The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

Nat Genet. 2005 Sep;37(9):934-5. doi: 10.1038/ng1625. Epub 2005 Aug 21.

Abstract

The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.

MeSH terms

  • Chromosomes, Human, Pair 17*
  • DNA-Binding Proteins / deficiency*
  • DNA-Binding Proteins / genetics*
  • Fanconi Anemia / genetics*
  • Fanconi Anemia Complementation Group Proteins
  • Genetic Complementation Test
  • Humans
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Mutation / genetics*
  • RNA Helicases / deficiency*
  • RNA Helicases / genetics*
  • Sequence Deletion

Substances

  • DNA-Binding Proteins
  • Fanconi Anemia Complementation Group Proteins
  • BRIP1 protein, human
  • RNA Helicases

Associated data

  • RefSeq/NM_032043
  • RefSeq/NP_114432