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Molecular cloning of the breakpoint for 3q27 translocation in B-cell
lymphomas and leukemias
T Miki, N Kawamata, A Arai, K Ohashi, Y Nakamura, A Kato, S Hirosawa and N Aoki
First Department of Internal Medicine, Tokyo Medical and Dental University,
Japan.
Reciprocal exchanges between chromosomal region 3q27 and three loci of the
Ig genes have been reported in cases of B-cell type non-Hodgkin's lymphoma.
We have cloned a region containing a breakpoint junction of 3q27 from a
cell line established from a patient with Burkitt's lymphoma carrying
t(3;22)(q27;q11). The region cloned was shown to contain an Ig lambda light
chain gene fused to a gene on chromosome 3q27. This finding was
subsequently confirmed by fluorescence in situ hybridization. Extra
nucleotides were present at the joining site. The heptamer-like and
nonamer-like sequences separated by an intervening 24 bp were present in
the region corresponding to the breakpoint of 3q27, suggesting that a
misrecombination in Ig gene rearrangement may be involved in the
translocation. Southern blot analysis with a 3q27- specific probe showed
rearrangements in three additional patients with B-cell malignancies with
the t(3;14)(q27;q32). The breakpoints of all four cases clustered within a
limited 3-kb region on chromosome 3q27. The region of 3q27 involved in the
translocation was designated as the BCL5 locus. The transcripts from the
BCL5 locus were detected in normal tissues and hematopoietic cell lines,
and the increased expression of transcript of aberrant size was detected in
the established cell line carrying t(3;22). These observations suggest that
a gene located at 3q27 is involved in the translocation and that its
deregulation plays a role in the malignant transformation of B cells.
Volume 83,
Issue 1,
pp. 217-222,
01/01/1994
Copyright © 1994 by The American Society of Hematology

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