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PAX9

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PAX9
Identifiers
AliasesPAX9, STHAG3, paired box 9
External IDsOMIM: 167416; MGI: 97493; HomoloGene: 31360; GeneCards: PAX9; OMA:PAX9 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006194
NM_001372076

NM_011041

RefSeq (protein)

NP_006185
NP_001359005

NP_035171

Location (UCSC)Chr 14: 36.66 – 36.68 MbChr 12: 56.74 – 56.76 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene.[5][6] It is also found in other mammals.[7]

Expression and function

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This gene is a member of the paired box (PAX) family of transcription factors. During mouse embryogenesis Pax9 expression starts from embryonic day 8.5 and becomes more evident by E9.5; at this stage its expression is restricted to the pharyngeal endoderm.[8][9] Later on, Pax9 is also expressed in the axial skeleton.[8] Pax9 is required for craniofacial, tooth and limb development,[7][8] and may more generally involve development of stratified squamous epithelia as well as various organs and skeletal elements.[5] PAX9 plays a role in the absence of wisdom teeth in some human populations (possibly along with the less well studied AXIN2 and MSX1).[7]

Clinical significance

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This gene was found amplified in lung cancer. The amplification covers three tissue developmental genes - TTF1, NKX2-8, and PAX9.[10] It appears that certain lung cancer cells select for DNA copy number amplification and increased RNA/protein expression of these three coamplified genes for functional advantages.

Oligodontia

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Oligodontia is a genetic disorder caused by the mutation of the PAX9 gene. This disorder results in the congenital absence of 6 or more permanent teeth, with the exception of the third molar.[11] Also known as selective tooth agenesis (STHAG), it is the most common disorder in regard to human dentition, affecting a little less than one fourth of the population.[11] The gene PAX9 which can be found on chromosome 14 encodes a group of transcription factors that play an important role in early tooth development.[12] In humans, a frameshift mutation in the paired domain of PAX9 was discovered in those affected with oligodontia.[13] Multiple mechanisms are possible by which the mutation may arise. Recently, a study involving the missense mutation of a PAX9 gene suggests that the loss of function due to the absence DNA binding domain is a mechanism that causes oligodontia.[14] Those who express the PAX9 mutation and develop the disorder continue to have a normal life expectancy. Along with the mutation of the PAX9 gene, MSX1 gene mutations have also shown to affect dental development in fetuses.[14]

Interactions

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PAX9 has been shown to interact with JARID1B.[15]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198807Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001497Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: PAX9 paired box gene 9".
  6. ^ Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (April 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748. S2CID 21338655.
  7. ^ a b c Pereira TV, Salzano FM, Mostowska A, Trzeciak WH, Ruiz-Linares A, Chies JA, Saavedra C, Nagamachi C, Hurtado AM, Hill K, Castro-de-Guerra D, Silva-Júnior WA, Bortolini MC (April 2006). "Natural selection and molecular evolution in primate PAX9 gene, a major determinant of tooth development". Proceedings of the National Academy of Sciences of the United States of America. 103 (15): 5676–81. Bibcode:2006PNAS..103.5676P. doi:10.1073/pnas.0509562103. PMC 1458632. PMID 16585527.
  8. ^ a b c Peters H, Neubüser A, Kratochwil K, Balling R (September 1998). "Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities". Genes & Development. 12 (17): 2735–47. doi:10.1101/gad.12.17.2735. PMC 317134. PMID 9732271.
  9. ^ Neubüser A, Koseki H, Balling R (August 1995). "Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1". Developmental Biology. 170 (2): 701–16. doi:10.1006/dbio.1995.1248. PMID 7649395.
  10. ^ Kendall J, Liu Q, Bakleh A, Krasnitz A, Nguyen KC, Lakshmi B, Gerald WL, Powers S, Mu D (October 2007). "Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer" (PDF). Proceedings of the National Academy of Sciences of the United States of America. 104 (42): 16663–8. Bibcode:2007PNAS..10416663K. doi:10.1073/pnas.0708286104. PMC 2034240. PMID 17925434.
  11. ^ a b Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (January 2000). "Mutation of PAX9 is associated with oligodontia". Nature Genetics. 24 (1): 18–9. doi:10.1038/71634. PMID 10615120. S2CID 27526349.
  12. ^ Chi N, Epstein JA (January 2002). "Getting your Pax straight: Pax proteins in development and disease". Trends in Genetics. 18 (1): 41–7. doi:10.1016/s0168-9525(01)02594-x. PMID 11750700.
  13. ^ Klein ML, Nieminen P, Lammi L, Niebuhr E, Kreiborg S (January 2005). "Novel mutation of the initiation codon of PAX9 causes oligodontia". Journal of Dental Research. 84 (1): 43–7. doi:10.1177/154405910508400107. PMID 15615874. S2CID 31928079.
  14. ^ a b Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JG, Maas RL, Olsen BR (February 2004). "A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia". Human Genetics. 114 (3): 242–9. doi:10.1007/s00439-003-1066-6. PMID 14689302. S2CID 12537564.
  15. ^ Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (June 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". The Journal of Biological Chemistry. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635.

Further reading

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