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Molecular analysis of the chromosomal breakpoint and fusion transcripts in the acute lymphoblastic SEM cell line with chromosomal translocation t(4;ll)
Author(s) -
MARSCHALEK R.,
GREIL J.,
LOCHNER K.,
NILSON I.,
SIEGLER G.,
ZWECKBRONNER I.,
BECK J. D.,
FEY G. H.
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb05151.x
Subject(s) - breakpoint , chromosomal translocation , exon , biology , microbiology and biotechnology , intron , gene , genetics , derivative chromosome , fusion gene , alternative splicing , chromosome , chromosome 22
Summary. The chromosomal breakpoint and fusion transcripts of the pre‐B‐Ieukaemia‐derived SEM cell line carrying a reciprocal t(4;ll)(q21;q23) translocation were analysed. The breakpoint from derivative chromosome der4 was cloned and sequenced. The crossover site was localized in intron 7 of the ALL‐1 gene on chromosome llq23 and in a large intron of the AF‐4 (FEL) gene. RNA transcripts from both wild‐type genes and both hybrid genes were detected by reverse transcriptase polymerase chain reaction (RT‐PCR) assays. In addition, alternatively spliced mRNA species derived from the der4 chromosome were found. They were generated by using the exon 5’of the breakpoint on der4 as a common splice donor site and the 5’boundaries of exons 8 or 9 of the ALL‐1 gene as alternative splice acceptor sites. The hypothesis is proposed that selective pressure operators to maintain the presence of both derivative chromosomes as important elements in the leukaemogenic process.