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- W2090858916 abstract "The multi-subunit protein complex, cohesin, is responsible for sister chromatid cohesion during cell division. The interaction of cohesin with DNA is controlled by a number of additional regulatory proteins. Mutations in cohesin, or its regulators, cause a spectrum of human developmental syndromes known as the cohesinopathies. Cohesinopathy disorders include Cornelia de Lange Syndrome and Roberts Syndrome. The discovery of novel roles for chromatid cohesion proteins in regulating gene expression led to the idea that cohesinopathies are caused by dysregulation of multiple genes downstream of mutations in cohesion proteins. Consistent with this idea, Drosophila, mouse, and zebrafish cohesinopathy models all show altered expression of developmental genes. However, there appears to be incomplete overlap among dysregulated genes downstream of mutations in different components of the cohesion apparatus. This is surprising because mutations in all cohesion proteins would be predicted to affect cohesin's roles in cell division and gene expression in similar ways. Here we review the differences and similarities between genetic pathways downstream of components of the cohesion apparatus, and discuss how such differences might arise, and contribute to the spectrum of cohesinopathy disorders. We propose that mutations in different elements of the cohesion apparatus have distinct developmental outcomes that can be explained by sometimes subtly different molecular effects." @default.
- W2090858916 created "2016-06-24" @default.
- W2090858916 creator A5063404487 @default.
- W2090858916 creator A5079814428 @default.
- W2090858916 creator A5082038487 @default.
- W2090858916 date "2012-01-01" @default.
- W2090858916 modified "2023-10-16" @default.
- W2090858916 title "Diverse Developmental Disorders from The One Ring: Distinct Molecular Pathways Underlie the Cohesinopathies" @default.
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