The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia - PubMed (original) (raw)

doi: 10.1038/ng1624. Epub 2005 Aug 21.

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

Affiliations

• PMID: 16116424
• DOI: 10.1038/ng1624

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Orna Levran et al. Nat Genet. 2005 Sep.

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.

PubMed Disclaimer

Comment in

• Unraveling the Fanconi anemia-DNA repair connection.
  Thompson LH. Thompson LH. Nat Genet. 2005 Sep;37(9):921-2. doi: 10.1038/ng0905-921. Nat Genet. 2005. PMID: 16132046 No abstract available.

Similar articles

• The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
  Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. Levitus M, et al. Nat Genet. 2005 Sep;37(9):934-5. doi: 10.1038/ng1625. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116423
• Evaluation of Fanconi Anemia genes in familial breast cancer predisposition.
  Seal S, Barfoot R, Jayatilake H, Smith P, Renwick A, Bascombe L, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N; Breast Cancer Susceptibility Collaboration. Seal S, et al. Cancer Res. 2003 Dec 15;63(24):8596-9. Cancer Res. 2003. PMID: 14695169
• FANCE: the link between Fanconi anaemia complex assembly and activity.
  Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M, de Winter J, Joenje H, Gergely F, Patel KJ. Pace P, et al. EMBO J. 2002 Jul 1;21(13):3414-23. doi: 10.1093/emboj/cdf355. EMBO J. 2002. PMID: 12093742 Free PMC article.
• Molecular biology of Fanconi anaemia--an old problem, a new insight.
  Ahmad SI, Hanaoka F, Kirk SH. Ahmad SI, et al. Bioessays. 2002 May;24(5):439-48. doi: 10.1002/bies.10082. Bioessays. 2002. PMID: 12001267 Review.
• Molecular pathogenesis of fanconi anemia.
  Taniguchi T, Dandrea AD. Taniguchi T, et al. Int J Hematol. 2002 Feb;75(2):123-8. doi: 10.1007/BF02982016. Int J Hematol. 2002. PMID: 11939257 Review.

Cited by

• Understanding genetic variations associated with familial breast cancer.
  Pal M, Das D, Pandey M. Pal M, et al. World J Surg Oncol. 2024 Oct 10;22(1):271. doi: 10.1186/s12957-024-03553-9. World J Surg Oncol. 2024. PMID: 39390525 Free PMC article. Review.
• Systematic investigation of BRCA1-A, -B, and -C complexes and their functions in DNA damage response and DNA repair.
  Li S, Tang M, Xiong Y, Feng X, Wang C, Nie L, Huang M, Zhang H, Yin L, Zhu D, Yang C, Ma T, Chen J. Li S, et al. Oncogene. 2024 Aug;43(35):2621-2634. doi: 10.1038/s41388-024-03108-y. Epub 2024 Jul 27. Oncogene. 2024. PMID: 39068216
• G-quadruplex-mediated genomic instability drives SNVs in cancer.
  Richl T, Kuper J, Kisker C. Richl T, et al. Nucleic Acids Res. 2024 Mar 21;52(5):2198-2211. doi: 10.1093/nar/gkae098. Nucleic Acids Res. 2024. PMID: 38407356 Free PMC article.
• FANCJ DNA helicase is recruited to the replisome by AND-1 to ensure genome stability.
  Boavida A, Napolitano LM, Santos D, Cortone G, Jegadesan NK, Onesti S, Branzei D, Pisani FM. Boavida A, et al. EMBO Rep. 2024 Feb;25(2):876-901. doi: 10.1038/s44319-023-00044-y. Epub 2024 Jan 2. EMBO Rep. 2024. PMID: 38177925 Free PMC article.
• BRCA1 the Versatile Defender: Molecular to Environmental Perspectives.
  Zhong AX, Chen Y, Chen PL. Zhong AX, et al. Int J Mol Sci. 2023 Sep 19;24(18):14276. doi: 10.3390/ijms241814276. Int J Mol Sci. 2023. PMID: 37762577 Free PMC article. Review.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group

• Other Literature Sources

  • The Lens - Patent Citations

• Molecular Biology Databases

  • GlyGen glycoinformatics resource
  • The Weizmann Institute of Science GeneCards and MalaCards databases

• Research Materials

  • NCI CPTC Antibody Characterization Program

• Miscellaneous

  • NCI CPTAC Assay Portal