Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II

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

URL: https://www.ncbi.nlm.nih.gov/pubmed/16434882
DOI: 10.4161/cc.5.3.2412

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: http://repository.cshl.edu/id/eprint/22916

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