The PAX5 gene is a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding domain, known as the paired box. The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. The PAX5 gene encodes the B-cell lineage specific activator protein (BSAP) that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis, therefore, PAX5 gene product may not only play an important role in B-cell differentiation, but also in neural development and spermatogenesis.
The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene locus into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the pathogenesis of these lymphomas.
^Adams B, Dörfler P, Aguzzi A, Kozmik Z, Urbánek P, Maurer-Fogy I, Busslinger M (Sep 1992). "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis". Genes & Development. 6 (9): 1589–607. PMID1516825. doi:10.1101/gad.6.9.1589.
^Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mammalian Genome. 4 (2): 78–82. PMID8431641. doi:10.1007/BF00290430.
^Torlakovic E, Torlakovic G, Nguyen PL, Brunning RD, Delabie J (Oct 2002). "The value of anti-pax-5 immunostaining in routinely fixed and paraffin-embedded sections: a novel pan pre-B and B-cell marker". The American Journal of Surgical Pathology. 26 (10): 1343–50. PMID12360049. doi:10.1097/00000478-200210000-00011.
^Emelyanov AV, Kovac CR, Sepulveda MA, Birshtein BK (Mar 2002). "The interaction of Pax5 (BSAP) with Daxx can result in transcriptional activation in B cells". The Journal of Biological Chemistry. 277 (13): 11156–64. PMID11799127. doi:10.1074/jbc.M111763200.
Hagman J, Wheat W, Fitzsimmons D, Hodsdon W, Negri J, Dizon F (1999). "Pax-5/BSAP: regulator of specific gene expression and differentiation in B lymphocytes". Current Topics in Microbiology and Immunology. 245 (1): 169–94. PMID10533313.
Carotta S, Holmes ML, Pridans C, Nutt SL (Nov 2006). "Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation". Cell Cycle. 5 (21): 2452–6. PMID17102626. doi:10.4161/cc.5.21.3396.
Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics. 3 (4): 292–8. PMID7981748. doi:10.1038/ng0493-292.
Eberhard D, Busslinger M (Apr 1999). "The partial homeodomain of the transcription factor Pax-5 (BSAP) is an interaction motif for the retinoblastoma and TATA-binding proteins". Cancer Research. 59 (7 Suppl): 1716s–1724s; discussion 1724s–1725s. PMID10197586.
Libermann TA, Pan Z, Akbarali Y, Hetherington CJ, Boltax J, Yergeau DA, Zhang DE (Aug 1999). "AML1 (CBFalpha2) cooperates with B cell-specific activating protein (BSAP/PAX5) in activation of the B cell-specific BLK gene promoter". The Journal of Biological Chemistry. 274 (35): 24671–6. PMID10455134. doi:10.1074/jbc.274.35.24671.
Nutt SL, Heavey B, Rolink AG, Busslinger M (Oct 1999). "Commitment to the B-lymphoid lineage depends on the transcription factor Pax5". Nature. 401 (6753): 556–62. PMID10524622. doi:10.1038/44076.
Rolink AG, Nutt SL, Melchers F, Busslinger M (Oct 1999). "Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors". Nature. 401 (6753): 603–6. PMID10524629. doi:10.1038/44164.
Kovac CR, Emelyanov A, Singh M, Ashouian N, Birshtein BK (Jun 2000). "BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence". The Journal of Biological Chemistry. 275 (22): 16752–7. PMID10748034. doi:10.1074/jbc.M001551200.