Fusion of the transcription factor TFE3 gene to a novel gene, PRCC, in t(X;1)(p11;q21)-positive papillary renal cell carcinomas.
The (X;1)(p11;q21) translocation is a recurrent chromosomal abnormality in a subset of human papillary renal cell carcinomas, and is sometimes the sole cytogenetic abnormality present. Via positional cloning, we were able to identify the genes involved. The translocation results in a fusion of the transcription factor TFE3 gene on the X chromosome to a novel gene, designated PRCC, on chromosome 1. Through this fusion, reciprocal translocation products are formed, which are both expressed in papillary renal cell carcinomas. PRCC is ubiquitously expressed in normal adult and fetal tissues and encodes a putative protein of 491 aa with a relatively high content of prolines. No relevant homologies with known sequences at either the DNA or the protein level were found.
Weterman
M A
MA
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Wilbrink
M
M
Geurts van Kessel
A
A
D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002291:Carcinoma, Papillary / Q000235:genetics*; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D006224:Cricetinae; D004268:DNA-Binding Proteins / Q000235:genetics*; D005333:Fetus; D015870:Gene Expression; D006801:Humans; D006822:Hybrid Cells; D007680:Kidney Neoplasms / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009124:Muscle Proteins; D009363:Neoplasm Proteins; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics*; D000091262:TEA Domain Transcription Factors; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C103189:Fv1 protein, mouse; D009124:Muscle Proteins; D009363:Neoplasm Proteins; C415042:PRCC protein, human; C498808:Prcc protein, mouse; D011506:Proteins; D000091262:TEA Domain Transcription Factors; C486309:TEAD4 protein, human; C100498:TEFR1 protein, isoform b, mouse; C101204:Tead4 protein, mouse; D015534:Trans-Activators; D014157:Transcription Factors