Developmental Signals - Pax: Difference between revisions
mNo edit summary |
mNo edit summary |
||
Line 15: | Line 15: | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| | | | ||
* '''The axolotl genome and the evolution of key tissue formation regulators'''{{#pmid:29364872|PMID29364872}} "Salamanders serve as important tetrapod models for developmental, regeneration and evolutionary studies. An extensive molecular toolkit makes the Mexican axolotl (Ambystoma mexicanum) a key representative salamander for molecular investigations. Here we report the sequencing and assembly of the 32-gigabase-pair axolotl genome using an approach that combined long-read sequencing, optical mapping and development of a new genome assembler (MARVEL). We observed a size expansion of introns and intergenic regions, largely attributable to multiplication of long terminal repeat retroelements. We provide evidence that intron size in developmental genes is under constraint and that species-restricted genes may contribute to limb regeneration. The axolotl genome assembly does not contain the essential developmental gene Pax3. However, mutation of the axolotl Pax3 paralogue Pax7 resulted in an axolotl phenotype that was similar to those seen in Pax3-/- and Pax7-/- mutant mice." [[Developmental Signals - Pax|Pax]] | |||
* '''The Pax gene family: Highlights from cephalopods''' | * '''The Pax gene family: Highlights from cephalopods'''{{#pmid:28253300|PMID28253300}} "Pax genes play important roles in Metazoan development. Their evolution has been extensively studied but Lophotrochozoa are usually omitted. We addressed the question of Pax paralog diversity in Lophotrochozoa by a thorough review of available databases. The existence of six Pax families (Pax1/9, Pax2/5/8, Pax3/7, Pax4/6, Paxβ, PoxNeuro) was confirmed and the lophotrochozoan Paxβ subfamily was further characterized. Contrary to the pattern reported in chordates, the Pax2/5/8 family is devoid of homeodomain in Lophotrochozoa. Expression patterns of the three main pax classes (pax2/5/8, pax3/7, pax4/6) during Sepia officinalis development showed that Pax roles taken as ancestral and common in metazoans are modified in S. officinalis, most likely due to either the morphological specificities of cephalopods or to their direct development. Some expected expression patterns were missing (e.g. pax6 in the developing retina), and some expressions in unexpected tissues have been found (e.g. pax2/5/8 in dermal tissue and in gills). This study underlines the diversity and functional plasticity of Pax genes and illustrates the difficulty of using probable gene homology as strict indicator of homology between biological structures." | ||
* '''Review - Pax genes: regulators of lineage specification and progenitor cell maintenance''' | |||
* '''Downstream genes of Pax6 in the developing rat hindbrain''' | * '''Review - Pax genes: regulators of lineage specification and progenitor cell maintenance'''{{#pmid:24496612|PMID24496612}} "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'''{{#pmid:20082710|PMID20082710}} "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." | |||
|} | |} | ||
{| class="wikitable mw-collapsible mw-collapsed" | {| class="wikitable mw-collapsible mw-collapsed" | ||
Line 41: | Line 44: | ||
[[File:Pax and DNA interaction.jpg|alt=Pax and DNA interaction cartoon|400px]] | [[File:Pax and DNA interaction.jpg|alt=Pax and DNA interaction cartoon|400px]] | ||
Pax and DNA molecular interaction | Pax and DNA molecular interaction{{#pmid:24496612|PMID24496612}} | ||
==Mesoderm Development== | ==Mesoderm Development== | ||
Line 48: | Line 50: | ||
[[File:Mesoderm_development_and_Pax_01.jpg|alt=Mesoderm Development and Pax cartoon|800px]] | [[File:Mesoderm_development_and_Pax_01.jpg|alt=Mesoderm Development and Pax cartoon|800px]] | ||
Mesoderm Development and Pax | Mesoderm Development and Pax{{#pmid:24496612|PMID24496612}} | ||
==Neural Development== | ==Neural Development== | ||
[[File:Mouse-_early_Pax8_and_Pax2_expression.jpg|thumb|Mouse- early Pax8 and Pax2 expression | [[File:Mouse-_early_Pax8_and_Pax2_expression.jpg|thumb|Mouse- early Pax8 and Pax2 expression{{#pmid:20727173|PMID20727173}}]] | ||
* '''Hoxd4 gene a direct target of Pax6'''<ref><pubmed>17010333</pubmed></ref> | * '''Hoxd4 gene a direct target of Pax6'''<ref><pubmed>17010333</pubmed></ref> | ||
** mouse embryo - Hoxd4 expression in rhombomere 7 and the spinal cord is reduced to some extent in the Pax6 mutant | ** mouse embryo - Hoxd4 expression in rhombomere 7 and the spinal cord is reduced to some extent in the Pax6 mutant | ||
Line 58: | Line 60: | ||
* Pax3 is expressed in the somite, neural tube, and neural crest. | * Pax3 is expressed in the somite, neural tube, and neural crest. | ||
