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Updated: Jul 15, 2026
12:59
Three and Four-Dimensional Visualization and Analysis Approaches to Study Vertebrate Axial Elongation and Segmentation
Published on: February 28, 2021
Abnormal vertebral segmentation and the notch signaling pathway in man
Peter D Turnpenny1, Ben Alman, Alberto S Cornier
1Clinical Genetics, Royal Devon & Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom. peter.turnpenny@rdeft.nhs.uk
Summary
Abnormal vertebral segmentation (AVS) is a common congenital issue. Research links genes like DLL3, MESP2, and LNFG to spondylocostal dysostosis (SCD), improving understanding of these complex developmental disorders.
Area of Science:
- Developmental biology
- Human genetics
- Skeletal dysplasias
Background:
- Abnormal vertebral segmentation (AVS) is a common congenital malformation in humans.
- Animal model research on somitogenesis offers insights into human AVS.
- Understanding AVS genetics is challenging due to infrequent Mendelian inheritance patterns.
Purpose of the Study:
- To review advances in the cell biology and molecular genetics of somitogenesis relevant to human AVS.
- To discuss identified genes (DLL3, MESP2, LNFG) for spondylocostal dysostosis (SCD).
- To propose a new classification system for AVS phenotypes.
Main Methods:
- DNA linkage analysis in families with clustered AVS cases.
- Candidate gene approach to identify genes involved in AVS.
- Review of existing literature on AVS, SCD, and Alagille syndrome (AGS).
Main Results:
- Three genes (DLL3, MESP2, LNFG) identified for spondylocostal dysostosis (SCD).
- SCD characterized by hemivertebrae, trunk shortening, and fused ribs.
- Genes identified are part of the Notch signaling pathway, also implicated in AGS and CADASIL.
Conclusions:
- Advances in animal models are crucial for understanding human AVS.
- Notch signaling pathway genes play a significant role in various skeletal dysplasias.
- A standardized classification system is needed for AVS phenotypes to reduce confusion.
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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
03:14Notch Signaling Pathway
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
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