PAX9

From Wikipedia, the free encyclopedia

Paired box gene 9

Identifiers

External IDs

OMIM: 167416 MGI: 97493 HomoloGene: 31360

Gene ontology
Molecular Function:	• DNA binding
Cellular Component:	• nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent • multicellular organismal development • endoderm development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_006194 (mRNA)
NP_006185 (protein)

NM_011041 (mRNA)
NP_035171 (protein)

Location

Chr 14: 36.2 - 36.22 Mb

Chr 12: 57.61 - 57.63 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: PAX9 paired box gene 9.
^ ^a ^b ^c 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.

[edit] 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.

[edit] External links

MeSH PAX9+protein,+human

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

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v • d • e

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1

(1.3) bHLH-ZIP	MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)

(1.6) Basic helix-span-helix (bHSH)	AP-2

(2) Zinc finger
DNA-binding domains

(2.1) Nuclear receptor (Cys₄)	subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)

(2.2) Other Cys₄	GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)

(2.3) Cys₂His₂	ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)

(2.4) Cys₆	HIVEP1

(2.5) Alternating composition	AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B

(3) Helix-turn-helix
domains

(3.1) Homeo domain	ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1

(3.2) Paired box	PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix	E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)

(3.4) Heat Shock Factors	HSF (1, 2, 4)

(3.5) Tryptophan clusters	ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2

(3.6) TEA domain	transcriptional enhancer factor 1, 2

(4) β-Scaffold factors with
minor groove contacts

(4.1) Rel homology region	NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)

(4.2) STAT	STAT (1, 2, 3, 4, 5, 6)

(4.3) p53	p53

(4.4) MADS box	Mef2 (A, B, C, D) • SRF

(4.7) High mobility group	HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1

(4.10) Cold-shock domain	CSDA, YBX1

(4.11) Runt	CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)

(0) Other
transcription factors

(0.2) HMGI(Y)	HMGA (1, 2) • HBP1

(0.3) Pocket domain	Rb • RBL1 • RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 • EREBP • B3

(0.6) Miscellaneous	ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD