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 abnormalit y in a subset of human papillary renal cell carcinomas, and is sometim es the sole cytogenetic abnormality present. Via positional cloning, w e 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 express ed in papillary renal cell carcinomas, PRCC is ubiquitously expressed in normal adult and fetal tissues and encodes a putative protein of 49 1 aa with a relatively high content of prolines. No relevant homologie s with known sequences at either the DNA or the protein level were fou nd.