The Role of PAX5 in ALL

PAX5/ETV6 alters the gene expression profile of precursor B cells with opposite dominant effect on endogenous PAX5

“…The PAX5 gene encodes for a transcription factor essential for B-cell development, 1,2 which has been recently reported as frequent target of aberrancies, including mutations, deletions and translocations in B30% of pediatric patients with B-cell precursor acute lymphoblastic leukemia. 3,4 Among several translocations with different partner genes, the t(9;12) encoding for the PAX5/ETV6 fusion, is the most recurrent.…”

“…3,4 Among several translocations with different partner genes, the t(9;12) encoding for the PAX5/ETV6 fusion, is the most recurrent. 2 The role of PAX5/ETV6 in leukemogenesis is not fully understood, although preliminary evidences suggested that the protein may have a repressor function on transcription. 3,5,6 The PAX5/ETV6 protein retains the ability to interact with the PAX5-consensus sequence contained in the CD19 promoter, 6 and it is able to multimerize and bind the PAX5-consensus sequence with high affinity, determining a dominant negative activity on wt PAX5.…”

Three novel fusion transcripts of the paired box 5 gene in B-cell precursor acute lymphoblastic leukemia

“…3 Although recent studies have indicated a functional role of PAX5 chimeric proteins, 14,15 their exact role in leukemogenesis still has to be fully elucidated. Luciana Impera, 3 Marco Severgnini, 4 Ilaria Iacobucci, 5 Marta Galbiati, 1 Anna Leszl, 6 Ingrid Cifola, 4 Gianluca De Bellis, 4 Paola Bresciani, 7 Giovanni Martinelli, 5 Giuseppe Basso, 6 Andrea Biondi, 1 …”

Comparison of multiplex ligation-dependent probe amplifi cation and qPCR for screening PAX5 gene detection in acute lymphoblastic leukemia

“…In the last two decades, molecular methods have provided the physicians and researchers with a new vision towards the role of molecular factors in pathogenesis of diseases. Alternative expression leads to the abnormal proliferation and differentiation of lymphoid ancestors (Fazio, Biondi, & Cazzaniga, 2011;O'neil & Look, 2007Seiter et al, 2014.…”

“…Paired Box5 (PAX5) is an important transcription factor located on chromosome 9p13 and includes 10 exons. PAX5 is essential factor for the development of pro-B cell to mature B-cell (Fazio et al, 2011). Up to now, nine PAX transcription factors have been demonstrated, although, PAX5 is the only PAX protein which is expressed in the hematopoietic system (Busslinger, 2004;Cobaleda, Schebesta, Delogu, & Busslinger, 2007;Matthias & Rolink, 2005).…”