The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-09

AUTHORS

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

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. More... »

PAGES

931-933

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1624

DOI

http://dx.doi.org/10.1038/ng1624

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1051822147

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16116424


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