* Pax3 is required for enteric ganglia formation. | * Pax3 is required for enteric ganglia formation.{{#pmid:11032856|PMID11032856}} | ||
* Pax2 and Pax5 in midbrain and cerebellum development. | * Pax2 and Pax5 in midbrain and cerebellum development.{{#pmid:9405645|PMID9405645}} | ||
==Vision Development== | ==Vision Development== | ||
Line 65: | Line 67: | ||
[[File:Pax6 eye phenotypes.jpg|600px]] | [[File:Pax6 eye phenotypes.jpg|600px]] | ||
'''Pax6 mutation eye phenotypes''' | '''Pax6 mutation eye phenotypes'''{{#pmid:19956802|PMID19956802}} | ||
==Pancreas Development== | ==Pancreas Development== | ||
Line 71: | Line 73: | ||
* '''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. | * '''Pax4''' is a regulator of pancreatic beta cell development.{{#pmid:15650323|PMID15650323}} | ||
{| | {| | ||
! Developmental Factors | ! Developmental Factors | ||
Line 112: | Line 114: | ||
==Mouse Expression== | ==Mouse Expression== | ||
The following gallery is from a recent paper using a Pax7-cre/reporter mouse. | The following gallery is from a recent paper using a Pax7-cre/reporter mouse.{{#pmid:22848431|PMID22848431}} | ||
<gallery> | <gallery> | ||
File:Mouse_pax7_neural_fold_01.jpg|E7.5 E8.5 neural fold | File:Mouse_pax7_neural_fold_01.jpg|E7.5 E8.5 neural fold | ||
Line 123: | Line 125: | ||
[[File:Mouse_palate_gene_expression_01.jpg|600px]] | [[File:Mouse_palate_gene_expression_01.jpg|600px]] | ||
Mouse Palatal Shelf Wnt5a, Osr2 and Pax9 Expression. | Mouse Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.{{#pmid:24433583|PMID24433583}} | ||
The following data is from a recent paper using a Pax9 reporter. | The following data is from a recent paper using a Pax9 reporter.{{#pmid:25299669|PMID25299669}} | ||
{| | {| | ||
! Mouse Tongue Pax9 Expression in Different Taste Papillae | ! Mouse Tongue Pax9 Expression in Different Taste Papillae | ||
Line 198: | Line 200: | ||
===Reviews=== | ===Reviews=== | ||
{{#pmid:17506689}} | |||
{{#pmid:10197584}} | |||
===Search Pubmed=== | ===Search Pubmed=== |
Revision as of 08:29, 13 March 2018
Embryology - 28 Mar 2024 Expand to Translate |
---|
Google Translate - select your language from the list shown below (this will open a new external page) |
العربية | català | 中文 | 中國傳統的 | français | Deutsche | עִברִית | हिंदी | bahasa Indonesia | italiano | 日本語 | 한국어 | မြန်မာ | Pilipino | Polskie | português | ਪੰਜਾਬੀ ਦੇ | Română | русский | Español | Swahili | Svensk | ไทย | Türkçe | اردو | ייִדיש | Tiếng Việt These external translations are automated and may not be accurate. (More? About Translations) |
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.
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
|
More recent papers |
---|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Development Pax <pubmed limit=5>Development Pax</pubmed> |
Human PAX Family
Table - Human Pax Family | ||||
Approved Symbol |
Approved Name | Previous Symbols |
Synonyms | Chromosome |
---|---|---|---|---|
PAX1 | paired box 1 | 20p11.22 | ||
PAX2 | paired box 2 | 10q24.31 | ||
PAX3 | paired box 3 | WS1 | HUP2 | 2q36.1 |
PAX4 | paired box 4 | MODY9 | 7q32.1 | |
PAX5 | paired box 5 | BSAP | 9p13.2 | |
PAX6 | paired box 6 | AN2 | "D11S812E, AN, WAGR" | 11p13 |
PAX7 | paired box 7 | Hup1 | 1p36.13 | |
PAX8 | paired box 8 | 2q14.1 | ||
PAX9 | paired box 9 | 14q13.3 | ||
Links: Developmental Signals - Pax | OMIM Pax1 | HGNC | Bmp Family | Fgf Family | Pax Family | Sox Family | Tbx Family |
Human PAX Family | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Transcription Factor
Pax and DNA molecular interaction[4]
Mesoderm Development
Mesoderm Development and Pax[4]
Neural Development
- Hoxd4 gene a direct target of Pax6[7]
- 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.[8]
- Pax2 and Pax5 in midbrain and cerebellum development.[9]
Vision Development
Pax6 mutation eye phenotypes[10]
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.[11]
Developmental Factors | |
---|---|
|
Molecular Development of Endocrine Pancreas Cells[12] |
- 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)[13]
Mouse Expression
The following gallery is from a recent paper using a Pax7-cre/reporter mouse.[14]
Mouse Palatal Shelf Wnt5a, Osr2 and Pax9 Expression.[15]
The following data is from a recent paper using a Pax9 reporter.[16]
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)
- Links: Vision Abnormalities
Pax7
- rhabdomyosarcoma type 2 (RMS2)
Pax8
- congenital hypothyroidism non-goitrous type 2 (CHNG2)
- Links:Thyroid Abnormalities
References
- ↑ <pubmed>9144207</pubmed>
- ↑ Nowoshilow S, Schloissnig S, Fei JF, Dahl A, Pang AWC, Pippel M, Winkler S, Hastie AR, Young G, Roscito JG, Falcon F, Knapp D, Powell S, Cruz A, Cao H, Habermann B, Hiller M, Tanaka EM & Myers EW. (2018). The axolotl genome and the evolution of key tissue formation regulators. Nature , 554, 50-55. PMID: 29364872 DOI.
