6 - Effects of Aneuploidy on Genome Structure, Expression,...

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Effects of Aneuploidy on Genome Structure, Expression, and Interphase Organization in Arabidopsis thaliana Bruno Huettel 1 . ¤ , David P. Kreil 2 . , Marjori Matzke 1 * , Antonius J. M. Matzke 1 1 Gregor Mendel Institute of Molecular Plant Biology, Austrian Academy of Sciences, Vienna, Austria, 2 Chair of Bioinformatics, Boku University Vienna, Vienna, Austria Abstract Aneuploidy refers to losses and/or gains of individual chromosomes from the normal chromosome set. The resulting gene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndrome in humans, and by human solid tumor cells, which are highly aneuploid. Although the phenotypic manifestations of aneuploidy are usually apparent, information about the underlying alterations in structure, expression, and interphase organization of unbalanced chromosome sets is still sparse. Plants generally tolerate aneuploidy better than animals, and, through colchicine treatment and breeding strategies, it is possible to obtain inbred sibling plants with different numbers of chromosomes. This possibility, combined with the genetic and genomics tools available for Arabidopsis thaliana , provides a powerful means to assess systematically the molecular and cytological consequences of aberrant numbers of specific chromosomes. Here, we report on the generation of Arabidopsis plants in which chromosome 5 is present in triplicate. We compare the global transcript profiles of normal diploids and chromosome 5 trisomics, and assess genome integrity using array comparative genome hybridization. We use live cell imaging to determine the interphase 3D arrangement of transgene-encoded fluorescent tags on chromosome 5 in trisomic and triploid plants. The results indicate that trisomy 5 disrupts gene expression throughout the genome and supports the production and/or retention of truncated copies of chromosome 5. Although trisomy 5 does not grossly distort the interphase arrangement of fluorescent-tagged sites on chromosome 5, it may somewhat enhance associations between transgene alleles. Our analysis reveals the complex genomic changes that can occur in aneuploids and underscores the importance of using multiple experimental approaches to investigate how chromosome numerical changes condition abnormal phenotypes and progressive genome instability. Citation: Huettel B, Kreil DP, Matzke M, Matzke AJM (2008) Effects of Aneuploidy on Genome Structure, Expression, and Interphase Organization in Arabidopsis thaliana . PLoS Genet 4(10): e1000226. doi:10.1371/journal.pgen.1000226 Editor: Joseph R. Ecker, The Salk Institute for Biological Studies, United States of America Received February 13, 2008; Accepted September 15, 2008; Published October 17, 2008 Copyright: ß 2008 Huettel et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding:
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6 - Effects of Aneuploidy on Genome Structure, Expression,...

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