WP4785 - Somitogenesis in the context of spondylocostal dysostosis - Homo sapiens

Taken from The role of Notch in patterning the human vertebral column by Sally L Dunwoodie [https://www.ncbi.nlm.nih.gov/pubmed/19608404] and The many roles of Notch signaling during vertebrate somitogenesis by Kanu Wahi, Matthew S. Bochter, Susan E. Cole [https://www.ncbi.nlm.nih.gov/pubmed/25483003].

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.