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PAX3: Wikis


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Paired box gene 3 (Waardenburg syndrome 1)
Symbols PAX3; CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; WS1
External IDs OMIM606597 MGI97487 HomoloGene22494 GeneCards: PAX3 Gene
RNA expression pattern
PBB GE PAX3 207680 x at tn.png
PBB GE PAX3 216059 at tn.png
More reference expression data
Species Human Mouse
Entrez 5077 18505
Ensembl ENSG00000135903 ENSMUSG00000004872
UniProt P23760 Q3UGH9
RefSeq (mRNA) NM_000438 XM_986648
RefSeq (protein) NP_000429 XP_991742
Location (UCSC) Chr 2:
222.77 - 222.87 Mb
Chr 1:
77.99 - 78.08 Mb
PubMed search [1] [2]

PAX3 is a gene that belongs to the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. It transcribes a 479 amino acid protein in humans.

PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome. It is expressed in early embryonic phases in dermatomyotome of paraxial mesoderm which it helps to demarcate. In that way PAX3 contributes to early striated muscle development since all myoblasts are derived from dermatomyotome of paraxial mesoderm.

Alternative splicing results in transcripts encoding isoforms with different C-termini.[1]


Role in rhabdomyosarcoma

A PAX3/FKHR fusion gene is often found in some forms of rhabdomyosarcoma,[2] a kind of cancer arisen from striated muscle cells.


PAX3 has been shown to interact with MEOX1,[3] MEOX2[3] and SOX10.[4][5]


  1. ^ "Entrez Gene: PAX3 paired box gene 3 (Waardenburg syndrome 1)".  
  2. ^ Begum S, Emami N, Emani N, et al. (March 2005). "Cell-type-specific regulation of distinct sets of gene targets by Pax3 and Pax3/FKHR". Oncogene 24 (11): 1860–72. doi:10.1038/sj.onc.1208315. PMID 15688035.  
  3. ^ a b Stamataki, D; Kastrinaki M, Mankoo B S, Pachnis V, Karagogeos D (Jun. 2001). "Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors". FEBS Lett. (Netherlands) 499 (3): 274–8. ISSN 0014-5793. PMID 11423130.  
  4. ^ Lang, Deborah; Epstein Jonathan A (Apr. 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. (England) 12 (8): 937–45. ISSN 0964-6906. PMID 12668617.  
  5. ^ Bondurand, N; Pingault V, Goerich D E, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (Aug. 2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. (ENGLAND) 9 (13): 1907–17. ISSN 0964-6906. PMID 10942418.  

Further reading

  • Moase CE, Trasler DG (1992). "Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.". J. Med. Genet. 29 (3): 145–51. doi:10.1136/jmg.29.3.145. PMID 1552554.  
  • Baldwin CT, Hoth CF, Macina RA, Milunsky A (1996). "Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.". Am. J. Med. Genet. 58 (2): 115–22. doi:10.1002/ajmg.1320580205. PMID 8533800.  
  • 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. PMID 12647804.  
  • Reddi KK (1976). "Human granulocyte ribonuclease.". Biochem. Biophys. Res. Commun. 68 (4): 1119–25. doi:10.1016/0006-291X(76)90312-0. PMID 5077.  
  • Morell R, Friedman TB, Moeljopawiro S, et al. (1993). "A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.". Hum. Mol. Genet. 1 (4): 243–7. doi:10.1093/hmg/1.4.243. PMID 1303193.  
  • Carezani-Gavin M, Clarren SK, Steege T (1993). "Waardenburg syndrome associated with meningomyelocele.". Am. J. Med. Genet. 42 (1): 135–6. doi:10.1002/ajmg.1320420127. PMID 1308353.  
  • Tassabehji M, Read AP, Newton VE, et al. (1992). "Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.". Nature 355 (6361): 635–6. doi:10.1038/355635a0. PMID 1347148.  
  • Baldwin CT, Hoth CF, Amos JA, et al. (1992). "An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.". Nature 355 (6361): 637–8. doi:10.1038/355637a0. PMID 1347149.  
  • Farrer LA, Grundfast KM, Amos J, et al. (1992). "Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.". Am. J. Hum. Genet. 50 (5): 902–13. PMID 1349198.  
  • Sheffer R, Zlotogora J (1992). "Autosomal dominant inheritance of Klein-Waardenburg syndrome.". Am. J. Med. Genet. 42 (3): 320–2. doi:10.1002/ajmg.1320420312. PMID 1536170.  
  • 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. PMID 2501086.  
  • Newton VE (1990). "Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi.". Scandinavian audiology 18 (4): 221–3. PMID 2609099.  
  • Newton CR, Graham A, Heptinstall LE, et al. (1989). "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS).". Nucleic Acids Res. 17 (7): 2503–16. doi:10.1093/nar/17.7.2503. PMID 2785681.  
  • Sommer A, Young-Wee T, Frye T (1983). "Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.". Am. J. Med. Genet. 15 (1): 71–7. doi:10.1002/ajmg.1320150109. PMID 6859126.  
  • Goodman RM, Lewithal I, Solomon A, Klein D (1982). "Upper limb involvement in the Klein-Waardenburg syndrome.". Am. J. Med. Genet. 11 (4): 425–33. doi:10.1002/ajmg.1320110407. PMID 7091186.  
  • Tsukamoto K, Nakamura Y, Niikawa N (1994). "Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues.". Hum. Genet. 93 (3): 270–4. doi:10.1007/BF00212021. PMID 7545913.  
  • Zlotogora J, Lerer I, Bar-David S, et al. (1995). "Homozygosity for Waardenburg syndrome.". Am. J. Hum. Genet. 56 (5): 1173–8. PMID 7726174.  
  • Macina RA, Barr FG, Galili N, Riethman HC (1995). "Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma.". Genomics 26 (1): 1–8. doi:10.1016/0888-7543(95)80076-X. PMID 7782066.  
  • Lalwani AK, Brister JR, Fex J, et al. (1995). "Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.". Am. J. Hum. Genet. 56 (1): 75–83. PMID 7825605.  

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