The PAX5 gene is a member of thepaired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conservedDNA-binding domain, known as thepaired box. The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute toneoplastic transformation. The PAX5 gene encodes theB-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 andspermatogenesis.[7]
The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in smalllymphocytic lymphomas of theplasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of theIgH gene locus into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to thepathogenesis of these lymphomas.[7]
^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.doi:10.1007/BF00290430.PMID8431641.S2CID30845070.
^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.doi:10.1097/00000478-200210000-00011.PMID12360049.S2CID7703197.
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".Signal Transduction and the Coordination of B Lymphocyte Development and Function I. Current Topics in Microbiology and Immunology. Vol. 245. pp. 169–94.doi:10.1007/978-3-642-57066-7_5.ISBN978-3-642-63017-0.PMID10533313.
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.doi:10.1038/ng0493-292.PMID7981748.S2CID21338655.
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.
