Developmental Signals - Pax: Difference between revisions

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==Pancreas Development==
==Pancreas Development==
{|
 
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* '''Pax6''' acts in endocrine development in the pancreas as a glucagon gene transactivator role in alpha (α) cell development.
* '''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.
* '''Pax2''' is also expressed in the pancreas.
* '''Pax4''' is a regulator of pancreatic beta cell development.<ref><pubmed>15650323</pubmed></ref>
* '''Pax4''' is a regulator of pancreatic beta cell development.<ref><pubmed>15650323</pubmed></ref>
[[File:Molecular_endocrine_pancreas_cells_01.jpg|300px|alt=Molecular Development of Endocrine Pancreas Cells]]
{|
! Developmental Factors
|-
|
* '''Ngn3''' - Neurogenin3 [http://omim.org/entry/604882 OMIM 604882]
** basic helix-loop-helix transcription factor involved in the determination of neural precursor cells in the neuroectoderm.
* '''Nkx2.2''' - NK2 Homeobox 2 [http://omim.org/entry/604612 OMIM 604612]
** homeobox (Hox) containing transcription factor contain a 60-amino acid evolutionarily conserved DNA-binding homeodomain.
* '''NeuroD1''' - Neurogenic Differentiation 1 [http://omim.org/entry/601724 OMIM 601724]
** a basic helix-loop-helix (bHLH) protein that acts as a transcription factors involved in determining cell type during development.
* '''Arx''' - Aristaless-Related Homeobox, X-Linked [http://www.omim.org/entry/300382 OMIM 300382]
** homeobox protein that belongs to the Aristaless-related subset of the paired (Prd) class of homeodomain proteins.
* '''Pax4''' - Paired Box Gene 4 [http://omim.org/entry/167413 OMIM 167413]
** transcription factor containing a paired box domain.
* '''Pax6''' [http://omim.org/entry/607108 OMIM 607108]
** transcription factor containing a paired box domain.
 
| [[File:Molecular_endocrine_pancreas_cells_01.jpg|400px|alt=Molecular Development of Endocrine Pancreas Cells]]


Molecular Development of Endocrine Pancreas Cells<ref name = PMID23940571><pubmed>23940571</pubmed>| [http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0070397 PLoS One.]</ref>
Molecular Development of Endocrine Pancreas Cells<ref name = PMID23940571><pubmed>23940571</pubmed>| [http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0070397 PLoS One.]</ref>
 
|}


:'''Links:''' [[Endocrine_-_Pancreas_Development|Endocrine Pancreas]]
:'''Links:''' [[Endocrine_-_Pancreas_Development|Endocrine Pancreas]]
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Pax1 mouse KO  thymus size reduction and impaired thymocyte maturation.
Pax1 mouse KO  thymus size reduction and impaired thymocyte maturation.


:'''Links:''' [[Endocrine_-_Thymus_Development|Thymus Pancreas]]
==Structure==
==Structure==


Revision as of 08:26, 31 August 2014

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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.


Developmental Functions: Mesoderm | Neural | Vision | Pancreas | Pituitary| Thymus

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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More? References | Discussion Page | Journal Searches | 2019 References | 2020 References

Search term: Development Pax

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

Transcription Factor

Pax and DNA interaction cartoon

Pax and DNA molecular interaction[2]


Mesoderm Development

Mesoderm Development and Pax cartoon

Mesoderm Development and Pax[2]


Neural Development

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 Development

Pax6 eye phenotypes.jpg

Pax6 mutation eye phenotypes[8]

Pancreas Development

  • 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]
Developmental Factors
  • Ngn3 - Neurogenin3 OMIM 604882
    • basic helix-loop-helix transcription factor involved in the determination of neural precursor cells in the neuroectoderm.
  • Nkx2.2 - NK2 Homeobox 2 OMIM 604612
    • homeobox (Hox) containing transcription factor contain a 60-amino acid evolutionarily conserved DNA-binding homeodomain.
  • NeuroD1 - Neurogenic Differentiation 1 OMIM 601724
    • a basic helix-loop-helix (bHLH) protein that acts as a transcription factors involved in determining cell type during development.
  • Arx - Aristaless-Related Homeobox, X-Linked OMIM 300382
    • homeobox protein that belongs to the Aristaless-related subset of the paired (Prd) class of homeodomain proteins.
  • Pax4 - Paired Box Gene 4 OMIM 167413
    • transcription factor containing a paired box domain.
  • Pax6 OMIM 607108
    • transcription factor containing a paired box domain.
 Molecular Development of Endocrine Pancreas Cells

Molecular Development of Endocrine Pancreas Cells[10]

Links: Endocrine Pancreas

Thymus Development

Pax1 mouse KO thymus size reduction and impaired thymocyte maturation.


Links: Thymus Pancreas

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)[11]

Mouse Expression

The following gallery is from a recent paper using a Pax7-cre/reporter mouse.[12]

  • E7.5 E8.5 neural fold

    E7.5 E8.5 neural fold

  • E9.5 Pax7 heart

    E9.5 Pax7 heart

  • E11.5 Trunk neural crest 1

    E11.5 Trunk neural crest 1

  • E11.5 Trunk neural crest 2

    E11.5 Trunk neural crest 2

  • E15.5 Pax7 limb

    E15.5 Pax7 limb

Mouse palate gene expression 01.jpg

Mouse Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.[13]


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 2.2 <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>23940571</pubmed>| PLoS One.
  11. ↑ <pubmed>9254921</pubmed>
  12. ↑ <pubmed>22848431</pubmed>| PMC2634972 | PLoS One.
  13. ↑ <pubmed>24433583</pubmed>| BMC Dev Biol.

Search Bookshelf Pax

Reviews

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

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Cite this page: Hill, M.A. (2024, April 18) Embryology Developmental Signals - Pax. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Developmental_Signals_-_Pax

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