Developmental Signals - Pax
Introduction
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
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Functions
Neural
- Hoxd4 gene a direct target of Pax6[3]
- 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.[4]
- Pax2 and Pax5 in midbrain and cerebellum development.[5]
Vision
Pax6 mutation eye phenotypes[6]
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.[7]
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)[8]
Abnormalities
Associated with defects in each Pax protein or their signaling pathway.
Pax3
- Waardenburg syndrome type 1 (WS1)
- Waardenburg syndrome type 3 (WS3)
- craniofacial-deafness-hand syndrome (CDHS)
- rhabdomyosarcoma type 2 (RMS2)
Pax5
- acute lymphoblastic leukemia
References
- ↑ <pubmed>9144207</pubmed>
- ↑ <pubmed>20082710</pubmed>| BMC Dev. Biol.
- ↑ <pubmed>17010333</pubmed>
- ↑ <pubmed>11032856</pubmed>
- ↑ <pubmed>9405645</pubmed>
- ↑ <pubmed>19956802</pubmed>| PLoS Biol.
- ↑ <pubmed>15650323</pubmed>
- ↑ <pubmed>9254921</pubmed>
Search Bookshelf Pax
Reviews
<pubmed>17506689</pubmed> <pubmed>10197584</pubmed>
Search Pubmed
Search Pubmed Now: Pax
http://www.ncbi.nlm.nih.gov/omim
External Links
- OMIM - Pax6
Glossary Links
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Cite this page: Hill, M.A. (2024, April 19) Embryology Developmental Signals - Pax. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Developmental_Signals_-_Pax
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G