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FUSION OF A FORK HEAD DOMAIN GENE TO PAX3 IN THE SOLID TUMOR ALVEOLAR RHABDOMYOSARCOMA
Author(s): GALILI N, DAVIS RJ, FREDERICKS WJ, MUKHOPADHYAY S, RAUSCHER FJ, EMANUEL BS, ROVERA G, BARR FG
Source: NATURE GENETICS    Volume: 5    Issue: 3    Pages: 230-235    Published: NOV 1993  
Times Cited: 495     References: 29     
Abstract: We have examined the structure and expression of the products associated with the t(2;13)(q35;q14) translocation associated with alveolar rhabdomyosarcoma. The chromosome 13 gene (FKHR) is identified as a member of the fork head domain family of transcription factors characterized by a conserved DNA binding motif. Polymerase chain reaction analysis demonstrates that a 5' PAX3-3' FKHR chimaeric transcript is expressed in all eight alveolar rhabdomyosarcomas investigated. Immunoprecipitation experiments detect the predicted fusion protein. These findings indicate that the t(2;13) generates a potentially tumorigenic fusion transcription factor consisting of intact PAX3 DNA binding domains, a truncated fork head DNA binding domain and C-terminal FKHR regions.
Document Type: Article
Language: English
Addresses:
1. UNIV PENN, SCH MED, DEPT PATHOL & LAB MED, PHILADELPHIA, PA 19104 USA
2. WISTAR INST ANAT & BIOL, PHILADELPHIA, PA 19104 USA
3. CHILDRENS HOSP, DIV HUMAN GENET & MOLEC BIOL, PHILADELPHIA, PA 19104 USA
Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707
Subject Category: Genetics & Heredity
IDS Number: MF122
ISSN: 1061-4036
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