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Molecular analysis of a t(II;22) translocation junction in a case of Ewing's sarcoma
Author(s) -
Bhagirath Thounaojam,
Abe Syuiti,
Nojirna Takayuki,
Yoshida Michihiro C.
Publication year - 1995
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870130209
Subject(s) - biology , intron , exon , chromosomal translocation , genetics , gene , breakpoint , microbiology and biotechnology , genomic dna
Polymerase chain reaction (PCR)‐directed sequence analysis was performed to characterize the genomic and cDNA breakpoint junctions of t(11; 22) (q24; q12) translocation in a case of Ewing's sarcoma, in which the EWS gene located on chromosome 22 is rearranged with the FLII gene located on chromosome 11. RNA‐PCR revealed the novel chimeric product of EWS/FLII gene on the derivative chromosome (der) 22, resulting from a probable fusion of EWS exon 7 to FLII exon 9. Sequencing of the PCR‐amplified genomic fragments of the fusion genes showed that the breakpoints on der(22) occurred in EWS intron 7 and, most probably, in FLII intron 8. Those of the untranxribed counterpart on der(11) were located in the same FLII intron and in EWS exon 11, with deletion of a considerable amount of sequences from both genes. These findings indicate asymmetric junction at the molecular level in the present t(11; 22). None of the reported conserved sequences that mediate other cancer chromosome translocations was observed around the genomic junctions. Instead, a palindromic hexamer 5′‐GCTAGC‐3′ was found to flank the breakpoints of both genes on der(22), which may have a functional significance in the genesis of the t(11; 22). © 1995 Wiley‐Liss, Inc.