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MBE Advance Access published online on August 29, 2007
Molecular Biology and Evolution, doi:10.1093/molbev/msm181
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© The Author 2007. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

Alu and LINE1 Distributions in the Human Chromosomes: Evidence of Global Genomic Organization Expressed in the Form of Power Laws

Diamantis Sellis1, Astero Provata2 and Yannis Almirantis1,*

1 National Center for Scientific Research "Demokritos", Institute of Biology, 153 10 Athens, Greece
2 National Center for Scientific Research "Demokritos", Institute of Physical Chemistry, 153 10 Athens, Greece

* e-mail address: yalmir{at}bio.demokritos.gr tel: +302106503619 FAX: +302106511767

Received for publication April 27, 2007. Revision received July 17, 2007. Accepted for publication August 9, 2007.

Spatial distribution and clustering of repetitive elements are extensively studied during the last years, as well as their co-localization with other genomic components. Here we investigate the large-scale features of Alu and LINE1 spatial arrangement in the human genome, by studying the size distribution of inter-repeat distances. In most cases, we have found power law size distributions, extending in several orders of magnitude. We have also studied the correlations of the extent of the power law (linear region in double logarithmic scale) and of the corresponding exponent (slope) with other genomic properties. A model has been formulated to explain the formation of the observed power laws. According to the model, two kinds of events occur repetitively in evolutionary time: random insertion of several types of intruding sequences and occasional loss of repeats belonging to the initial population due to "elimination" events. This simple mechanism is shown to reproduce the observed power law size distributions and is compatible with our present knowledge on the dynamics of repeat proliferation in the genome.

Key Words: Alu • LINE1 • power laws • repeat distributions


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