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
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Chromosomes, Human, Pair 1*
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Chromosomes, Human, Pair 13*
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DNA-Binding Proteins / chemistry
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DNA-Binding Proteins / genetics*
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Forkhead Box Protein O1
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Forkhead Transcription Factors
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Homeodomain Proteins*
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Humans
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Infant
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Male
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Molecular Sequence Data
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Muscle Proteins / chemistry
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Muscle Proteins / genetics*
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Neoplasm Proteins / chemistry
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Neoplasm Proteins / genetics*
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Nerve Tissue Proteins / chemistry
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Nerve Tissue Proteins / genetics*
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PAX7 Transcription Factor
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Recombinant Fusion Proteins / chemistry
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Recombinant Fusion Proteins / genetics
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Rhabdomyosarcoma, Alveolar / chemistry
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Rhabdomyosarcoma, Alveolar / genetics*
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Transcription Factors / chemistry
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Transcription Factors / genetics*
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Translocation, Genetic / genetics*
Substances
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DNA-Binding Proteins
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FOXO1 protein, human
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Forkhead Box Protein O1
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Forkhead Transcription Factors
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Homeodomain Proteins
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Muscle Proteins
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Neoplasm Proteins
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Nerve Tissue Proteins
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PAX7 Transcription Factor
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PAX7 protein, human
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Recombinant Fusion Proteins
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Transcription Factors