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| Subject Categories: Genome Stability & Dynamics | Genomic & Computational Biology |
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| The EMBO Journal
(2004) 23, 234–243, doi:10.1038/sj.emboj.7600024 Published online 18 December 2003 |
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| Eucaryotic genome evolution through the spontaneous duplication of large chromosomal segments |
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| Romain Koszul1, Sandrine Caburet2, 3, Bernard Dujon1 and Gilles Fischer1 |
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1 Unité de Génétique Moléculaire des Levures, Département de Structure et Dynamique des Génomes, Institut Pasteur, Paris, France 2 Unité de Stabilité des Génomes, Département de Structure et Dynamique des Génomes, Institut Pasteur, Paris, France To whom correspondence should be addressed Gilles Fischer, Unité de Génétique Moléculaire des Levures (CNRS URA2171, UFR927 Université Pierre et Marie Curie), Département de Structure et Dynamique des Génomes, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris cedex 15, France. Tel.: +33 1 4568 8507; Fax: +33 1 4061 3456; E-mail: fischer@pasteur.fr 3 Present address: INSERM U361/E0021 Hôpital Cochin, Pavillon Baudelocque, 123 bd de Port-Royal, 75014 Paris, France Received 5 August 2003; Accepted 3 November 2003; Published online 18 December 2003. |
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| Abstract |
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| There is growing evidence that duplications have played a major role in eucaryotic genome evolution. Sequencing data revealed the presence of large duplicated regions in the genomes of many eucaryotic organisms, and comparative studies have suggested that duplication of large DNA segments has been a continuing process during evolution. However, little experimental data have been produced regarding this issue. Using a gene dosage assay for growth recovery in Saccharomyces cerevisiae, we demonstrate that a majority of the revertant strains (58%) resulted from the spontaneous duplication of large DNA segments, either intra- or interchromosomally, ranging from 41 to 655 kb in size. These events result in the concomitant duplication of dozens of genes and in some cases in the formation of chimeric open reading frames at the junction of the duplicated blocks. The types of sequences at the breakpoints as well as their superposition with the replication map suggest that spontaneous large segmental duplications result from replication accidents. Aneuploidization events or suppressor mutations that do not involve large-scale rearrangements accounted for the rest of the reversion events (in 26 and 16% of the strains, respectively). |
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| Keywords: gene dosage recovery, replication, segmental duplication, yeast |
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Top of page MORE ARTICLES LIKE THISThese links to content published by NPG are automatically generated RESEARCHEuropean Journal of Human Genetics Article Response European Journal of Human Genetics Article Response DNA sequence and analysis of human chromosome 9 Nature Article (27 May 2004) The sequence and analysis of duplication-rich human chromosome 16 Nature Article (23 Dec 2004) |
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