Somitogenesis in the context of spondylocostal dysostosis (Homo sapiens)

From WikiPathways

Revision as of 22:38, 23 February 2024 by Eweitz (Talk | contribs)
Jump to: navigation, search
16, 1713922145, 1181315710111, 63, 412HES7RIPPLY2LFNGDLL1TBX6NOTCH1EPHA4DLL3MESP2OMIM:609813Spondylocostal Dysostosis 3, Autosomal RecessiveOMIM:613686Spondylocostal Dysostosis 4, Autosomal RecessiveOMIM:122600Spondylocostal Dysostosis 5OMIM:277300Spondylocostal Dysostosis 1, Autosomal RecessiveOMIM:616566Spondylocostal Dysostosis 6, Autosomal RecessiveOMIM:616028Adams-Oliver Syndrome 5OMIM:608681Spondylocostal Dysostosis 2, Autosomal Recessive


Description

Taken from The role of Notch in patterning the human vertebral column by Sally L Dunwoodie [1] and The many roles of Notch signaling during vertebrate somitogenesis by Kanu Wahi, Matthew S. Bochter, Susan E. Cole [2].

Spondylocostal dysostosis-associated genes refine Notch1 signaling in the anterior presomitic mesoderm in mammalian somitogenesis. Interaction between Notch pathway components. Dll1 activates Notch1 signaling producing N1ICD, and Dll3 inhibits Notch1 signaling. N1ICD activates transcription of Mesp2, Lfng and Hes7. Hes7 protein inhibits its own transcription and that of Lfng. The effect of Lfng on Notch1 signaling is contradictory; it can potentiate Notch1 signaling in cultured mammalian cells, and inhibit signaling in the embryo. Mesp2 protein activates the transcription of Lfng, Ripply2 and Epha4. Ripply2 inhibits the transcription of Mesp2 and Epha4 is implicated in somite border formation in zebrafish but is not required for this in mouse.

