Hubaud, A. & Pourquié, O. Signalling dynamics in vertebrate segmentation. Nat. Rev. Mol. Cell Biol. 15, 709–721 (2014).
Article CAS PubMed Google Scholar
Bulman, M. P. et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat. Genet. 24, 438–441 (2000).
Article CAS PubMed Google Scholar
Sparrow, D. B., Guillén-Navarro, E., Fatkin, D. & Dunwoodie, S. L. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum. Mol. Genet. 17, 3761–3766 (2008).
Article CAS PubMed Google Scholar
Whittock, N. V. et al. Mutated MESP2 causes spondylocostal dysostosis in humans. Am. J. Hum. Genet. 74, 1249–1254 (2004).
Article CAS PubMed PubMed Central Google Scholar
McInerney-Leo, A. M. et al. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum. Mol. Genet. 24, 1234–1242 (2015).
Article CAS PubMed Google Scholar
Cornier, A. S. et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho–Levin syndrome. Am. J. Hum. Genet. 82, 1334–1341 (2008).
Article CAS PubMed PubMed Central Google Scholar
Sparrow, D. B. et al. A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell 149, 295–306 (2012).
Article CAS PubMed Google Scholar
Bouman, A. et al. Homozygous DMRT2 variant associates with severe rib malformations in a newborn. Am. J. Med. Genet. A 176, 1216–1221 (2018).
Article CAS PubMed Google Scholar
Turnpenny, P. D. et al. Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J. Med. Genet. 40, 333–339 (2003).
Article CAS PubMed PubMed Central Google Scholar
Sparrow, D. B. et al. Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Hum. Mol. Genet. 22, 1625–1631 (2013).
Article CAS PubMed Google Scholar
Mohamed, J. Y. et al. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel–Feil anomaly. Am. J. Hum. Genet. 92, 157–161 (2013).
Article CAS PubMed PubMed Central Google Scholar
Bayrakli, F. et al. Mutation in MEOX1 gene causes a recessive Klippel–Feil syndrome subtype. BMC Genet. 14, 95 (2013).
Article PubMed PubMed Central Google Scholar
Sparrow, D. B. et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am. J. Hum. Genet. 78, 28–37 (2006).
Article CAS PubMed Google Scholar
Gomez, C. et al. Control of segment number in vertebrate embryos. Nature 454, 335–339 (2008).
Article ADS CAS PubMed Google Scholar
Gomez, C. & Pourquié, O. Developmental control of segment numbers in vertebrates. J. Exp. Zool. B Mol. Dev. Evol. 312, 533–544 (2009).
Article PubMed PubMed Central Google Scholar
Kuan, C.-Y. K., Tannahill, D., Cook, G. M. W. & Keynes, R. J. Somite polarity and segmental patterning of the peripheral nervous system. Mech. Dev. 121, 1055–1068 (2004).
Fleming, A., Kishida, M. G., Kimmel, C. B. & Keynes, R. J. Building the backbone: the development and evolution of vertebral patterning. Development 142, 1733–1744 (2015).
Article CAS PubMed Google Scholar
Scaal, M. Early development of the vertebral column. Semin. Cell Dev. Biol. 49, 83–91 (2016).
Oates, A. C., Morelli, L. G. & Ares, S. Patterning embryos with oscillations: structure, function and dynamics of the vertebrate segmentation clock. Development 139, 625–639 (2012).
Article CAS PubMed Google Scholar
Diaz-Cuadros, M. & Pourquie, O. In vitro systems: a new window to the segmentation clock. Dev. Growth Differ. 63, 140–153 (2021).
Article PubMed PubMed Central Google Scholar
Lauschke, V. M., Tsiairis, C. D., François, P. & Aulehla, A. Scaling of embryonic patterning based on phase-gradient encoding. Nature 493, 101–105 (2013).
