Biology:PAX7
 Generic protein structure example |
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
- ↑ "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics 3 (4): 292–8. April 1993. doi:10.1038/ng0493-292. PMID 7981748.
- ↑ "Mapping of the human homologs of the murine paired-box-containing genes". Mammalian Genome 4 (2): 78–82. March 1993. doi:10.1007/BF00290430. PMID 8431641.
- ↑ 3.0 3.1 "Entrez Gene: PAX7 paired box gene 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5081.
- ↑ "Specification of the neural crest occurs during gastrulation and requires Pax7". Nature 441 (7090): 218–22. May 2006. doi:10.1038/nature04684. PMID 16688176. Bibcode: 2006Natur.441..218B. https://authors.library.caltech.edu/56258/2/nature04684-s1.doc.
- ↑ "PAX7 - Paired box protein Pax-7 - Homo sapiens (Human) - PAX7 gene & protein". 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 et al. (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. 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. PMID 25157826.
- ↑ "Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice". Development 122 (3): 831–8. March 1996. doi:10.1242/dev.122.3.831. PMID 8631261.
Further reading
- "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. April 2003. PMID 12647804.
- "Conservation of the paired domain in metazoans and its structure in three isolated human genes". The EMBO Journal 8 (4): 1183–90. April 1989. doi:10.1002/j.1460-2075.1989.tb03490.x. PMID 2501086.
- "Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes". Nucleic Acids Research 22 (22): 4574–82. November 1994. doi:10.1093/nar/22.22.4574. PMID 7527137.
- "The gene for PAX7, a member of the paired-box-containing genes, is localized on human chromosome arm 1p36". Genomics 17 (3): 767–9. September 1993. doi:10.1006/geno.1993.1404. PMID 7902328.
- "Purification of CpG islands using a methylated DNA binding column". Nature Genetics 6 (3): 236–44. March 1994. doi:10.1038/ng0394-236. PMID 8012384.
- "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics 17 (1): 249–51. July 1993. doi:10.1006/geno.1993.1315. PMID 8104868.
- "In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma". Human Molecular Genetics 5 (1): 15–21. Jan 1996. doi:10.1093/hmg/5.1.15. PMID 8789435. http://doc.rero.ch/record/290938/files/5-1-15.pdf.
- "The genomic organization and the full coding region of the human PAX7 gene". Genomics 45 (1): 168–74. October 1997. doi:10.1006/geno.1997.4915. PMID 9339373.
- "HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3". Nature Genetics 20 (1): 74–7. September 1998. doi:10.1038/1739. PMID 9731536.
- "Transcriptional modulation of the anti-apoptotic protein BCL-XL by the paired box transcription factors PAX3 and PAX3/FKHR". Oncogene 19 (25): 2921–9. June 2000. doi:10.1038/sj.onc.1203607. PMID 10871843.
- "[In vitro modelling of the interactions between the promoter and enhancer complexes]". Tsitologiia 43 (8): 764–71. 2002. PMID 11601392.
- "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. June 2002. doi:10.1200/JCO.2002.03.137. PMID 12039929.
- "Structural and functional characterization of the human PAX7 5'-flanking regulatory region". Gene 294 (1–2): 259–68. July 2002. doi:10.1016/S0378-1119(02)00798-9. PMID 12234688.
- "PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells". British Journal of Cancer 89 (2): 327–32. July 2003. doi:10.1038/sj.bjc.6601040. PMID 12865925.
- "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. August 2004. doi:10.1038/labinvest.3700125. PMID 15184910.
- "Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing". Gene 342 (1): 107–12. November 2004. 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.
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