Developmental Signals - Pax

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Introduction

Phylogenetic tree of Pax genes[1]

The name derived from Drosophila gene "paired" (prd) with a box (homeodomain) domain. A transcription factor of the helix-turn-helix structural family, DNA binding, and activating gene expression. In human, there are nine member proteins from Pax1 to Pax9.


Pax6 has been identified as regulating development of the central nervous system, eyes, nose, pancreas and pituitary gland.


Factor Links: BMP | Sonic hedgehog | Homeobox | FGF | Nanog | Notch | Pax | Retinoic acid | Sox | Tbx | TGF-beta | VEGF | Wnt | hCG

Some Recent Findings

  • Review - Pax genes: regulators of lineage specification and progenitor cell maintenance[2] "Pax genes encode a family of transcription factors that orchestrate complex processes of lineage determination in the developing embryo. Their key role is to specify and maintain progenitor cells through use of complex molecular mechanisms such as alternate RNA splice forms and gene activation or inhibition in conjunction with protein co-factors. The significance of Pax genes in development is highlighted by abnormalities that arise from the expression of mutant Pax genes. Here, we review the molecular functions of Pax genes during development and detail the regulatory mechanisms by which they specify and maintain progenitor cells across various tissue lineages."
  • Downstream genes of Pax6 in the developing rat hindbrain [3] "These results indicate that Unc5h1 and Cyp26b1 are novel candidates for target genes transactivated by Pax6. Furthermore, our results suggest the interesting possibility that Pax6 regulates anterior-posterior patterning of the hindbrain via activation of Cyp26b1, an enzyme that metabolizes retinoic acid."
More recent papers
Mark Hill.jpg
This table shows an automated computer PubMed search using the listed sub-heading term.
  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
  • References appear in this list based upon the date of the actual page viewing.

References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

Links: References | Discussion Page | Pubmed Most Recent


Search term: Development Pax

Rital B Bhavsar, Panagiotis A Tsonis Exogenous Oct-4 Inhibits Lens Transdifferentiation in the Newt Notophthalmus viridescens. PLoS ONE: 2014, 9(7);e102510 PMID:25019378 Sofia Av Fortunato, Sven Leininger, Maja Adamska Evolution of the Pax-Six-Eya-Dach network: the calcisponge case study. Evodevo: 2014, 5;23 PMID:25002963 Nneka N Ibekwe, John B Nvau, Peters O Oladosu, Auwal M Usman, Kolo Ibrahim, Helena I Boshoff, Cynthia S Dowd, Abayomi T Orisadipe, Olapeju Aiyelaagbe, Akinbo A Adesomoju, Clifton E Barry, Joseph I Okogun, in collaboration with 73 Visited Herbalists Some Nigerian anti-ome ethnomedIcines: a Preliminary Efficacy Assessment. J Ethnopharmacol: 2014; PMID:24911338 Jinhua Tang, Yanli Yan, Ting C Zhao, Rujun Gong, George Bayliss, Haidong Yan, Shougang Zhuang Class I HDAC activity is required for renal protection and regeneration after acute kidney injury. Am. J. Physiol. Renal Physiol.: 2014; PMID:24808536 Sandra Bandín, Ruth Morona, Jesús M López, Nerea Moreno, Agustín González Immunohistochemical analysis of Pax6 and Pax7 expression in the CNS of adult Xenopus laevis. J. Chem. Neuroanat.: 2014; PMID:24717807

Transcription Factor

Pax and DNA interaction cartoon

Pax and DNA molecular interaction[2]

Functions

Mesoderm

Mesoderm Development and Pax cartoon

Mesoderm Development and Pax[2]

Neural

Mouse- early Pax8 and Pax2 expression[4]
  • Hoxd4 gene a direct target of Pax6[5]
    • mouse embryo - Hoxd4 expression in rhombomere 7 and the spinal cord is reduced to some extent in the Pax6 mutant
    • zebrafish embryo - double knockdown of pax6a and pax6b with MOs resulted in malformed rhombomere boundaries and an anteriorized hoxd4a expression border
  • Pax3 is expressed in the somite, neural tube, and neural crest.
  • Pax3 is required for enteric ganglia formation.[6]
  • Pax2 and Pax5 in midbrain and cerebellum development.[7]

Vision

Pax6 eye phenotypes.jpg

Pax6 mutation eye phenotypes[8]

Pancreas

  • Pax6 acts in endocrine development in the pancreas as a glucagon gene transactivator role in alpha (α) cell development.
  • Pax2 is also expressed in the pancreas.
  • Pax4 is a regulator of pancreatic beta cell development.[9]

Thymus

Pax1 mouse KO thymus size reduction and impaired thymocyte maturation.

Structure

  • tissue-specific transcriptional regulators
  • contain a highly conserved DNA-binding domain with six alpha-helices (paired domain)
  • a complete or residual homeodomain.
  • 4 Groups: group I (Pax-1, 9), II (Pax-2, 5, 8), III (Pax-3, 7), and IV (Pax-4, 6)[10]

Mouse Expression

The following gallery is from a recent paper using a Pax7-cre/reporter mouse.[11]

Mouse palate gene expression 01.jpg

Mouse Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.[12]


Links: Mouse Development | Neural Crest Development

Abnormalities

Associated with defects in each Pax protein or their signaling pathway.

