Jg. Chalk et al., TRANSLIN RECOGNITION SITE SEQUENCES FLANK CHROMOSOME-TRANSLOCATION BREAKPOINTS IN ALVEOLAR RHABDOMYOSARCOMA CELL-LINES, Oncogene, 15(10), 1997, pp. 1199-1205
Alveolar rhabdomyosarcoma is characterized by a t(2;13)(q35;q14) chrom
osome translocation, which leads to the fusion of the PAX3 and the FKH
R genes, The resulting fusion gene encodes a chimeric protein which ha
s aberrant transcriptional activity, We report the molecular definitio
n of the genomic breakpoints on both derivative chromosomes in one cas
e and the derivative chromosome 13 breakpoints in two other cases, The
DNA sequences adjacent to the breakpoints on the derivative chromosom
e 13 are remarkable for their resemblance to recognition sequences for
the protein translin. Gel shift analyses confirm that these sequences
bind translin, These findings suggest that translin may not only be i
mportant in the genesis of chromosomal translocations in lymphoid mali
gnancy, but also in translocations found in solid tumours.