Biology:PAX9

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Short description: Protein-coding gene in humans


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene.[1][2] It is also found in other mammals.[3]

Expression and function

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.[4][5] Later on, Pax9 is also expressed in the axial skeleton.[4] Pax9 is required for craniofacial, tooth and limb development,[3][4] 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).[3]

Clinical significance

This gene was found amplified in lung cancer. The amplification covers three tissue developmental genes - TTF1, NKX2-8, and PAX9.[6] 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

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.[7] 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.[7] 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.[8] In humans, a frameshift mutation in the paired domain of PAX9 was discovered in those affected with oligodontia.[9] 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.[10] 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.[10]

Interactions

PAX9 has been shown to interact with JARID1B.[11]

References

  1. ↑ 1.0 1.1 "Entrez Gene: PAX9 paired box gene 9". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5083. 
  2. ↑ "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics 3 (4): 292–8. April 1993. doi:10.1038/ng0493-292. PMID 7981748. 
  3. ↑ 3.0 3.1 3.2 "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. April 2006. doi:10.1073/pnas.0509562103. PMID 16585527. Bibcode: 2006PNAS..103.5676P. 
  4. ↑ 4.0 4.1 4.2 "Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities". Genes & Development 12 (17): 2735–47. September 1998. doi:10.1101/gad.12.17.2735. PMID 9732271. 
  5. ↑ "Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1". Developmental Biology 170 (2): 701–16. August 1995. doi:10.1006/dbio.1995.1248. PMID 7649395. 
  6. ↑ "Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer". Proceedings of the National Academy of Sciences of the United States of America 104 (42): 16663–8. October 2007. doi:10.1073/pnas.0708286104. PMID 17925434. PMC 2034240. Bibcode: 2007PNAS..10416663K. http://repository.cshl.edu/23060/1/Oncogenic%20cooperation.pdf. 
  7. ↑ 7.0 7.1 "Mutation of PAX9 is associated with oligodontia". Nature Genetics 24 (1): 18–9. January 2000. doi:10.1038/71634. PMID 10615120. 
  8. ↑ "Getting your Pax straight: Pax proteins in development and disease". Trends in Genetics 18 (1): 41–7. January 2002. doi:10.1016/s0168-9525(01)02594-x. PMID 11750700. 
  9. ↑ "Novel mutation of the initiation codon of PAX9 causes oligodontia". Journal of Dental Research 84 (1): 43–7. January 2005. doi:10.1177/154405910508400107. PMID 15615874. 
  10. ↑ 10.0 10.1 "A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia". Human Genetics 114 (3): 242–9. February 2004. doi:10.1007/s00439-003-1066-6. PMID 14689302. 
  11. ↑ "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. June 2003. doi:10.1074/jbc.M301994200. PMID 12657635. 

Further reading

  • "The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis". Folia Histochemica et Cytobiologica 39 (2): 111–2. 2001. PMID 11374781. 
  • "Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review". American Journal of Medical Genetics. Part A 120A (2): 241–6. July 2003. doi:10.1002/ajmg.a.20192. PMID 12833407. 
  • "Isolation of the Pax9 cDNA from adult human esophagus". Mammalian Genome 8 (1): 62–4. January 1997. doi:10.1007/s003359900351. PMID 9021154. 
  • "Mutation of PAX9 is associated with oligodontia". Nature Genetics 24 (1): 18–9. January 2000. doi:10.1038/71634. PMID 10615120. 
  • "Evolutionary conservation of gene structures of the Pax1/9 gene family". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression 1492 (2–3): 517–21. July 2000. doi:10.1016/s0167-4781(00)00130-5. PMID 10899593. 
  • "Identification of a nonsense mutation in the PAX9 gene in molar oligodontia". European Journal of Human Genetics 9 (10): 743–6. October 2001. doi:10.1038/sj.ejhg.5200715. PMID 11781684. 
  • "Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia". Human Genetics 110 (4): 371–6. April 2002. doi:10.1007/s00439-002-0699-1. PMID 11941488. 
  • "Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?". Human Genetics 110 (6): 606–8. June 2002. doi:10.1007/s00439-002-0735-1. PMID 12107448. 
  • "Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus". The Journal of Pathology 197 (3): 293–7. July 2002. doi:10.1002/path.1115. PMID 12115874. 
  • "Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields". American Journal of Orthodontics and Dentofacial Orthopedics 122 (6): 657–60. December 2002. doi:10.1067/mod.2002.129915. PMID 12490878. 
  • "Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia". European Journal of Oral Sciences 111 (3): 272–6. June 2003. doi:10.1034/j.1600-0722.2003.00036.x. PMID 12786960. 
  • "A missense mutation in PAX9 in a family with distinct phenotype of oligodontia". European Journal of Human Genetics 11 (11): 866–71. November 2003. doi:10.1038/sj.ejhg.5201060. PMID 14571272. 
  • "Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans". The Journal of Biological Chemistry 279 (7): 5924–33. February 2004. doi:10.1074/jbc.M305648200. PMID 14607846. 

External links

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




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