FUSION OF A FORK HEAD DOMAIN GENE TO PAX3 IN THE SOLID TUMOR ALVEOLAR RHABDOMYOSARCOMA

被引：780

作者：

GALILI, N

DAVIS, RJ

FREDERICKS, WJ

MUKHOPADHYAY, S

RAUSCHER, FJ

EMANUEL, BS

ROVERA, G

BARR, FG

机构：

[1] UNIV PENN,SCH MED,DEPT PATHOL & LAB MED,PHILADELPHIA,PA 19104

[2] WISTAR INST ANAT & BIOL,PHILADELPHIA,PA 19104

[3] CHILDRENS HOSP,DIV HUMAN GENET & MOLEC BIOL,PHILADELPHIA,PA 19104

来源：

NATURE GENETICS | 1993年 / 5卷 / 03期

关键词：

D O I：

10.1038/ng1193-230

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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页码：230 / 235

页数：6

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