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Updated: Dec 12, 2025
Identification of Cyclin-dependent Kinase 1 Specific Phosphorylation Sites by an In Vitro Kinase Assay
Published on: May 3, 2018
Cyclin-dependent kinases and rare developmental disorders
1Laboratory of Integrative Biology of Marine Models, Station Biologique de Roscoff, Sorbonne Université / CNRS, Roscoff, France. colas@sb-roscoff.fr.
Abstract:
Extensive studies in the past 30 years have established that cyclin-dependent kinases (CDKs) exert many diverse, important functions in a number of molecular and cellular processes that are at play during development. Not surprisingly, mutations affecting CDKs or their activating cyclin subunits have been involved in a variety of rare human developmental disorders. These recent findings are reviewed herein, giving a particular attention to the discovered mutations and their demonstrated or hypothesized functional consequences, which can account for pathological human phenotypes. The review highlights novel, important CDK or cyclin functions that were unveiled by their association with human disorders, and it discusses the shortcomings of mouse models to reveal some of these functions. It explains how human genetics can be used in combination with proteome-scale interaction databases to loom regulatory networks around CDKs and cyclins. Finally, it advocates the use of these networks to profile pathogenic CDK or cyclin variants, in order to gain knowledge on protein function and on pathogenic mechanisms.
Insights
Mutations in cyclin-dependent kinases (CDKs) and cyclins cause human developmental disorders, revealing new protein functions. Human genetics combined with network analysis can uncover pathogenic mechanisms.
Area of Science:
- Molecular Biology
- Developmental Biology
- Human Genetics
Background:
- Cyclin-dependent kinases (CDKs) and their cyclin partners are crucial for numerous molecular and cellular processes during development.
- Mutations in CDKs or cyclins are linked to various rare human developmental disorders.
Purpose of the Study:
- To review recent findings on mutations in CDKs and cyclins and their consequences in human developmental disorders.
- To highlight novel CDK and cyclin functions revealed by their association with human diseases.
- To discuss the limitations of mouse models and the utility of human genetics and network analysis.
Main Methods:
- Review of existing literature on CDK/cyclin mutations and developmental disorders.
- Analysis of functional consequences of mutations.
- Integration of human genetics with proteome-scale interaction databases to construct regulatory networks.
Main Results:
- Mutations in CDKs and cyclins contribute to human developmental disorders.
- Human disorders have unveiled previously unknown CDK and cyclin functions.
- Mouse models have limitations in revealing certain CDK/cyclin functions.
Conclusions:
- Human genetics and network analysis are powerful tools for understanding CDK/cyclin regulatory networks.
- Profiling pathogenic variants using these networks can elucidate protein function and disease mechanisms.
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