PAX2

  • renal-coloboma syndrome (RCS)

Pax3

  • Waardenburg syndrome type 1 (WS1)
  • Waardenburg syndrome type 3 (WS3)
  • craniofacial-deafness-hand syndrome (CDHS)
  • rhabdomyosarcoma type 2 (RMS2)

Pax5

  • acute lymphoblastic leukemia

PAX6

A series of vision associated defects.

  • aniridia (AN)
  • Peters anomaly
  • ectopia pupillae
  • foveal hypoplasia
  • autosomal dominant keratitis
  • ocular coloboma
  • coloboma of optic nerve
  • bilateral optic nerve hypoplasia
  • aniridia cerebellar ataxia and mental deficiency (ACAMD)

Pax7

  • rhabdomyosarcoma type 2 (RMS2)

PAX8

  • congenital hypothyroidism non-goitrous type 2 (CHNG2)

References

  1. H Sun, A Rodin, Y Zhou, D P Dickinson, D E Harper, D Hewett-Emmett, W H Li Evolution of paired domains: isolation and sequencing of jellyfish and hydra Pax genes related to Pax-5 and Pax-6. Proc. Natl. Acad. Sci. U.S.A.: 1997, 94(10);5156-61 PMID:9144207
  2. 2.0 2.1 2.2 Judith A Blake, Melanie R Ziman Pax genes: regulators of lineage specification and progenitor cell maintenance. Development: 2014, 141(4);737-51 PMID:24496612 | Development
  3. Keiko Numayama-Tsuruta, Yoko Arai, Masanori Takahashi, Makiko Sasaki-Hoshino, Nobuo Funatsu, Shun Nakamura, Noriko Osumi Downstream genes of Pax6 revealed by comprehensive transcriptome profiling in the developing rat hindbrain. BMC Dev. Biol.: 2010, 10;6 PMID:20082710 | BMC Dev. Biol.
  4. Maxime Bouchard, Dominique de Caprona, Meinrad Busslinger, Pinxian Xu, Bernd Fritzsch Pax2 and Pax8 cooperate in mouse inner ear morphogenesis and innervation. BMC Dev. Biol.: 2010, 10;89 PMID:20727173 | PMC2939565 | BMC Dev Biol.
  5. Christof Nolte, Mojgan Rastegar, Angel Amores, Maxime Bouchard, David Grote, Richard Maas, Erzsebet Nagy Kovacs, John Postlethwait, Isabel Rambaldi, Sheldon Rowan, Yi-Lin Yan, Feng Zhang, Mark Featherstone Stereospecificity and PAX6 function direct Hoxd4 neural enhancer activity along the antero-posterior axis. Dev. Biol.: 2006, 299(2);582-93 PMID:17010333
  6. D Lang, F Chen, R Milewski, J Li, M M Lu, J A Epstein Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J. Clin. Invest.: 2000, 106(8);963-71 PMID:11032856
  7. M Schwarz, G Alvarez-Bolado, P Urbánek, M Busslinger, P Gruss Conserved biological function between Pax-2 and Pax-5 in midbrain and cerebellum development: evidence from targeted mutations. Proc. Natl. Acad. Sci. U.S.A.: 1997, 94(26);14518-23 PMID:9405645
  8. Nicole L Washington, Melissa A Haendel, Christopher J Mungall, Michael Ashburner, Monte Westerfield, Suzanna E Lewis Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol.: 2009, 7(11);e1000247 PMID:19956802 | PLoS Biol.
  9. Beatriz Sosa-Pineda The gene Pax4 is an essential regulator of pancreatic beta-cell development. Mol. Cells: 2004, 18(3);289-94 PMID:15650323
  10. K A Balczarek, Z C Lai, S Kumar Evolution of functional diversification of the paired box (Pax) DNA-binding domains. Mol. Biol. Evol.: 1997, 14(8);829-42 PMID:9254921
  11. Barbara Murdoch, Casey DelConte, Martín I García-Castro Pax7 lineage contributions to the mammalian neural crest. PLoS ONE: 2012, 7(7);e41089 PMID:22848431 | PMC2634972 | PLoS One.
  12. Asma Almaidhan, Jeffry Cesario, Andre Landin Malt, Yangu Zhao, Neeti Sharma, Veronica Choi, Juhee Jeong Neural crest-specific deletion of Ldb1 leads to cleft secondary palate with impaired palatal shelf elevation. BMC Dev. Biol.: 2014, 14(1);3 PMID:24433583 | BMC Dev Biol.

Search Bookshelf Pax

Reviews

Margaret Buckingham, Frédéric Relaix The role of Pax genes in the development of tissues and organs: Pax3 and Pax7 regulate muscle progenitor cell functions. Annu. Rev. Cell Dev. Biol.: 2007, 23;645-73 PMID:17506689

A Mansouri, G Goudreau, P Gruss Pax genes and their role in organogenesis. Cancer Res.: 1999, 59(7 Suppl);1707s-1709s; discussion 1709s-1710s PMID:10197584


Search Pubmed

Search Pubmed Now: Pax

http://www.ncbi.nlm.nih.gov/omim

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Cite this page: Hill, M.A. (2014) Embryology Developmental Signals - Pax. Retrieved July 25, 2014, from //embryology.med.unsw.edu.au/embryology/index.php?title=Developmental_Signals_-_Pax

What Links Here?
Dr Mark Hill 2014, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G