Linked with a dotted arrow to the GeneProduct nodes are diseases caused by mutation in the respective gene.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Cole SE, Levorse JM, Tilghman SM, Vogt TF; ''Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis.''; Dev Cell, 2002 PubMed Europe PMC Scholia
  2. Morimoto M, Takahashi Y, Endo M, Saga Y; ''The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity.''; Nature, 2005 PubMed Europe PMC Scholia
  3. Morimoto M, Sasaki N, Oginuma M, Kiso M, Igarashi K, Aizaki K, Kanno J, Saga Y; ''The negative regulation of Mesp2 by mouse Ripply2 is required to establish the rostro-caudal patterning within a somite.''; Development, 2007 PubMed Europe PMC Scholia
  4. Zhao W, Oginuma M, Ajima R, Kiso M, Okubo A, Saga Y; ''Ripply2 recruits proteasome complex for Tbx6 degradation to define segment border during murine somitogenesis.''; Elife, 2018 PubMed Europe PMC Scholia
  5. Yasuhiko Y, Haraguchi S, Kitajima S, Takahashi Y, Kanno J, Saga Y; ''Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression.''; Proc Natl Acad Sci U S A, 2006 PubMed Europe PMC Scholia
  6. Nakajima Y, Morimoto M, Takahashi Y, Koseki H, Saga Y; ''Identification of Epha4 enhancer required for segmental expression and the regulation by Mesp2.''; Development, 2006 PubMed Europe PMC Scholia
  7. Chen J, Kang L, Zhang N; ''Negative feedback loop formed by Lunatic fringe and Hes7 controls their oscillatory expression during somitogenesis.''; Genesis, 2005 PubMed Europe PMC Scholia
  8. Dunwoodie SL; ''The role of Notch in patterning the human vertebral column.''; Curr Opin Genet Dev, 2009 PubMed Europe PMC Scholia
  9. Yasuhiko Y, Kitajima S, Takahashi Y, Oginuma M, Kagiwada H, Kanno J, Saga Y; ''Functional importance of evolutionally conserved Tbx6 binding sites in the presomitic mesoderm-specific enhancer of Mesp2.''; Development, 2008 PubMed Europe PMC Scholia
  10. Bessho Y, Miyoshi G, Sakata R, Kageyama R; ''Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm.''; Genes Cells, 2001 PubMed Europe PMC Scholia
  11. Dale JK, Maroto M, Dequeant ML, Malapert P, McGrew M, Pourquie O; ''Periodic notch inhibition by lunatic fringe underlies the chick segmentation clock.''; Nature, 2003 PubMed Europe PMC Scholia
  12. Morales AV, Yasuda Y, Ish-Horowicz D; ''Periodic Lunatic fringe expression is controlled during segmentation by a cyclic transcriptional enhancer responsive to notch signaling.''; Dev Cell, 2002 PubMed Europe PMC Scholia
  13. Wahi K, Bochter MS, Cole SE; ''The many roles of Notch signaling during vertebrate somitogenesis.''; Semin Cell Dev Biol, 2016 PubMed Europe PMC Scholia
  14. Ladi E, Nichols JT, Ge W, Miyamoto A, Yao C, Yang LT, Boulter J, Sun YE, Kintner C, Weinmaster G; ''The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands.''; J Cell Biol, 2005 PubMed Europe PMC Scholia
  15. Yang LT, Nichols JT, Yao C, Manilay JO, Robey EA, Weinmaster G; ''Fringe glycosyltransferases differentially modulate Notch1 proteolysis induced by Delta1 and Jagged1.''; Mol Biol Cell, 2005 PubMed Europe PMC Scholia
  16. Oginuma M, Niwa Y, Chapman DL, Saga Y; ''Mesp2 and Tbx6 cooperatively create periodic patterns coupled with the clock machinery during mouse somitogenesis.''; Development, 2008 PubMed Europe PMC Scholia
  17. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O; ''Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.''; Am J Hum Genet, 2008 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
128865view22:46, 23 February 2024EweitzStandardize case
128864view22:44, 23 February 2024EweitzSoften disease color
128863view22:41, 23 February 2024EweitzOntology Term : 'spondylocostal dysostosis 6' added !
128862view22:41, 23 February 2024EweitzOntology Term : 'spondylocostal dysostosis 5' added !
128861view22:39, 23 February 2024EweitzOntology Term : 'spondylocostal dysostosis 4' added !
128860view22:38, 23 February 2024EweitzOntology Term : 'spondylocostal dysostosis 3' added !
128859view22:38, 23 February 2024EweitzOntology Term : 'spondylocostal dysostosis 2' added !
128858view22:38, 23 February 2024EweitzOntology Term : 'spondylocostal dysostosis 1' added !
128857view22:37, 23 February 2024EweitzOntology Term : 'Adams-Oliver syndrome' added !
111735view17:25, 3 September 2020KhanspersOntology Term : 'altered Notch signaling pathway' added !
109332view23:33, 13 March 2020KhanspersOntology Term : 'spondylocostal dysostosis' added !
108794view03:11, 30 January 2020RleeUpdated literature references.
108793view03:09, 30 January 2020RleeModified description
108792view03:02, 30 January 2020RleeModified description
108791view03:01, 30 January 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
DLL1GeneProductENSG00000198719 (Ensembl)
DLL3GeneProductENSG00000090932 (Ensembl)
EPHA4GeneProductENSG00000116106 (Ensembl)
HES7GeneProductENSG00000179111 (Ensembl)
LFNGGeneProductENSG00000106003 (Ensembl)
MESP2GeneProductENSG00000188095 (Ensembl)
NOTCH1GeneProductENSG00000148400 (Ensembl)
RIPPLY2GeneProductENSG00000203877 (Ensembl)
TBX6GeneProductENSG00000149922 (Ensembl)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4785"
Personal tools