Developmental Signals - Pax: Difference between revisions

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==Transcription Factor==
[[File:Pax and DNA interaction.jpg|alt=Pax and DNA interaction cartoon|600px]]
Pax and DNA molecular interaction<ref name=PMID24496612><pubmed>24496612</pubmed>| [http://dev.biologists.org/content/141/4/737.full Development]</ref>
==Functions==
==Functions==



Revision as of 11:15, 8 July 2014

Embryology - 29 Mar 2024    Facebook link Pinterest link Twitter link  Expand to Translate  
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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: AMH | hCG | BMP | sonic hedgehog | bHLH | HOX | FGF | FOX | Hippo | LIM | Nanog | NGF | Nodal | Notch | PAX | retinoic acid | SIX | Slit2/Robo1 | SOX | TBX | TGF-beta | VEGF | WNT | Category:Molecular

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
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Search term: Development Pax

<pubmed limit=5>Development Pax</pubmed>

Transcription Factor

Pax and DNA interaction cartoon

Pax and DNA molecular interaction[2]

Functions

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. <pubmed>9144207</pubmed>
  2. 2.0 2.1 <pubmed>24496612</pubmed>| Development
  3. <pubmed>20082710</pubmed>| BMC Dev. Biol.
  4. <pubmed>20727173</pubmed>| PMC2939565 | BMC Dev Biol.
  5. <pubmed>17010333</pubmed>
  6. <pubmed>11032856</pubmed>
  7. <pubmed>9405645</pubmed>
  8. <pubmed>19956802</pubmed>| PLoS Biol.
  9. <pubmed>15650323</pubmed>
  10. <pubmed>9254921</pubmed>
  11. <pubmed>22848431</pubmed>| PMC2634972 | PLoS One.
  12. <pubmed>24433583</pubmed>| BMC Dev Biol.

Search Bookshelf Pax

Reviews

<pubmed>17506689</pubmed> <pubmed>10197584</pubmed>

Search Pubmed

Search Pubmed Now: Pax

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

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Cite this page: Hill, M.A. (2024, March 29) Embryology Developmental Signals - Pax. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Developmental_Signals_-_Pax

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G