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ABSTRACT: Background
Several studies have shown that genomes can be studied via a multifractal formalism. Recently, we used a multifractal approach to study the genetic information content of the Caenorhabditis elegans genome. Here we investigate the possibility that the human genome shows a similar behavior to that observed in the nematode.Results
We report here multifractality in the human genome sequence. This behavior correlates strongly on the presence of Alu elements and to a lesser extent on CpG islands and (G+C) content. In contrast, no or low relationship was found for LINE, MIR, MER, LTRs elements and DNA regions poor in genetic information. Gene function, cluster of orthologous genes, metabolic pathways, and exons tended to increase their frequencies with ranges of multifractality and large gene families were located in genomic regions with varied multifractality. Additionally, a multifractal map and classification for human chromosomes are proposed.Conclusions
Based on these findings, we propose a descriptive non-linear model for the structure of the human genome, with some biological implications. This model reveals 1) a multifractal regionalization where many regions coexist that are far from equilibrium and 2) this non-linear organization has significant molecular and medical genetic implications for understanding the role of Alu elements in genome stability and structure of the human genome. Given the role of Alu sequences in gene regulation, genetic diseases, human genetic diversity, adaptation and phylogenetic analyses, these quantifications are especially useful.
SUBMITTER: Moreno PA
PROVIDER: S-EPMC3277318 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Moreno Pedro A PA Vélez Patricia E PE Martínez Ember E Garreta Luis E LE Díaz Néstor N Amador Siler S Tischer Irene I Gutiérrez José M JM Naik Ashwinikumar K AK Tobar Fabián F García Felipe F
BMC genomics 20111014
<h4>Background</h4>Several studies have shown that genomes can be studied via a multifractal formalism. Recently, we used a multifractal approach to study the genetic information content of the Caenorhabditis elegans genome. Here we investigate the possibility that the human genome shows a similar behavior to that observed in the nematode.<h4>Results</h4>We report here multifractality in the human genome sequence. This behavior correlates strongly on the presence of Alu elements and to a lesser ...[more]