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
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 139,737,062 bp[2] End 139,833,528 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • sequence-specific DNA binding • DNA binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0000983 RNA polymerase II general transcription initiation factor activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component • cell 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 from RNA polymerase II promoter • transcription from RNA polymerase II promoter • 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: 139.74 – 139.83 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. https://www.uniprot.org/uniprot/P23759
10. Aloisio, Gina M.; Nakada, Yuji; Saatcioglu, Hatice D.; Peña, Christopher G.; Baker, Michael D.; Tarnawa, Edward D.; Mukherjee, Jishnu; Manjunath, Hema; Bugde, Abhijit (2 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. ISSN 0021-9738. PMC 4153705. PMID 25133429.
11. Kumar, T. Rajendra (1 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. ISSN 0021-9738. 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. 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.
• 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, 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. PMID 12039929.
• 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. 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, 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. 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 US 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.