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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
- Source :
-
Nature genetics [Nat Genet] 2005 Sep; Vol. 37 (9), pp. 934-5. Date of Electronic Publication: 2005 Aug 21. - Publication Year :
- 2005
-
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.
- Subjects :
- Fanconi Anemia Complementation Group Proteins
Genetic Complementation Test
Humans
Microsatellite Repeats
Molecular Sequence Data
Sequence Deletion
Chromosomes, Human, Pair 17
DNA-Binding Proteins deficiency
DNA-Binding Proteins genetics
Fanconi Anemia genetics
Mutation genetics
RNA Helicases deficiency
RNA Helicases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 37
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 16116423
- Full Text :
- https://doi.org/10.1038/ng1625