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Journal article

De novo missense substitutions in the gene encoding CDK8, a regulator of the Mediator complex, cause a syndromic developmental disorder

Abstract:

The Mediator is an evolutionarily conserved, multi-subunit complex that regulates multiple steps of transcription. Mediator activity is regulated by the reversible association of a four-subunit module comprising CDK8 or CDK19 kinases, together with cyclin C, MED12 or MED12L, and MED13 or MED13L. Mutations in MED12, MED13, and MED13L were previously identified in syndromic developmental disorders with overlapping phenotypes. Here, we report CDK8 mutations (located at 13q12.13) that cause a phe...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.ajhg.2019.02.006

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
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Grant:
Investigator Award 102731
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Grant:
Accelerator Award C1362/A20263
Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
104
Issue:
4
Pages:
709-720
Publication date:
2019-03-21
Acceptance date:
2019-02-04
DOI:
ISSN:
0002-9297
Keywords:
Pubs id:
pubs:968850
UUID:
uuid:08a7d4d1-7bc4-40fc-bf7e-388a201d3697
Local pid:
pubs:968850
Deposit date:
2019-02-05

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