Ontology highlight
ABSTRACT:
SUBMITTER: Li M
PROVIDER: S-EPMC5090706 | biostudies-other | 2016 Nov
REPOSITORIES: biostudies-other
Li Minxing M Cole Francesca F Patel Dharm S DS Misenko Sarah M SM Her Joonyoung J Malhowski Amy A Alhamza Ali A Zheng Haiyan H Baer Richard R Ludwig Thomas T Jasin Maria M Nussenzweig André A Serrano Lourdes L Bunting Samuel F SF
EMBO reports 20160926 11
BRCA1 mutations strongly predispose affected individuals to breast and ovarian cancer, but the mechanism by which BRCA1 acts as a tumor suppressor is not fully understood. Homozygous deletion of exon 2 of the mouse Brca1 gene normally causes embryonic lethality, but we show that exon 2-deleted alleles of Brca1 are expressed as a mutant isoform that lacks the N-terminal RING domain. This "RING-less" BRCA1 protein is stable and efficiently recruited to the sites of DNA damage. Surprisingly, robust ...[more]