Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The VACTERL association: lessons from the Sonic hedgehog pathway.

J Kim1, P Kim, C C Hui

  • 1Program in Developmental Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Clinical Genetics
|May 22, 2001
PubMed
Summary

Defective Sonic hedgehog (Shh) signaling, crucial for development, causes anomalies in mice resembling VACTERL syndrome in humans. Gli mutant mice offer a model for studying this rare congenital condition.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues.

Journal of medical genetics·2004
Same author

Shh expression is required for embryonic hair follicle but not mammary gland development.

Developmental biology·2003
Same author

Anorectal malformations caused by defects in sonic hedgehog signaling.

The American journal of pathology·2001
Same author

Suppressor of fused negatively regulates beta-catenin signaling.

The Journal of biological chemistry·2001
Same author

Evidence for the differential regulation of Nkx-6.1 expression in the ventral spinal cord and foregut by Shh-dependent and -independent mechanisms.

Genesis (New York, N.Y. : 2000)·2000
Same author

Cloning and characterization of the murine glucosamine-6-phosphate acetyltransferase EMeg32. Differential expression and intracellular membrane association.

The Journal of biological chemistry·2000

Area of Science:

  • Developmental Biology
  • Genetics
  • Medical Genetics

Background:

  • VACTERL association is a complex congenital anomaly with unknown causes.
  • Sonic hedgehog (Shh) signaling is vital for embryonic development.
  • Gli genes encode transcription factors mediating Shh signaling.

Purpose of the Study:

  • To explore the role of Gli transcription factors in Shh signaling and mammalian development.
  • To investigate the potential link between defective Shh signaling and VACTERL association.
  • To establish Gli mutant mice as models for VACTERL pathogenesis.

Main Methods:

  • Analysis of Gli gene mutants in mice.
  • Observation of developmental anomalies in Gli mutant mice.
  • Review of Shh signaling pathways and their role in embryogenesis.

Related Experiment Videos

Main Results:

  • Gli gene mutations result in developmental anomalies mirroring VACTERL features in mice.
  • Defective Shh signaling is implicated in the observed spectrum of congenital defects.
  • Gli mutant mice exhibit phenotypes similar to human VACTERL cases.

Conclusions:

  • Defective Shh signaling during embryogenesis may cause VACTERL association in humans.
  • Gli mutant mice provide valuable models for understanding VACTERL pathogenesis.
  • Further research into Shh pathway in VACTERL is warranted.