PAX7

Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.^[5][6][7]

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)[1] Band 1p36.13 Start 18,630,846 bp[1] End 18,748,866 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D3|4 70.83 cM Start 139,464,373 bp[2] End 139,560,839 bp[2]
RNA expression pattern 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 PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

Pax-7 plays a role in neural crest development and gastrulation, and it is an important factor in the expression of neural crest markers such as Slug, Sox9, Sox10 and HNK-1.^[8] PAX7 is expressed in the palatal shelf of the maxilla, Meckel's cartilage, mesencephalon, nasal cavity, nasal epithelium, nasal capsule and pons.

Pax7 is a transcription factor that plays a role in myogenesis 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 of spermatogonial stem cells, specifically a sub set of A_single spermatogonia.^[10] These PAX7⁺ spermatogonia are rare in adult testis but are much more prevalent in newborns, making up 28% of germ 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 of spermatogenesis and produce motile sperm.^[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 to radiation and chemotherapy.^[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 to busulfan when compared to control mice.^[10]

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 a forkhead domain family member has been associated with alveolar 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]

See also

• Pax genes

References

1. GRCh38: Ensembl release 89: ENSG00000009709 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028736 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. PMID 7981748. S2CID 21338655.
6. 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. PMID 8431641. S2CID 30845070.
7. "Entrez Gene: PAX7 paired box gene 7".
8. Basch ML, Bronner-Fraser M, García-Castro MI (May 2006). "Specification of the neural crest occurs during gastrulation and requires Pax7". Nature. 441 (7090): 218–22. Bibcode:2006Natur.441..218B. doi:10.1038/nature04684. PMID 16688176. S2CID 4418753.
9. "PAX7 - Paired box protein Pax-7 - Homo sapiens (Human) - PAX7 gene & protein".
10. Aloisio GM, Nakada Y, Saatcioglu HD, Peña CG, Baker MD, Tarnawa ED, et al. (September 2014). "PAX7 expression defines germline stem cells in the adult testis". The Journal of Clinical Investigation. 124 (9): 3929–3944. doi:10.1172/JCI75943. PMC 4153705. PMID 25133429.
11. Kumar TR (October 2014). "The quest for male germline stem cell markers: PAX7 gets ID'd". The Journal of Clinical Investigation. 124 (10): 4219–4222. doi:10.1172/JCI77926. PMC 4191048. PMID 25157826.
12. Mansouri A, Stoykova A, Torres M, Gruss P (March 1996). "Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice". Development. 122 (3): 831–8. doi:10.1242/dev.122.3.831. hdl:11858/00-001M-0000-0013-01BC-0. PMID 8631261.

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. PMID 12647804.
• 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. PMC 400932. PMID 2501086.
• 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. PMC 308503. PMID 7527137.
• 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. PMID 7902328.
• 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. PMID 8012384. S2CID 12847618.
• 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. PMID 8104868.
• 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. PMID 8789435.
• 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. PMID 9339373.
• 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. PMID 9731536. S2CID 19736941.
• 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. PMID 10871843. S2CID 23943294.
• Kondrashov AV, Pospelov VA (2002). "[In vitro modelling of the interactions between the promoter and enhancer complexes]". Tsitologiia. 43 (8): 764–71. PMID 11601392.
• 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. PMID 12039929.
• 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. PMID 12234688.
• 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. PMC 2394255. PMID 12865925.
• Tomescu O, Xia SJ, Strezlecki D, Bennicelli JL, Ginsberg J, Pawel B, et al. (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. PMID 15184910.
• 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. PMID 15527970.

External links

• PAX7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• PAX7 human gene location in the UCSC Genome Browser.
• PAX7 human gene details in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.