The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia Journal Article

  


Authors: 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.
Article Title: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
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. © 2005 Nature Publishing Group.
Keywords: dna binding protein; gene mutation; single nucleotide polymorphism; genetics; mutation; dna-binding proteins; polymorphism, single nucleotide; ubiquitin; binding affinity; cell cycle protein; metabolism; cell cycle proteins; breast cancer; anemia; nuclear protein; protein protein interaction; brca1 protein; microsatellite dna; nuclear proteins; pedigree; gene mapping; oncogene; blotting, western; ubiquitination; gene interaction; western blotting; cell nucleus; helicase; tumor suppressor protein; rna helicase; rna helicases; chromosome 17; microsatellite repeats; fanconi anemia; fanconi anemia group d2 protein; fanconi anemia complementation group d2 protein; chromosomes, human, pair 17; fanconi anemia group c protein; fanconi anemia protein; brip1 protein, human; fancc protein, human; fancd2 protein, human; fanconi anemia complementation group c protein; fanconi anemia complementation group proteins
Journal Title: Nature Genetics
Volume: 37
Issue: 9
ISSN: 1061-4036
Publisher: Nature Publishing Group  
Date Published: 2005-01-01
Start Page: 931
End Page: 933
Language: English
DOI: 10.1038/ng1624
PUBMED: 16116424
PROVIDER: scopus
DOI/URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-25144497571&partnerID=40&md5=501f326d110701d9c2694f59b87e5c23
Notes: --- - "Cited By (since 1996): 171" - "Export Date: 24 October 2012" - "CODEN: NGENE" - "Source: Scopus"
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MSK Authors
  1. Claire Louise Attwooll
    3 Attwooll
  2. John Petrini
    94 Petrini
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