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

276 Citations (Scopus)

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 2005
Externally publishedYes

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Fanconi Anemia
Fanconi Anemia Complementation Group Proteins
Breast Neoplasms
DNA Helicases
Ubiquitination
Western Blotting
Mutation
Proteins
Complementation Group D1 Fanconi Anemia
Complementation Group J Fanconi Anemia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., ... 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

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. / Levran, Orna; Attwooll, Claire; Henry, Rashida T.; Milton, Kelly L.; Neveling, Kornelia; Rio, Paula; Batish, Sat Dev; Kalb, Reinhard; Velleuer, Eunike; Barral, Sandra; Ott, Jurg; Petrini, John; Schindler, Detlev; Hanenberg, Helmut; Auerbach, Arleen D.

In: Nature Genetics, Vol. 37, No. 9, 09.2005, p. 931-933.

Research output: Contribution to journalArticle

Levran, O, Attwooll, C, Henry, RT, Milton, KL, Neveling, K, Rio, P, Batish, SD, Kalb, R, Velleuer, E, Barral, S, Ott, J, Petrini, J, Schindler, D, Hanenberg, H & Auerbach, AD 2005, 'The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia', Nature Genetics, vol. 37, no. 9, pp. 931-933. https://doi.org/10.1038/ng1624
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P et al. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nature Genetics. 2005 Sep;37(9):931-933. https://doi.org/10.1038/ng1624
Levran, Orna ; Attwooll, Claire ; Henry, Rashida T. ; Milton, Kelly L. ; Neveling, Kornelia ; Rio, Paula ; Batish, Sat Dev ; Kalb, Reinhard ; Velleuer, Eunike ; Barral, Sandra ; Ott, Jurg ; Petrini, John ; Schindler, Detlev ; Hanenberg, Helmut ; Auerbach, Arleen D. / The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. In: Nature Genetics. 2005 ; Vol. 37, No. 9. pp. 931-933.
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