The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Academic Article uri icon

Overview

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.

publication date

  • August 21, 2005

Research

keywords

  • Chromosomes, Human, Pair 17
  • DNA-Binding Proteins
  • Fanconi Anemia
  • Mutation
  • Polymorphism, Single Nucleotide
  • RNA Helicases
  • Ubiquitin

Identity

Scopus Document Identifier

  • 25144497571

Digital Object Identifier (DOI)

  • 10.1038/ng1624

PubMed ID

  • 16116424

Additional Document Info

volume

  • 37

issue

  • 9