The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Orna Levran, Claire Attwooll, Rashida T. Henry, Kelly L. Milton, Kornelia Neveling, Paula Rio, Sat Dev Batish, Reinhard Kalb, Eunike Velleuer, Sandra Barral, Jurg Ott, John Petrini, Detlev Schindler, Helmut Hanenberg, Arleen D. Auerbach

Research output: Contribution to journalArticle

279 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)931-933
Number of pages3
JournalNature genetics
Volume37
Issue number9
DOIs
StatePublished - Sep 1 2005

ASJC Scopus subject areas

  • Genetics

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    Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleuer, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., & Auerbach, A. D. (2005). The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nature genetics, 37(9), 931-933. https://doi.org/10.1038/ng1624