ArticleMolecular genetics & genomic medicine2021
Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 5 citations in OpenAlex.
- Cyclin-dependent kinase 10 controls bone formation and is linked to human skeletal health.Journal of orthopaedic translation · 2026Article
- Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders.Molecular genetics & genomic medicine · 2021Article
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3 authors at 1 institution in 1 country.
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Abstract
backgroundCDK10 is a poorly known cyclin M (CycM)-dependent kinase. Loss-of-function mutations in the genes encoding CycM or CDK10 cause, respectively, STAR or Al Kaissi syndromes, which present a constellation of malformations and dysfunctions. Most reported mutations abolish gene expression, but two mutations found in 3' exons could allow the expression of CDK10 and CycM truncated variants.
methodsWe built a structural model that predicted a preserved ability of both variants to form a CDK10/CycM heterodimer. Hence, we functionally characterized these two truncated variants by determining their capacity to heterodimerize and form an active protein kinase when expressed in insect cells, by examining their two-hybrid interaction profiles when expressed in yeast, and by observing their expression level and stability when expressed in human cells.
resultsBoth truncated variants retain their ability to form a CDK10/CycM heterodimer. While the CycM variant partially activates CDK10 activity in vitro, the CDK10 variant remains surprisingly inactive. Expression in human cells revealed that the CDK10 and CycM variants are strongly and partially degraded by the proteasome, respectively.
conclusionOur results point to a total loss of CDK10/CycM activity in the Al Kaissi patient and a partial loss in the STAR patients.
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