Cohesinopathy mutations disrupt the subnuclear organization of chromatin

By Scarlett Gard, W. Light, Bo Xiong, Tania Bose, Adrian J. McNairn, Bethany Harris, Brian Fleharty, C. Seidel, Jason H. Brickner, J. Gerton. Journal of Cell Biology, 2009

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chromosome organization transcriptional regulation. A in Smc1 in the of a heterochromatin boundary element at the silent mating in budding Mutations in Scc2/Nipped-B, a subunit of the cohesin complex, result in defects in long-range promoter–enhancer interactions in Drosophila melanogaster 1999). A mutation in the Mcd1 cohesin subunit leads to defects in cohesion, chromosome condensation, and nucleolar morphology (Guacci 1997). However, it is unclear whether these phenotypes reflect a direct role for cohesin in chromatin folding and organization or result from indirect effects of the cohesion defect.

Subfields: Molecular Biology

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