| http://purl.uniprot.org/citations/8634710 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8634710 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8634710 | http://www.w3.org/2000/01/rdf-schema#comment | "The FKHR gene, which contains a forkhead DNA-binding motif, is fused to either PAX3 or PAX7 by the t(2;13) or t(1;13) translocation in alveolar rhabdomyosarcoma,respectively. These tumors express chimeric transcripts encoding the N-terminal portion of either PAX protein fused to the C-terminal portion of FKHR. To understand the structural basis and functional consequences of these translocations, we characterized the wild-type FKHR gene and its rearrangement in alveolar rhabdomyosarcomas. By isolating and analyzing phage, cosmid and YAC clones, we determined that FKHR consists of three exons spanning 140 kb and that several highly similar loci are present in other genomic regions. Exon 1 encodes the N-terminus of the forkhead domain and is embedded within demethylated CpG island. RNA analyses reveal FKHR transcripts initiate from a TATA-less promoter within this island. Exon 2 encodes the C-terminus of the forkhead domain and a transcription activation domain, whereas exon 3 encodes a large 3' untranslated region. The intron 1-exon 2 boundary precisely matches the FHKR fusion point in the chimeric transcripts found in alveolar rhabdomyosarcomas. Using pulsed-field and fluorescence in situ hybridization analyses, we demonstrate that the 130kb FKHR intron 1 is rearranged in t(2;13)-containing alveolar rhabdomyosarcomas. Our findings indicate that FKHR intron 1 provides a large target for DNA rearrangemnt. Rearrangement of this intron with PAX3 produces two important functional consequences: in-frame fusion of N-terminal PAX3 sequences to the FKHR transcriptional activation domain and disruption of the FKHR DNA binding domain."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/4.12.2355"xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/4.12.2355"xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Davis R.J."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Davis R.J."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Biegel J.A."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Biegel J.A."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Nycum L.M."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Nycum L.M."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Barr F.G."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Barr F.G."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Macina R.A."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Macina R.A."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Bennicelli J.L."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/author | "Bennicelli J.L."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/pages | "2355-2362"xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/pages | "2355-2362"xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/title | "Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma."xsd:string |
| http://purl.uniprot.org/citations/8634710 | http://purl.uniprot.org/core/title | "Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma."xsd:string |