Scoliosis and segmentation defects of the vertebrae

Walter L. Eckalbar, Rebecca E. Fisher, Alan Rawls, Kenro Kusumi

Research output: Contribution to journalReview articlepeer-review

44 Scopus citations


The vertebral column derives from somites, which are transient paired segments of mesoderm that surround the neural tube in the early embryo. Somites are formed by a genetic mechanism that is regulated by cyclical expression of genes in the Notch, Wnt, and fibroblast growth factor (FGF) signaling pathways. These oscillators together with signaling gradients within the presomitic mesoderm help to set somitic boundaries and rostral-caudal polarity that are essential for the precise patterning of the vertebral column. Disruption of this mechanism has been identified as the cause of severe segmentation defects of the vertebrae in humans. These segmentation defects are part of a spectrum of spinal disorders affecting the skeletal elements and musculature of the spine, resulting in curvatures such as scoliosis, kyphosis, and lordosis. While the etiology of most disorders with spinal curvatures is still unknown, genetic and developmental studies of somitogenesis and patterning of the axial skeleton and musculature are yielding insights into the causes of these diseases.

Original languageEnglish (US)
Pages (from-to)401-423
Number of pages23
JournalWiley Interdisciplinary Reviews: Developmental Biology
Issue number3
StatePublished - May 2012

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology


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