Somitogenesis in the context of spondylocostal dysostosis (Homo sapiens)

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1610413151, 77119, 1463325, 8412NOTCH1LFNGHES7DLL3RIPPLY2MESP2DLL1EPHA4TBX6OMIM: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

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Quality Tags

Ontology Terms

 

Bibliography

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  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

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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

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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

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