The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Top Cited Papers
- 21 August 2005
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 37 (9) , 931-933
- https://doi.org/10.1038/ng1624
Abstract
Seven Fanconi anemia–associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination. Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1.Keywords
This publication has 11 references indexed in Scilit:
- X-linked inheritance of Fanconi anemia complementation group BNature Genetics, 2004
- Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypesBlood, 2004
- The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutationsProceedings of the National Academy of Sciences, 2004
- RAD51C Is Required for Holliday Junction Processing in Mammalian CellsScience, 2004
- A novel ubiquitin ligase is deficient in Fanconi anemiaNature Genetics, 2003
- Mutational analysis of theBRCA1-interacting genesZNF350/ZBRK1andBRIP1/BACH1amongBRCA1andBRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individualsHuman Mutation, 2003
- A 20-year perspective on the International Fanconi Anemia Registry (IFAR)Blood, 2003
- Biallelic Inactivation of BRCA2 in Fanconi AnemiaScience, 2002
- BACH1, a Novel Helicase-like Protein, Interacts Directly with BRCA1 and Contributes to Its DNA Repair FunctionPublished by Elsevier ,2001
- Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common PathwayPublished by Elsevier ,2001