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Updated: Jul 16, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
UTRN on chromosome 6q24 is mutated in multiple tumors
1Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Utrophin (UTRN) functions as a tumor suppressor gene. UTRN downregulation and mutations are linked to various cancers, including breast cancer, neuroblastoma, and melanoma.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Chromosome 6q deletions are common in tumors, but the specific genes involved remain unclear.
- Identifying tumor suppressor genes is crucial for understanding cancer development.
Purpose of the Study:
- To identify the targeted gene(s) responsible for tumor suppressor activity associated with chromosome 6q deletions.
- To investigate the role of UTRN (utrophin) as a potential tumor suppressor gene.
Main Methods:
- Functional screening approach to identify genes inducing cellular transformation.
- Gene expression analysis using Northern blot, RT-PCR, and gene arrays.
- Mutation analysis via RT-PCR and in vitro transcription/translation assays.
- In vitro and in vivo tumor growth assays with UTRN overexpression.
Main Results:
- UTRN expression was downregulated in primary tumors compared to normal tissues.
- Inactivation mutations in UTRN were identified in breast cancers, neuroblastomas, and malignant melanomas.
- Overexpression of wild-type UTRN inhibited tumor cell growth in vitro and reduced tumor potential in vivo.
Conclusions:
- UTRN is a candidate tumor suppressor gene.
- Specific targeting and inactivation of UTRN contribute to tumorigenesis.
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