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Cyclin-dependent kinases and rare developmental disorders

Authors
  • Colas, Pierre1
  • 1 Sorbonne Université / CNRS, Roscoff, France , Roscoff (France)
Type
Published Article
Journal
Orphanet Journal of Rare Diseases
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Aug 06, 2020
Volume
15
Issue
1
Identifiers
DOI: 10.1186/s13023-020-01472-y
Source
Springer Nature
Keywords
License
Green

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.

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