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Hedgehog signaling and human disease
1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA. allen.bale@yale.edu
Annual Review of Genomics and Human Genetics
|July 27, 2002
Summary
The conserved hedgehog pathway, crucial in fruit fly development, is vital for human embryogenesis. Its disruption causes birth defects, while its overactivation leads to cancers.
Area of Science:
- Developmental Biology
- Genetics
- Human Embryogenesis
Background:
- The hedgehog pathway was initially identified in Drosophila melanogaster.
- This pathway is conserved across species, including vertebrates.
- It plays a critical role in human embryonic development.
Purpose of the Study:
- To highlight the conserved nature of the hedgehog pathway from fruit flies to humans.
- To underscore the pathway's role in both development and disease.
Main Methods:
- Genetic studies in Drosophila melanogaster.
- Comparative analysis of developmental pathways in vertebrates.
- Examination of hedgehog pathway involvement in human congenital anomalies and malignancies.
Main Results:
- The hedgehog pathway is essential for normal human embryogenesis.
- Disruption of this pathway leads to congenital anomalies affecting the central nervous system, skeleton, and limbs.
- Aberrant activation of the hedgehog pathway is linked to various cancers, including skin cancer.
Conclusions:
- The hedgehog pathway is a fundamental developmental signaling pathway with conserved functions.
- Dysregulation of the hedgehog pathway has significant implications for human health, causing developmental disorders and cancer.