Abstract
Although the t(2;13)(q35;q14) translocation has been found in most cases of the pediatric cancer alveolar rhabdomyosarcoma, several cases have been reported with a variant t(1;13)(p36;q14) translocation. Our findings indicate that this t(1;13) rearranges PAX7 on chromosome 1 and fuses it to FKHR on chromosome 13. This fusion results in a chimeric transcript consisting of 5' PAX7 and 3' FKHR regions, which is similar to the 5' PAX3-3' FKHR transcript formed by the t(2;13). The 5' PAX3 and PAX7 regions encode related DNA binding domains, and therefore we postulate that these translocations create similar chimeric transcription factors that alter expression of a common group of target genes.
Publication types
- Research Support, Non-U.S. Gov't
- Research Support, U.S. Gov't, P.H.S.
MeSH terms
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 1*
- Chromosomes, Human, Pair 13*
- DNA-Binding Proteins / chemistry
- DNA-Binding Proteins / genetics*
- Forkhead Box Protein O1
- Forkhead Transcription Factors
- Homeodomain Proteins*
- Humans
- Infant
- Male
- Molecular Sequence Data
- Muscle Proteins / chemistry
- Muscle Proteins / genetics*
- Neoplasm Proteins / chemistry
- Neoplasm Proteins / genetics*
- Nerve Tissue Proteins / chemistry
- Nerve Tissue Proteins / genetics*
- PAX7 Transcription Factor
- Recombinant Fusion Proteins / chemistry
- Recombinant Fusion Proteins / genetics
- Rhabdomyosarcoma, Alveolar / chemistry
- Rhabdomyosarcoma, Alveolar / genetics*
- Transcription Factors / chemistry
- Transcription Factors / genetics*
- Translocation, Genetic / genetics*
Substances
- DNA-Binding Proteins
- FOXO1 protein, human
- Forkhead Box Protein O1
- Forkhead Transcription Factors
- Homeodomain Proteins
- Muscle Proteins
- Neoplasm Proteins
- Nerve Tissue Proteins
- PAX7 Transcription Factor
- PAX7 protein, human
- Recombinant Fusion Proteins
- Transcription Factors