Ontology highlight
ABSTRACT:
SUBMITTER: Dey A
PROVIDER: S-EPMC5201002 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20120809 6101
De-ubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with increased risk of mesothelioma and uveal melanoma. Somatic BAP1 mutations occur in various malignancies. We show that mouse Bap1 gene deletion is lethal during embryogenesis, but systemic or hematopoietic-restricted deletion in adults recapitulates features of human myelodysplastic syndrome (MDS). Knockin mice expressing BAP1 with a 3xFlag tag revealed that BAP1 interacts with host cell factor-1 (HCF-1), O-linked N-ace ...[more]