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Esco2 and cohesin regulate CRL4 ubiquitin ligase ddb1 expression and thalidomide teratogenicity

UID: 19
Author(s): M. Kathryn Iovine, Robert Skibbens*
* Corresponding Author
Description
Cornelia de Lange syndrome (CdLS) and Roberts syndrome (RBS) are severe developmental maladies that arise from mutation of cohesin (including SMC3, CdLS) and ESCO2 (RBS). Though ESCO2 activates cohesin, CdLS and RBS etiologies are currently considered non-synonymous and for which pharmacological treatments are unavailable. Here, we identify a unifying mechanism that integrates these genetic maladies to pharmacologically-induced teratogenicity via thalidomide. Our results reveal that Esco2 and cohesin co-regulate the transcription of a component of CRL4 ubiquitin ligase through which thalidomide exerts teratogenic effects. These findings are the first to link RBS and CdLS to thalidomide teratogenicity and offer new insights into treatments.
Local Expert
Robert Skibbens
Subject of Study
Human
Subject Domain
Abnormalities, Human
Congenital Abnormalities
CRL4 E3 ubiquitin ligase complex, human
De Lange Syndrome
Roberts Syndrome
Thalidomide
Keywords
birth defects
cohesinopathies
cornelia de lange syndrome (Cdls)
CRL4 ubiquitin ligase
Roberts syndrome (RBS)

Access

Restrictions
Free to All
Instructions
Freely available at figshare.
Associated Publications
Sanchez, A. C., Thren, E. D., Iovine, M. K., & Skibbens, R. V. (2022). Esco2 and cohesin regulate CRL4 ubiquitin ligase ddb1 expression and thalidomide teratogenicity. Cell Cycle, 21(5), 501–513.
PubMed Search
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Dataset Format(s)
TIFF
Grant Support
Faculty Research Grant/Lehigh University
Nemes Graduate Student Research Fellowship/Lehigh University
R15GM110631-02A1/National Institutes of Health