PAX9
| Paired box gene 9 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | PAX9 ; | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 31360 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PAX9 207059 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Paired box gene 9, also known as PAX9, is a human gene[1] which is also found in mammals generally.[2]
This gene is a member of the paired box (PAX) family of transcription factors. PAX9 is responsible for tooth development[2] and may more generally involve development of stratified squamous epithelia as well as various organs and skeletal elements.[1] PAX9 plays a role in the absence of wisdom teeth in some human populations (possibly along with the less well studied AXIN2 and MSX1).[2]
References
- ↑ 1.0 1.1 "Entrez Gene: PAX9 paired box gene 9".
- ↑ 2.0 2.1 2.2 Tiago V. Pereira, Francisco M. Salzano, Adrianna Mostowska, Wieslaw H. Trzeciak, Andrés Ruiz-Linares, José A. B. Chies, Carmen Saavedra, Cleusa Nagamachi, Ana M. Hurtado, Kim Hill, Dinorah Castro-de-Guerra, Wilson A. Silva-Júnior,§and Maria-Cátira Bortolini (2006 April 11). "Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development". Proc Natl Acad Sci U S A. 103 (15): 5676–5681. doi:10.1073/pnas.0509562103. Check date values in:
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Further reading
- Kobielak A, Kobielak K, Wiśniewski AS; et al. (2001). "The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis". Folia Histochem. Cytobiol. 39 (2): 111–2. PMID 11374781.
- Bannykh SI, Emery SC, Gerber JK; et al. (2004). "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". Am. J. Med. Genet. A. 120 (2): 241–6. doi:10.1002/ajmg.a.20192. PMID 12833407.
- Stapleton P, Weith A, Urbánek P; et al. (1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat. Genet. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748.
- Peters H, Schuster G, Neubüser A; et al. (1997). "Isolation of the Pax9 cDNA from adult human esophagus". Mamm. Genome. 8 (1): 62–4. PMID 9021154.
- Stockton DW, Das P, Goldenberg M; et al. (2000). "Mutation of PAX9 is associated with oligodontia". Nat. Genet. 24 (1): 18–9. doi:10.1038/71634. PMID 10615120.
- Hetzer-Egger C, Schorpp M, Boehm T (2000). "Evolutionary conservation of gene structures of the Pax1/9 gene family". Biochim. Biophys. Acta. 1492 (2–3): 517–21. PMID 10899593.
- Nieminen P, Arte S, Tanner D; et al. (2002). "Identification of a nonsense mutation in the PAX9 gene in molar oligodontia". Eur. J. Hum. Genet. 9 (10): 743–6. doi:10.1038/sj.ejhg.5200715. PMID 11781684.
- Das P, Stockton DW, Bauer C; et al. (2002). "Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia". Hum. Genet. 110 (4): 371–6. doi:10.1007/s00439-002-0699-1. PMID 11941488.
- Ikegawa S, Mabuchi A, Ogawa M, Ikeda T (2002). "Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?". Hum. Genet. 110 (6): 606–8. doi:10.1007/s00439-002-0735-1. PMID 12107448.
- Gerber JK, Richter T, Kremmer E; et al. (2002). "Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus". J. Pathol. 197 (3): 293–7. doi:10.1002/path.1115. PMID 12115874.
- 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. doi:10.1073/pnas.242603899. PMID 12477932.
- Peck S, Peck L, Kataja M (2003). "Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields". American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics. 122 (6): 657–60. doi:10.1067/mod.2002.129915. PMID 12490878.
- Tan K, Shaw AL, Madsen B; et al. (2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.
- Mostowska A, Kobielak A, Biedziak B, Trzeciak WH (2003). "Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia". Eur. J. Oral Sci. 111 (3): 272–6. PMID 12786960.
- Lammi L, Halonen K, Pirinen S; et al. (2004). "A missense mutation in PAX9 in a family with distinct phenotype of oligodontia". Eur. J. Hum. Genet. 11 (11): 866–71. doi:10.1038/sj.ejhg.5201060. PMID 14571272.
- Mensah JK, Ogawa T, Kapadia H; et al. (2004). "Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans". J. Biol. Chem. 279 (7): 5924–33. doi:10.1074/jbc.M305648200. PMID 14607846.
- Jumlongras D, Lin JY, Chapra A; et al. (2004). "A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia". Hum. Genet. 114 (3): 242–9. doi:10.1007/s00439-003-1066-6. PMID 14689302.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
External links
- PAX9+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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