Trimborn, M., Schindler, D., Neitzel, H., Hirano, T. (2006) Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell Cycle, 5 (3). pp. 322-326. ISSN 15384101
Abstract
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by marked reduction in brain size and mental retardation. Mutations in the gene MCPH1, encoding microcephalin, cause MCPH and a unique cellular phenotype with premature chromosome condensation in early G2 phase and delayed decondensation post mitosis. Here, we show that in MCPH1 patient cells, siRNA-mediated depletions of condensin II subunits lead to a pronounced reduction of cells with the condensation defects in both G 1 and G2 phases of the cell cycle. Similar results are obtained when microcephalin and condensin II are simultaneously depleted in HeLa cells. In contrast, depletions of condensin I subunits do not reverse the cellular phenotype. Consistently, condensin I stays in the cytoplasm in the prophase-like cells of MCPH1 patients. Our results offer a molecular explanation for the aberrant chromosome condensation in MCPH1-deficiency and provide additional evidence that condensin I and II are regulated by distinct pathways. ©2006 Landes Bioscience.
| Item Type: | Paper |
|---|---|
| Subjects: | diseases & disorders > congenital hereditary genetic diseases > Microencephaly bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > siRNA |
| CSHL Authors: | |
| Communities: | CSHL labs > Hirano lab |
| Depositing User: | CSHL Librarian |
| Date: | 2006 |
| Date Deposited: | 08 Dec 2011 18:50 |
| Last Modified: | 27 Apr 2018 19:34 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/22916 |
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