Developmental Signals - Pax: Difference between revisions

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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
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link. This search now requires a manual link as the original PubMed extension has been disabled. The displayed list of references do not reflect any editorial selection of material based on content or relevance. References also appear on 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. 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 molecular interaction^[2]

Mesoderm Development

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 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]

Molecular Development of Endocrine Pancreas Cells^[10]

Links: Endocrine Pancreas

Thymus Development

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)^[11]

Mouse Expression

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

E7.5 E8.5 neural fold
E9.5 Pax7 heart
E11.5 Trunk neural crest 1
E11.5 Trunk neural crest 2
E15.5 Pax7 limb

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

↑ <pubmed>9144207</pubmed>
↑ ^2.0 ^2.1 ^2.2 <pubmed>24496612</pubmed>| Development
↑ <pubmed>20082710</pubmed>| BMC Dev. Biol.
↑ <pubmed>20727173</pubmed>| PMC2939565 | BMC Dev Biol.
↑ <pubmed>17010333</pubmed>
↑ <pubmed>11032856</pubmed>
↑ <pubmed>9405645</pubmed>
↑ <pubmed>19956802</pubmed>| PLoS Biol.
↑ <pubmed>15650323</pubmed>
↑ <pubmed>23940571</pubmed>| PLoS One.
↑ <pubmed>9254921</pubmed>
↑ <pubmed>22848431</pubmed>| PMC2634972 | PLoS One.
↑ <pubmed>24433583</pubmed>| BMC Dev Biol.

Search Bookshelf Pax

Reviews

Search Pubmed

Search Pubmed Now: Pax

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

External Links

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. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.

OMIM - Pax6

Glossary Links

Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link

Cite this page: Hill, M.A. (2026, August 28) Embryology Developmental Signals - Pax. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Developmental_Signals_-_Pax

What Links Here?

[1] <pubmed>9144207</pubmed>

[PMID24496612-2] 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>

[PMID23940571-10] <pubmed>23940571</pubmed>| PLoS One.

[11] <pubmed>9254921</pubmed>

[PMID22848431-12] <pubmed>22848431</pubmed>| PMC2634972 | PLoS One.

[PMID24433583-13] <pubmed>24433583</pubmed>| BMC Dev Biol.

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[3]

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[5]

[6]

[7]

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@@ Line 9: / Line 9: @@
+Developmental Functions: Mesoderm | Neural | Vision | Pancreas | Pituitary| Thymus
 {{Factor Links}}
@@ Line 33: / Line 34: @@
 Pax and DNA molecular interaction<ref name=PMID24496612><pubmed>24496612</pubmed>| [http://dev.biologists.org/content/141/4/737.full Development]</ref>
-==Functions==
-===Mesoderm===
+==Mesoderm Development==
 [[File:Mesoderm_development_and_Pax_01.jpg|alt=Mesoderm Development and Pax cartoon|800px]]
 Mesoderm Development and Pax<ref name=PMID24496612><pubmed>24496612</pubmed>| [http://dev.biologists.org/content/141/4/737.full Development]</ref>
-===Neural===
+==Neural Development==
 [[File:Mouse-_early_Pax8_and_Pax2_expression.jpg|thumb|Mouse- early Pax8 and Pax2 expression<ref><pubmed>20727173</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939565 PMC2939565] | [http://www.biomedcentral.com/1471-213X/10/89 BMC Dev Biol.]</ref>]]
 * '''Hoxd4 gene a direct target of Pax6'''<ref><pubmed>17010333</pubmed></ref>
@@ Line 49: / Line 52: @@
 * Pax2 and Pax5 in midbrain and cerebellum development.<ref><pubmed>9405645</pubmed></ref>
-===Vision===
+==Vision Development==
 [[File:Pax6 eye phenotypes.jpg|600px]]
@@ Line 55: / Line 58: @@
 '''Pax6 mutation eye phenotypes'''<ref><pubmed>19956802</pubmed>| [http://www.plosbiology.org/article/info%3Adoi%2F10.1371%2Fjournal.pbio.1000247 PLoS Biol.]</ref>
-===Pancreas===
+==Pancreas Development==
+{|
-[[File:Molecular_endocrine_pancreas_cells_01.jpg|thumb|300px|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>]]
+|
 * '''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.<ref><pubmed>15650323</pubmed></ref>
+[[File:Molecular_endocrine_pancreas_cells_01.jpg|300px|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>
-===Thymus===
+:'''Links:''' [[Endocrine_-_Pancreas_Development|Endocrine Pancreas]]
+==Thymus Development==
 Pax1 mouse KO  thymus size reduction and impaired thymocyte maturation.