PAX7
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Location (UCSC) | Chr 1: 18.63 – 18.75 Mb | Chr 4: 139.46 – 139.56 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[5][6][7]
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
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
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000009709 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028736 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 21338655.
- S2CID 30845070.
- ^ a b "Entrez Gene: PAX7 paired box gene 7".
- S2CID 4418753.
- ^ "PAX7 - Paired box protein Pax-7 - Homo sapiens (Human) - PAX7 gene & protein".
- ^ PMID 25133429.
- PMID 25157826.
- 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. 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. 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. 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. 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. 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. 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. 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. 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. 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, 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. 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. 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. 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. 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. 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.