DNA-replication-dependent repair of lesions involving crosslinked DNA at stalled replication forks. Depletion of SLX4, which interacts with multiple nucleases and has been recently identified as a Holliday junction resolvase, results in increased sensitivity of the cells to DNA crosslinking agents. Here we report the identification of biallelic SLX4 mutations in two individuals with typical clinical features of Fanconi anemia and show that the cellular defects in these individuals' cells are complemented by wildtype SLX4, demonstrating that biallelic mutations in SLX4 (renamed here as FANCP) cause a new subtype of Fanconi anemia, Fanconi anemia-P.

Pubmed ID: 21240275


  • Kim Y
  • Lach FP
  • Desetty R
  • Hanenberg H
  • Auerbach AD
  • Smogorzewska A


Nature genetics

Publication Data

February 28, 2011

Associated Grants

  • Agency: NCI NIH HHS, Id: R01 CA155294
  • Agency: NCRR NIH HHS, Id: UL1 RR024143
  • Agency: NCRR NIH HHS, Id: UL1 RR024143-03

Mesh Terms

  • Alleles
  • Cell Line, Tumor
  • Cross-Linking Reagents
  • DNA
  • DNA Mutational Analysis
  • Fanconi Anemia
  • Female
  • Genetic Complementation Test
  • Genetic Predisposition to Disease
  • Holliday Junction Resolvases
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Recombinases