Ontology highlight
ABSTRACT:
SUBMITTER: Jeyasekharan AD
PROVIDER: S-EPMC3796201 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Jeyasekharan Anand D AD Liu Yang Y Hattori Hiroyoshi H Pisupati Venkat V Jonsdottir Asta Bjork AB Rajendra Eeson E Lee Miyoung M Sundaramoorthy Elayanambi E Schlachter Simon S Kaminski Clemens F CF Ofir-Rosenfeld Yaara Y Sato Ko K Savill Jane J Ayoub Nabieh N Venkitaraman Ashok R AR
Nature structural & molecular biology 20130908 10
Germline missense mutations affecting a single BRCA2 allele predispose humans to cancer. Here we identify a protein-targeting mechanism that is disrupted by the cancer-associated mutation, BRCA2(D2723H), and that controls the nuclear localization of BRCA2 and its cargo, the recombination enzyme RAD51. A nuclear export signal (NES) in BRCA2 is masked by its interaction with a partner protein, DSS1, such that point mutations impairing BRCA2-DSS1 binding render BRCA2 cytoplasmic. In turn, cytoplasm ...[more]