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Pax7

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Title: Pax7  
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Pax7

Paired box 7
Identifiers
Symbols  ; HUP1; PAX7B; RMS2
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[1][2][3]

Contents

  • Function 1
  • Clinical significance 2
  • See also 3
  • References 4
  • Further reading 5
  • External links 6

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]

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.[6]

See also

References

  1. ^ Stapleton P, Weith A, Urbanek P, Kozmik Z, Busslinger M (Jan 1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat Genet 3 (4): 292–8.  
  2. ^ Pilz AJ, Povey S, Gruss P, Abbott CM (Mar 1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mamm Genome 4 (2): 78–82.  
  3. ^ a b "Entrez Gene: PAX7 paired box gene 7". 
  4. ^ 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.  
  5. ^ http://www.uniprot.org/uniprot/P23759
  6. ^ 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.  

Further reading

  • Blake J, Ziman MR (2003). "Aberrant PAX3 and PAX7 expression. A link to the metastatic potential of embryonal rhabdomyosarcoma and cutaneous malignant melanoma?". Histol. Histopathol. 18 (2): 529–39.  
  • Burri M, Tromvoukis Y, Bopp D, et al. (1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes.". EMBO J. 8 (4): 1183–90.  
  • Schäfer BW, Czerny T, Bernasconi M, et al. (1995). "Molecular cloning and characterization of a human PAX-7 cDNA expressed in normal and neoplastic myocytes.". Nucleic Acids Res. 22 (22): 4574–82.  
  • Shapiro DN, Sublett JE, Li B, et al. (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.  
  • Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column.". Nat. Genet. 6 (3): 236–44.  
  • Schäfer BW, Mattei MG (1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2.". Genomics 17 (1): 249–51.  
  • Barr FG, Nauta LE, Davis RJ, et al. (1996). "In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma.". Hum. Mol. Genet. 5 (1): 15–21.  
  • Vorobyov E, Mertsalov I, Dockhorn-Dworniczak B, et al. (1997). "The genomic organization and the full coding region of the human PAX7 gene.". Genomics 45 (1): 168–74.  
  • Magnaghi P, Roberts C, Lorain S, et al. (1998). "HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.". Nat. Genet. 20 (1): 74–7.  
  • Margue CM, Bernasconi M, Barr FG, Schäfer BW (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.  
  • Kondrashov AV, Pospelov VA (2002). "[In vitro modelling of the interactions between the promoter and enhancer complexes]". Tsitologiia 43 (8): 764–71.  
  • Sorensen PH, Lynch JC, Qualman SJ, et al. (2002). "PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.". J. Clin. Oncol. 20 (11): 2672–9.  
  • Syagailo YV, Okladnova O, Reimer E, et al. (2003). "Structural and functional characterization of the human PAX7 5'-flanking regulatory region.". Gene 294 (1–2): 259–68.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Tiffin N, Williams RD, Shipley J, Pritchard-Jones K (2003). "PAX7 expression in embryonal rhabdomyosarcoma suggests an origin in muscle satellite cells". Br. J. Cancer 89 (2): 327–32.  
  • Tomescu O, Xia SJ, Strezlecki D, et al. (2004). "Inducible short-term and stable long-term cell culture systems reveal that the PAX3-FKHR fusion oncoprotein regulates CXCR4, PAX3, and PAX7 expression". Lab. Invest. 84 (8): 1060–70.  
  • Vorobyov E, Horst J (2005). "Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing". Gene 342 (1): 107–12.  

External links

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



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