Renee Li
Pronouns: She/Her
Research Mentor(s): Dan Robinson
Co-Presenter:
Research Mentor School/College/Department: Pathology – MCTP / Medicine
Presentation Date: April 20
Presentation Type: Poster
Session: Session 1 – 10am – 10:50am
Room: League Ballroom
Authors:
Presenter: 43
Abstract
Sarcomas are a type of cancer that starts in the bones and tissues with an annual incidence of 12,000 cases. Through a clinical sequencing program called Mi-OncoSeq, a case of spindle cell sarcoma was sequenced and analyzed for gene fusions. An in-frame fusion between NR1D1 and MAML2 was detected. NR1D1 (nuclear receptor subfamily 1 group D member 1) is a member of the protein-coding genes, which encodes a transcription factor that belongs to the nuclear receptor family. This protein represses the circadian clock of ARNTL, which is a transcription factor. It has not been previously identified as a cancer driver. MAML2 is a transcriptional coactivator, a member of the protein-coding family of genes, which encodes a mastermind-like family of proteins. MAML2 (mastermind like transcriptional coactivator 2) is a known fusion partner in several cancers, including lung cancer, breast cancer, cervical cancer, etc. High levels of MAML2 have been observed in lymphomas, carcinomas, and leukemia. We have cloned the NR1D1-MAML2 fusion from our index case and generated expression constructs in a lentiviral vector. Infection of fibroblasts with the NR1D1-MAML2 expressing lentivirus resulted in enhanced cell proliferation in vitro and increased tumorigenicity in mice. RNA-Seq analysis, along with ChIP-Seq identified sets of target genes regulated by the NRID1-MAML2 fusion.
Biomedical Sciences, Natural/Life Sciences
