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Dual transcription of b2a2 and b3a2 BCR–ABL transcripts in chronic myeloid leukaemia is confined to patients with a linked polymorphism within the BCR gene
Author(s) -
Branford Susan,
Hughes Timothy P.,
Rudzki Zbigniew
Publication year - 2002
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 - 10.1046/j.1365-2141.2002.03508.x
Subject(s) - breakpoint cluster region , biology , exon , allele , intron , genetics , rna splicing , alternative splicing , cancer research , gene , rna
Summary. We propose a mechanism for dual expression of b2a2 and b3a2 BCR–ABL in chronic myeloid leukaemia (CML). We have identified a BCR allele, present in approximately 29% of the population, which includes an adenine to guanine polymorphism in the putative branchpoint of BCR intron 13. CML patients who expressed both b2a2 and b3a2 transcripts had the allele, which was also associated with alternative transcription of the normal BCR allele. We conclude that the BCR intronic polymorphism is associated with activation of a cryptic branchpoint resulting in reduced efficiency of RNA splicing and exon 14 (b3) skipping in BCR and BCR–ABL.