Pax7 is a transcription factor that plays a role inmyogenesis through regulation of muscle precursor cells proliferation. It can bind to DNA as an heterodimer with PAX3. Also interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex By similarity. Interacts with DAXX too.[9]
PAX7 functions as a marker for a rare subset ofspermatogonial stem cells, specifically a sub set of Asingle spermatogonia.[10] These PAX7+ spermatogonia are rare in adulttestis but are much more prevalent in newborns, making up 28% ofgerm cells in neonate testis.[10] Unlike PAX7+muscle satellite cells, PAX7+ spermatogonia rapidly proliferate and are not quiescent.[10][11] PAX7+ spermatogonia are able to give rise to all stages ofspermatogenesis and produce motilesperm.[10] However, PAX7 is not required for spermatogenesis, as mice without PAX7+ spermatogonia show no deficits in fertility.[10]
PAX7 may also function in the recovery in spermatogenesis. Unlike other spermatogonia, PAX7+ spermatogonia are resistant toradiation andchemotherapy.[10] The surviving PAX7+ spermatogonia are able to increase in number following these therapies and differentiate into the other forms of spermatogonia that did not survive.[10] Additionally, mice lacking PAX7 had delayed recovery of spermatogenesis following exposure tobusulfan when compared to control mice.[10]
Pax proteins play critical roles during fetal development and cancer growth. The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with aforkhead domain family member has been associated withalveolar rhabdomyosarcoma. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.[7] Animal studies show that mutant mice have malformation of maxilla and the nose.[12]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (April 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.
^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.
Blake J, Ziman MR (April 2003). "Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma?".Histology and Histopathology.18 (2):529–39.PMID12647804.
Shapiro DN, Sublett JE, Li B, Valentine MB, Morris SW, Noll M (September 1993). "The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36".Genomics.17 (3):767–9.doi:10.1006/geno.1993.1404.PMID7902328.
Cross SH, Charlton JA, Nan X, Bird AP (March 1994). "Purification of CpG islands using a methylated DNA binding column".Nature Genetics.6 (3):236–44.doi:10.1038/ng0394-236.PMID8012384.S2CID12847618.
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2".Genomics.17 (1):249–51.doi:10.1006/geno.1993.1315.PMID8104868.
Vorobyov E, Mertsalov I, Dockhorn-Dworniczak B, Dworniczak B, Horst J (October 1997). "The genomic organization and the full coding region of the human PAX7 gene".Genomics.45 (1):168–74.doi:10.1006/geno.1997.4915.PMID9339373.
Margue CM, Bernasconi M, Barr FG, Schäfer BW (June 2000). "Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR".Oncogene.19 (25):2921–9.doi:10.1038/sj.onc.1203607.PMID10871843.S2CID23943294.
Kondrashov AV, Pospelov VA (2002). "[In vitro modelling of the interactions between the promoter and enhancer complexes]".Tsitologiia.43 (8):764–71.PMID11601392.
Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, et al. (June 2002). "PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group".Journal of Clinical Oncology.20 (11):2672–9.doi:10.1200/JCO.2002.03.137.PMID12039929.
Syagailo YV, Okladnova O, Reimer E, Grässle M, Mössner R, Gattenlöhner S, et al. (July 2002). "Structural and functional characterization of the human PAX7 5'-flanking regulatory region".Gene.294 (1–2):259–68.doi:10.1016/S0378-1119(02)00798-9.PMID12234688.
Vorobyov E, Horst J (November 2004). "Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing".Gene.342 (1):107–12.doi:10.1016/j.gene.2004.07.030.PMID15527970.