- ↑ Navet S, Buresi A, Baratte S, Andouche A, Bonnaud-Ponticelli L & Bassaglia Y. (2017). The Pax gene family: Highlights from cephalopods. PLoS ONE , 12, e0172719. PMID: 28253300 DOI.
- ↑ 4.0 4.1 4.2 Blake JA & Ziman MR. (2014). Pax genes: regulators of lineage specification and progenitor cell maintenance. Development , 141, 737-51. PMID: 24496612 DOI.
- ↑ Numayama-Tsuruta K, Arai Y, Takahashi M, Sasaki-Hoshino M, Funatsu N, Nakamura S & Osumi N. (2010). Downstream genes of Pax6 revealed by comprehensive transcriptome profiling in the developing rat hindbrain. BMC Dev. Biol. , 10, 6. PMID: 20082710 DOI.
- ↑ Bouchard M, de Caprona D, Busslinger M, Xu P & Fritzsch B. (2010). Pax2 and Pax8 cooperate in mouse inner ear morphogenesis and innervation. BMC Dev. Biol. , 10, 89. PMID: 20727173 DOI.
- ↑ <pubmed>17010333</pubmed>
- ↑ Lang D, Chen F, Milewski R, Li J, Lu MM & Epstein JA. (2000). Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J. Clin. Invest. , 106, 963-71. PMID: 11032856 DOI.
- ↑ Schwarz M, Alvarez-Bolado G, Urbánek P, Busslinger M & Gruss P. (1997). Conserved biological function between Pax-2 and Pax-5 in midbrain and cerebellum development: evidence from targeted mutations. Proc. Natl. Acad. Sci. U.S.A. , 94, 14518-23. PMID: 9405645
- ↑ Washington NL, Haendel MA, Mungall CJ, Ashburner M, Westerfield M & Lewis SE. (2009). Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol. , 7, e1000247. PMID: 19956802 DOI.
- ↑ Sosa-Pineda B. (2004). The gene Pax4 is an essential regulator of pancreatic beta-cell development. Mol. Cells , 18, 289-94. PMID: 15650323
- ↑ <pubmed>23940571</pubmed>| PLoS One.
- ↑ <pubmed>9254921</pubmed>
- ↑ Murdoch B, DelConte C & García-Castro MI. (2012). Pax7 lineage contributions to the mammalian neural crest. PLoS ONE , 7, e41089. PMID: 22848431 DOI.
- ↑ Almaidhan A, Cesario J, Landin Malt A, Zhao Y, Sharma N, Choi V & Jeong J. (2014). Neural crest-specific deletion of Ldb1 leads to cleft secondary palate with impaired palatal shelf elevation. BMC Dev. Biol. , 14, 3. PMID: 24433583 DOI.
- ↑ Kist R, Watson M, Crosier M, Robinson M, Fuchs J, Reichelt J & Peters H. (2014). The formation of endoderm-derived taste sensory organs requires a Pax9-dependent expansion of embryonic taste bud progenitor cells. PLoS Genet. , 10, e1004709. PMID: 25299669 DOI.
Search Bookshelf Pax
Reviews
Buckingham M & Relaix F. (2007). The role of Pax genes in the development of tissues and organs: Pax3 and Pax7 regulate muscle progenitor cell functions. Annu. Rev. Cell Dev. Biol. , 23, 645-73. PMID: 17506689 DOI.
Mansouri A, Goudreau G & Gruss P. (1999). Pax genes and their role in organogenesis. Cancer Res. , 59, 1707s-1709s; discussion 1709s-1710s. PMID: 10197584
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. (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