Article ADS PubMed Google Scholar
Hubaud, A., Regev, I., Mahadevan, L. & Pourquié, O. Excitable dynamics and yap-dependent mechanical cues drive the segmentation clock. Cell 171, 668–682.e11 (2017).
Article CAS PubMed PubMed Central Google Scholar
Simsek, M. F. & Özbudak, E. M. Spatial fold change of FGF signaling encodes positional information for segmental determination in zebrafish. Cell Rep. 24, 66–78.e8 (2018).
Article CAS PubMed Google Scholar
Matsumiya, M., Tomita, T., Yoshioka-Kobayashi, K., Isomura, A. & Kageyama, R. ES cell-derived presomitic mesoderm-like tissues for analysis of synchronized oscillations in the segmentation clock. Development 145, dev156836 (2018).
Article PubMed PubMed Central Google Scholar
Chu, L.-F. et al. An in vitro human segmentation clock model derived from embryonic stem cells. Cell Rep. 28, 2247–2255.e5 (2019).
Article CAS PubMed PubMed Central Google Scholar
Matsuda, M. et al. Recapitulating the human segmentation clock with pluripotent stem cells. Nature 580, 124–129 (2020).
Article ADS CAS PubMed Google Scholar
Diaz-Cuadros, M. et al. In vitro characterization of the human segmentation clock. Nature 580, 113–118 (2020). Together with references 25 and 26, this article establishes in vitro systems using human PSCs to identify the human segmentation clock.
Article ADS CAS PubMed PubMed Central Google Scholar
van den Brink, S. C. et al. Single-cell and spatial transcriptomics reveal somitogenesis in gastruloids. Nature 582, 405–409 (2020).
Article ADS PubMed Google Scholar
Veenvliet, J. V. et al. Mouse embryonic stem cells self-organize into trunk-like structures with neural tube and somites. Science 370, eaba4937 (2020).
Article CAS PubMed Google Scholar
Sanaki-Matsumiya, M. et al. Periodic formation of epithelial somites from human pluripotent stem cells. Nat. Commun. 13, 2325 (2022).
Article ADS CAS PubMed PubMed Central Google Scholar
Miao, Y. et al. Reconstruction and deconstruction of human somitogenesis in vitro. Nature 614, 500–508 (2023). This article establishes two organoid models of human somite formation, called somitoid and segmentoid, and reveals that cell sorting underlies somite anteroposterior polarity patterning.
Article ADS CAS PubMed Google Scholar
Yamanaka, Y. et al. Reconstituting human somitogenesis in vitro. Nature 614, 509–520 (2023). Here, the authors establish an organoid model of human somite formation called axioloid, characterize the model in detail and identify a crucial role of retinoic acid in somite epithelization in vitro.
Article ADS CAS PubMed Google Scholar
Yaman, Y. I. & Ramanathan, S. Controlling human organoid symmetry breaking reveals signaling gradients drive segmentation clock waves. Cell 186, 497–512 (2023). This article reports the use of bioengineering tools to establish an organoid model of human trunk consisting of the neural tube and somites and delineates roles of signalling gradients in regulating the wave dynamics of clock oscillations.
Schoenwolf, G. C., Bleyl, S. B., Brauer, P. R. & Francis-West, P. H. Larsen’s Human Embryology E-Book (Elsevier Health Sciences, 2020).
Palmeirim, I., Henrique, D., Ish-Horowicz, D. & Pourquié, O. Avian hairy gene expression identifies a molecular clock linked to vertebrate segmentation and somitogenesis. Cell 91, 639–648 (1997).
Article CAS PubMed Google Scholar
Masamizu, Y. et al. Real-time imaging of the somite segmentation clock: revelation of unstable oscillators in the individual presomitic mesoderm cells. Proc. Natl Acad. Sci. USA 103, 1313–1318 (2006).
Article ADS CAS PubMed PubMed Central Google Scholar
Aulehla, A. et al. A β-catenin gradient links the clock and wavefront systems in mouse embryo segmentation. Nat. Cell Biol. 10, 186 (2007).
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