Developmental Signals - Pax: Difference between revisions
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The following gallery is from a recent paper using a Pax7-cre/reporter mouse.<ref name=PMID22848431><pubmed>22848431</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2634972 PMC2634972] | [http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0041089 PLoS One.]</ref> | The following gallery is from a recent paper using a Pax7-cre/reporter mouse.<ref name=PMID22848431><pubmed>22848431</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2634972 PMC2634972] | [http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0041089 PLoS One.]</ref> | ||
<gallery> | <gallery> | ||
File:Mouse_pax7_neural_fold_01.jpg|E7.5 E8.5 neural fold | |||
File:Mouse_pax7_heart_01.jpg|E9.5 Pax7 heart | File:Mouse_pax7_heart_01.jpg|E9.5 Pax7 heart | ||
File:Mouse pax7 trunk neural crest 01.jpg|E11.5 Trunk neural crest 1 | File:Mouse pax7 trunk neural crest 01.jpg|E11.5 Trunk neural crest 1 |
Revision as of 12:25, 17 February 2013
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
|
Functions
Neural
- Hoxd4 gene a direct target of Pax6[4]
- 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.[5]
- Pax2 and Pax5 in midbrain and cerebellum development.[6]
Vision
Pax6 mutation eye phenotypes[7]
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.[8]
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)[9]
Mouse Expression
The following gallery is from a recent paper using a Pax7-cre/reporter mouse.[10]
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>
- ↑ <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>9254921</pubmed>
- ↑ <pubmed>22848431</pubmed>| PMC2634972 | PLoS One.
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
- 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. (2024, March 28) 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