Developmental Signals - Pax
|Embryology - 9 Feb 2016 Translate|
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- 1 Introduction
- 2 Some Recent Findings
- 3 Transcription Factor
- 4 Mesoderm Development
- 5 Neural Development
- 6 Vision Development
- 7 Pancreas Development
- 8 Thymus Development
- 9 Structure
- 10 Mouse Expression
- 11 Abnormalities
- 12 References
- 13 External Links
- 14 Glossary Links
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.
Developmental Functions: Mesoderm | Neural | Vision | Pancreas | Pituitary| Thymus
- Factor Links: hCG | BMP | Sonic hedgehog | Homeobox | FGF | Nanog | Notch | Fox | Pax | Retinoic acid | Six | Slit2/Robo1 | Sox | Tbx | TGF-beta | VEGF | Wnt | Hippo | Category:Molecular
Some Recent Findings
|More recent papers|
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.
Mingliang Chen, Chenying Wang, Wei Wang, Gubiao Ji, Bin Hu, Mi Du, Guosheng Liu, Zengpeng Li, Weiyi Wang, Xiangzhi Lin, Weibing Zheng, Jianming Chen De Novo Assembly and Characterization of Early Embryonic Transcriptome of the Horseshoe Crab Tachypleus tridentatus. PLoS ONE: 2016, 11(1);e0145825 PubMed 26731763
Jyotsna Dhingra Behl, Priyanka Mishra, N K Verma, S K Niranjan, P S Dangi, Rekha Sharma, Rahul Behl Nucleotide polymorphisms in the bovine lymphotoxin A gene and their distribution among Bos indicus zebu cattle breeds. Gene: 2015; PubMed 26724420
Amandine Bery, Yohann Mérot, Sylvie Rétaux Genes expressed in mouse cortical progenitors are enriched in Pax, Lhx, and Sox transcription factor putative binding sites. Brain Res.: 2015; PubMed 26721689
Frédéric Relaix Pax genes: Master regulators of development and tissue homeostasis. Semin. Cell Dev. Biol.: 2015, 44;62-3 PubMed 26603861
Philippe Daubas, Nathalie Duval, Lola Bajard, Francina Langa Vives, Benoît Robert, Baljinder S Mankoo, Margaret Buckingham Fine-tuning the onset of myogenesis by homeobox proteins that interact with the Myf5 limb enhancer. Biol Open: 2015; PubMed 26538636
Pax and DNA molecular interaction
Mesoderm Development and Pax
- Hoxd4 gene a direct target of Pax6
- 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.
- Pax2 and Pax5 in midbrain and cerebellum development.
Pax6 mutation eye phenotypes
- 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.
Molecular Development of Endocrine Pancreas Cells
- Links: Endocrine Pancreas
Pax1 mouse KO thymus size reduction and impaired thymocyte maturation.
- Links: Thymus Pancreas
- 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)
The following gallery is from a recent paper using a Pax7-cre/reporter mouse.
Mouse Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.
The following data is from a recent paper using a Pax9 reporter.
Associated with defects in each Pax protein or their signaling pathway.
- renal-coloboma syndrome (RCS)
- Waardenburg syndrome type 1 (WS1)
- Waardenburg syndrome type 3 (WS3)
- craniofacial-deafness-hand syndrome (CDHS)
- rhabdomyosarcoma type 2 (RMS2)
- acute lymphoblastic leukemia
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)
- Links: Vision Abnormalities
- rhabdomyosarcoma type 2 (RMS2)
- congenital hypothyroidism non-goitrous type 2 (CHNG2)
- Links:Thyroid Abnormalities
- 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 PubMed 9144207
- Judith A Blake, Melanie R Ziman Pax genes: regulators of lineage specification and progenitor cell maintenance. Development: 2014, 141(4);737-51 PubMed 24496612 | Development
- 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 PubMed 20082710 | BMC Dev. Biol.
- 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 PubMed 20727173 | PMC2939565 | BMC Dev Biol.
- 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 PubMed 17010333
- 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 PubMed 11032856
- 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 PubMed 9405645
- 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 PubMed 19956802 | PLoS Biol.
- Beatriz Sosa-Pineda The gene Pax4 is an essential regulator of pancreatic beta-cell development. Mol. Cells: 2004, 18(3);289-94 PubMed 15650323
- Yaron Suissa, Judith Magenheim, Miri Stolovich-Rain, Ayat Hija, Patrick Collombat, Ahmed Mansouri, Lori Sussel, Beatriz Sosa-Pineda, Kyle McCracken, James M Wells, R Scott Heller, Yuval Dor, Benjamin Glaser Gastrin: a distinct fate of neurogenin3 positive progenitor cells in the embryonic pancreas. PLoS ONE: 2013, 8(8);e70397 PubMed 23940571 | PLoS One.
- 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 PubMed 9254921
- Barbara Murdoch, Casey DelConte, Martín I García-Castro Pax7 lineage contributions to the mammalian neural crest. PLoS ONE: 2012, 7(7);e41089 PubMed 22848431 | PMC2634972 | PLoS One.
- 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;3 PubMed 24433583 | BMC Dev Biol.
- Ralf Kist, Michelle Watson, Moira Crosier, Max Robinson, Jennifer Fuchs, Julia Reichelt, Heiko Peters The formation of endoderm-derived taste sensory organs requires a pax9-dependent expansion of embryonic taste bud progenitor cells. PLoS Genet.: 2014, 10(10);e1004709 PubMed 25299669 | PLoS Genet.
Search Bookshelf Pax
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 PubMed 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 PubMed 10197584
Search Pubmed Now: Pax
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name.
- OMIM - Pax6
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Cite this page: Hill, M.A. (2016) Embryology Developmental Signals - Pax. Retrieved February 9, 2016, from https://embryology.med.unsw.edu.au/embryology/index.php/Developmental_Signals_-_Pax
- © Dr Mark Hill 2016, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G