PAX7

PAX7
Identifiers
Aliases	PAX7,HUP1, PAX7B, RMS2, Pax7, paired box 7, MYOSCO
External IDs	OMIM:167410;MGI:97491;HomoloGene:55665;GeneCards:PAX7;OMA:PAX7 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p36.13 Start 18,630,846bp End 18,748,866bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 D3|4 70.83 cM Start 139,464,373bp End 139,560,839bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in olfactory zone of nasal mucosa nasal epithelium muscle of thigh testicle gastrocnemius muscle prefrontal cortex skeletal muscle tissue Brodmann area 9 right frontal lobe cingulate gyrus Top expressed in superior colliculus somite dorsal tegmental nucleus urethra pretectal area main bronchus pituitary gland hair Nasal placode lateral nasal prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity RNA polymerase II general transcription initiation factor activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process positive regulation of myoblast proliferation regulation of cell fate commitment chromatin remodeling regulation of transcription, DNA-templated spinal cord association neuron differentiation positive regulation of histone methylation anatomical structure morphogenesis muscle organ development negative regulation of apoptotic process transcription, DNA-templated embryonic skeletal system development multicellular organism development cartilage development skeletal muscle tissue regeneration muscle tissue morphogenesis regulation of gene expression neuron fate commitment skeletal muscle satellite cell commitment dorsal/ventral neural tube patterning regulation of protein binding skeletal muscle tissue development positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II regulation of DNA binding Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 5081 18509 Ensembl ENSG00000009709 ENSMUSG00000028736 UniProt P23759 P47239 RefSeq (mRNA) NM_013945 NM_001135254 NM_002584 NM_011039 RefSeq (protein) NP_001128726 NP_002575 NP_039236 NP_035169 Location (UCSC) Chr 1: 18.63 – 18.75 Mb Chr 4: 139.46 – 139.56 Mb PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

Paired box protein Pax-7is aproteinthat in humans is encoded by thePAX7gene.

Function

Pax-7 plays a role inneural crestdevelopment andgastrulation,and it is an important factor in the expression of neural crest markers such asSlug,Sox9,Sox10andHNK-1.PAX7 is expressed in thepalatal shelfof themaxilla,Meckel's cartilage,mesencephalon,nasal cavity, nasal epithelium, nasal capsule andpons.

Pax7 is a transcription factor that plays a role inmyogenesisthrough 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.

PAX7 functions as a marker for a rare subset ofspermatogonial stem cells,specifically a sub set of A_singlespermatogonia.These PAX7⁺spermatogonia are rare in adulttestisbut are much more prevalent in newborns, making up 28% ofgerm cellsin neonate testis.Unlike PAX7⁺muscle satellite cells,PAX7⁺spermatogonia rapidly proliferate and are not quiescent.PAX7⁺spermatogonia are able to give rise to all stages ofspermatogenesisand produce motilesperm.However, PAX7 is not required for spermatogenesis, as mice without PAX7⁺spermatogonia show no deficits in fertility.

PAX7 may also function in the recovery in spermatogenesis. Unlike other spermatogonia, PAX7⁺spermatogonia are resistant toradiationandchemotherapy.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.Additionally, mice lacking PAX7 had delayed recovery of spermatogenesis following exposure tobusulfanwhen compared to control mice.

Clinical significance

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 domainfamily 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.Animal studies show that mutant mice have malformation of maxilla and the nose.

See also

• Pax genes

Further reading

• 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.
• Burri M, Tromvoukis Y, Bopp D, Frigerio G, Noll M (April 1989)."Conservation of the paired domain in metazoans and its structure in three isolated human genes".The EMBO Journal.8(4): 1183–90.doi:10.1002/j.1460-2075.1989.tb03490.x.PMC400932.PMID2501086.
• Schäfer BW, Czerny T, Bernasconi M, Genini M, Busslinger M (November 1994)."Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes".Nucleic Acids Research.22(22): 4574–82.doi:10.1093/nar/22.22.4574.PMC308503.PMID7527137.
• 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.
• Barr FG, Nauta LE, Davis RJ, Schäfer BW, Nycum LM, Biegel JA (January 1996)."In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma"(PDF).Human Molecular Genetics.5(1): 15–21.doi:10.1093/hmg/5.1.15.PMID8789435.
• 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.
• Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ (September 1998)."HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3".Nature Genetics.20(1): 74–7.doi:10.1038/1739.PMID9731536.S2CID19736941.
• 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, Bridge JA, Crist WM, Triche TJ, Barr FG (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, Marx A, Meyer J, Lesch KP (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.
• Tiffin N, Williams RD, Shipley J, Pritchard-Jones K (July 2003)."PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells".British Journal of Cancer.89(2): 327–32.doi:10.1038/sj.bjc.6601040.PMC2394255.PMID12865925.
• Tomescu O, Xia SJ, Strezlecki D, Bennicelli JL, Ginsberg J, Pawel B, Barr FG (August 2004)."Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression".Laboratory Investigation.84(8): 1060–70.doi:10.1038/labinvest.3700125.PMID15184910.
• 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.

External links

• PAX7+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
• PAX7human gene location in theUCSC Genome Browser.
• PAX7human gene details in theUCSC Genome Browser.

This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.