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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 [[SNAI2|Slug]], [[SOX9|Sox9]], [[SOX10|Sox10]] and [[B3GAT1|HNK-1]].<ref name="pmid16688176">{{cite journal | vauthors = Basch ML, Bronner-Fraser M, García-Castro MI | title = Specification of the neural crest occurs during gastrulation and requires Pax7 | journal = Nature | volume = 441 | issue = 7090 | pages = 218–22 | date = May 2006 | pmid = 16688176 | doi = 10.1038/nature04684 }}</ref> PAX7 is expressed in the [[Secondary palate development#Palatal shelf elevation|palatal shelf]] of the [[maxilla]], [[Meckel's cartilage]], [[midbrain|mesencephalon]], nasal cavity, nasal epithelium, nasal capsule and [[pons]]. | 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 [[SNAI2|Slug]], [[SOX9|Sox9]], [[SOX10|Sox10]] and [[B3GAT1|HNK-1]].<ref name="pmid16688176">{{cite journal | vauthors = Basch ML, Bronner-Fraser M, García-Castro MI | title = Specification of the neural crest occurs during gastrulation and requires Pax7 | journal = Nature | volume = 441 | issue = 7090 | pages = 218–22 | date = May 2006 | pmid = 16688176 | doi = 10.1038/nature04684 }}</ref> PAX7 is expressed in the [[Secondary palate development#Palatal shelf elevation|palatal shelf]] of the [[maxilla]], [[Meckel's cartilage]], [[midbrain|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.<ref> | 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.<ref>https://www.uniprot.org/uniprot/P23759</ref> | ||
PAX7 functions as a marker for a rare subset of [[spermatogonial stem cells]], specifically a sub set of A<sub>single</sub> spermatogonia.<ref name=":0">{{Cite journal|last=Aloisio|first=Gina M.|last2=Nakada|first2=Yuji|last3=Saatcioglu|first3=Hatice D.|last4=Peña|first4=Christopher G.|last5=Baker|first5=Michael D.|last6=Tarnawa|first6=Edward D.|last7=Mukherjee|first7=Jishnu|last8=Manjunath|first8=Hema|last9=Bugde|first9=Abhijit|date=2014-09-02|title=PAX7 expression defines germline stem cells in the adult testis|journal=The Journal of Clinical Investigation|volume=124|issue=9|pages=3929–3944|doi=10.1172/JCI75943|issn=0021-9738|pmc=4153705|pmid=25133429}}</ref> These PAX7<sup>+</sup> spermatogonia are rare in adult [[Testicle|testis]] but are much more prevalent in newborns, making up 28% of [[germ cell]]s in neonate testis.<ref name=":0" /> Unlike PAX7<sup>+</sup> [[Myosatellite cell|muscle satellite cells]], PAX7<sup>+</sup> spermatogonia rapidly proliferate and are not quiescent.<ref name=":0" /><ref>{{Cite journal|last=Kumar|first=T. Rajendra|date=2014-10-01|title=The quest for male germline stem cell markers: PAX7 gets ID’d|journal=The Journal of Clinical Investigation|volume=124|issue=10|pages=4219–4222|doi=10.1172/JCI77926|issn=0021-9738|pmc=4191048|pmid=25157826}}</ref> PAX7<sup>+</sup> spermatogonia are able to give rise to all stages of [[spermatogenesis]] and produce motile [[sperm]].<ref name=":0" /> However, PAX7 is not required for spermatogenesis, as mice without PAX7<sup>+</sup> spermatogonia show no deficits in fertility.<ref name=":0" /> | PAX7 functions as a marker for a rare subset of [[spermatogonial stem cells]], specifically a sub set of A<sub>single</sub> spermatogonia.<ref name=":0">{{Cite journal|last=Aloisio|first=Gina M.|last2=Nakada|first2=Yuji|last3=Saatcioglu|first3=Hatice D.|last4=Peña|first4=Christopher G.|last5=Baker|first5=Michael D.|last6=Tarnawa|first6=Edward D.|last7=Mukherjee|first7=Jishnu|last8=Manjunath|first8=Hema|last9=Bugde|first9=Abhijit|date=2014-09-02|title=PAX7 expression defines germline stem cells in the adult testis|journal=The Journal of Clinical Investigation|volume=124|issue=9|pages=3929–3944|doi=10.1172/JCI75943|issn=0021-9738|pmc=4153705|pmid=25133429}}</ref> These PAX7<sup>+</sup> spermatogonia are rare in adult [[Testicle|testis]] but are much more prevalent in newborns, making up 28% of [[germ cell]]s in neonate testis.<ref name=":0" /> Unlike PAX7<sup>+</sup> [[Myosatellite cell|muscle satellite cells]], PAX7<sup>+</sup> spermatogonia rapidly proliferate and are not quiescent.<ref name=":0" /><ref>{{Cite journal|last=Kumar|first=T. Rajendra|date=2014-10-01|title=The quest for male germline stem cell markers: PAX7 gets ID’d|journal=The Journal of Clinical Investigation|volume=124|issue=10|pages=4219–4222|doi=10.1172/JCI77926|issn=0021-9738|pmc=4191048|pmid=25157826}}</ref> PAX7<sup>+</sup> spermatogonia are able to give rise to all stages of [[spermatogenesis]] and produce motile [[sperm]].<ref name=":0" /> However, PAX7 is not required for spermatogenesis, as mice without PAX7<sup>+</sup> spermatogonia show no deficits in fertility.<ref name=":0" /> | ||
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Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[1][2][3]
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.[4] 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.[5]
PAX7 functions as a marker for a rare subset of spermatogonial stem cells, specifically a sub set of Asingle spermatogonia.[6] These PAX7+ spermatogonia are rare in adult testis but are much more prevalent in newborns, making up 28% of germ cells in neonate testis.[6] Unlike PAX7+ muscle satellite cells, PAX7+ spermatogonia rapidly proliferate and are not quiescent.[6][7] PAX7+ spermatogonia are able to give rise to all stages of spermatogenesis and produce motile sperm.[6] However, PAX7 is not required for spermatogenesis, as mice without PAX7+ spermatogonia show no deficits in fertility.[6]
PAX7 may also function in the recovery in spermatogenesis. Unlike other spermatogonia, PAX7+ spermatogonia are resistant to radiation and chemotherapy.[6] 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.[6] Additionally, mice lacking PAX7 had delayed recovery of spermatogenesis following exposure to busulfan when compared to control mice.[6]
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.[3] Animal studies show that mutant mice have malformation of maxilla and the nose.[8]
See also
References
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "Entrez Gene: PAX7 paired box gene 7".
- ↑ 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. doi:10.1038/nature04684. PMID 16688176.
- ↑ https://www.uniprot.org/uniprot/P23759
- ↑ 6.0 6.1 6.2 6.3 6.4 6.5 6.6 6.7 Aloisio, Gina M.; Nakada, Yuji; Saatcioglu, Hatice D.; Peña, Christopher G.; Baker, Michael D.; Tarnawa, Edward D.; Mukherjee, Jishnu; Manjunath, Hema; Bugde, Abhijit (2014-09-02). "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.
- ↑ Kumar, T. Rajendra (2014-10-01). "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.
- ↑ 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. 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.
- 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 (Jan 1996). "In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma". 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.
- 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.