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Human developmental disorders and the Sonic hedgehog pathway

J E Ming1, E Roessler, M Muenke

  • 1Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.

Molecular Medicine Today
|October 2, 1998
PubMed
Summary
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Sonic hedgehog (Shh) is vital for organ development. Mutations in the SHH pathway cause developmental disorders like holoprosencephaly and Greig syndrome, revealing Shh

Area of Science:

  • Developmental Biology
  • Genetics
  • Molecular Biology

Background:

  • Sonic hedgehog (Shh) is a critical morphogen.
  • Shh signaling is essential for the development of numerous organ systems.
  • Aberrations in Shh signaling are linked to various congenital disorders.

Purpose of the Study:

  • To highlight the crucial role of Sonic hedgehog (Shh) in human development.
  • To elucidate the molecular mechanisms underlying Shh-related developmental disorders.
  • To provide insights into the normal function of the Shh pathway.

Main Methods:

  • Review of clinical disorders associated with SHH gene mutations.
  • Analysis of downstream intracellular signaling pathways.
  • Molecular characterization of congenital anomalies linked to Shh pathway dysfunction.

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Main Results:

  • Mutations in the SHH gene and its pathway cause significant developmental abnormalities.
  • Identified disorders include holoprosencephaly (HPE), nevoid basal cell carcinoma syndrome, and Greig syndrome.
  • Molecular analyses offer insights into Shh pathway function during development.

Conclusions:

  • The Sonic hedgehog (Shh) pathway is indispensable for normal human development.
  • Dysregulation of Shh signaling leads to a spectrum of congenital disorders.
  • Studying these disorders enhances our understanding of Shh's role in embryogenesis.