Pax5 isoform expression and mutation status in B-cell chronic lymphocytic leukemia (original) (raw)

Abstract

The transcription factor Pax5 possesses oncogenic properties and is often deregulated in many subsets of B-cell lymphomas and leukemias. Furthermore, the Pax5 transcript is known to be alternatively spliced, producing a wide variety of isoforms. It has been recently suggested that deregulation of Pax5 isoforms may lead to these B-cell malignancies. Since aberrant splicing is linked to human diseases, we hypothesized that the deregulation of Pax5 isoforms may result from a defective splicing mechanism caused by mutations in splice sites. Therefore, we have attempted to establish a link between the pattern of expressed Pax5 isoforms in B-cell chronic lymphocytic leukemia (B-CLL) patients and mutations in splice sites. These experiments were performed using PCR amplification of Pax5 in B-CLL patients in conjunction with immunodetection of the protein isoforms by Western blot. Sequencing of PCR products is then used to identify mutations. Our results indicate that full length Pax5 is pr...

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