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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2001-5-18
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pubmed:abstractText |
A subset of childhood and young adult renal cell carcinomas displays a recurrent translocation t(X;17)(p11;q25) as the sole cytogenetic abnormality. In two young girls, we demonstrate that this translocation results in the fusion of a novel gene, designated RCC17, at chromosome 17q25, to the transcription factor TFE3 located on the Xp11 chromosomal region. In both cases, the t(X;17) fuses the NH(2)-terminal region of RCC17 to the COOH-terminal part of TFE3 including the basic helix-loop-helix DNA-binding domain and the leucine zipper dimerization domain. The reciprocal fusion transcript TFE3/RCC17 is also expressed. RCC17 encodes a putative protein of 553 amino acids. It is ubiquitously expressed in normal adult tissues. No significant similarity was found with other fusion partners of TFE3 or with any relevant functional protein domains, precluding informed speculation about the normal function of this gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0008-5472
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4130-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11358836-Amino Acid Sequence,
pubmed-meshheading:11358836-Artificial Gene Fusion,
pubmed-meshheading:11358836-Base Sequence,
pubmed-meshheading:11358836-Basic Helix-Loop-Helix Leucine Zipper Transcription Factors,
pubmed-meshheading:11358836-Carcinoma, Papillary,
pubmed-meshheading:11358836-Carcinoma, Renal Cell,
pubmed-meshheading:11358836-Child, Preschool,
pubmed-meshheading:11358836-Chromosomes, Human, Pair 17,
pubmed-meshheading:11358836-DNA-Binding Proteins,
pubmed-meshheading:11358836-Female,
pubmed-meshheading:11358836-Gene Expression,
pubmed-meshheading:11358836-Gene Order,
pubmed-meshheading:11358836-Humans,
pubmed-meshheading:11358836-Kidney Neoplasms,
pubmed-meshheading:11358836-Molecular Sequence Data,
pubmed-meshheading:11358836-Transcription Factors,
pubmed-meshheading:11358836-Translocation, Genetic,
pubmed-meshheading:11358836-X Chromosome
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pubmed:year |
2001
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pubmed:articleTitle |
Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas.
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pubmed:affiliation |
Department of Medical Genetics and Institute of Interdisciplinary Research, Faculty of Medicine, Free University of Brussels, 1070 Brussels, Belgium. pheimann@ulb.ac.be
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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