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Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
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Genes and molecular pathways underpinning ciliopathies.
Jeremy F Reiter1, Michel R Leroux2
1Department of Biochemistry and Biophysics and Cardiovascular Research Institute, University of California, San Francisco, San Francisco CA 94158, USA.
Nature Reviews. Molecular Cell Biology
|July 13, 2017
Summary
Cilia dysfunction causes increasing ciliopathies, with new genes and proteins identified. Research reveals cilia
Area of Science:
- Cell Biology
- Genetics
- Human Health
Background:
- Cilia, essential cellular organelles, are involved in various biological processes.
- Cilia dysfunction leads to a growing number of human diseases known as ciliopathies.
- The number of identified ciliopathy-associated genes and proteins is rapidly expanding.
Purpose of the Study:
- To review current knowledge on ciliopathies and associated genes/proteins.
- To elucidate the role of cilia in fundamental biological mechanisms.
- To understand the molecular basis of ciliogenesis, ciliary gating, and intraflagellar transport.
Main Methods:
- Comprehensive literature review of basic biological and clinical studies.
- Analysis of established and candidate ciliopathy-associated genes and proteins.
- Categorization of proteins within ciliary structures and ciliopathy subclasses.
Main Results:
- Characterization of 35 reported ciliopathies, 187 established, and 241 candidate genes.
- Improved understanding of basal body function in ciliogenesis.
- Insights into transition zone function in ciliary gating and intraflagellar transport mechanisms.
Conclusions:
- Investigating ciliopathies enhances understanding of ciliary functions and molecular mechanisms.
- Ongoing research continues to uncover novel ciliopathies and their associated ciliary proteins.
- Ciliary protein assignment provides crucial insights into organelle assembly, compartmentalization, and function.
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