Segmenting the Human Genome into Isochores

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Segmenting the Human Genome into Isochores

The human genome is a mosaic of isochores, which are long (>200 kb) DNA sequences that are fairly homogeneous in base composition and can be assigned to five families comprising 33%-59% of GC composition. Although the compartmentalized organization of the mammalian genome has been investigated for more than 40 years, no satisfactory automatic procedure for segmenting the genome into isochores i...

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The short-sequence designs of isochores from the human genome.

The human genome, a typical mammalian genome, is made up of long (approximately 1-Mb, on average) regions, the isochores, that are fairly homogeneous in base composition and belong in five families characterized by different GC levels. An analysis of di- and tri-nucleotide densities in the isochores from the five families has shown large differences. These different "short-sequence designs:" (i...

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High-level organization of isochores into gigantic superstructures in the human genome.

Human DNA shows a complex structure with compositional features at many scales; the isochores--long DNA segments (~10⁵ bp) of relatively homogeneous guanine-cytosine (G + C) content--are the largest well-documented and well-analyzed compositional structures. However, we report here on the existence of a high-level compositional organization of isochores in the human genome. By using a segmentat...

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GC composition of the human genome: in search of isochores.

The isochore theory, proposed nearly three decades ago, depicts the mammalian genome as a mosaic of long, fairly homogeneous genomic regions that are characterized by their guanine and cytosine (GC) content. The human genome, for instance, was claimed to consist of five distinct isochore families: L1, L2, H1, H2, and H3, with GC contents of <37%, 37%-42%, 42%-47%, 47%-52%, and >52%, respectivel...

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Isochores, GC3 and mutation biases in the human genome.

In this work we re-examined the hypothesis that the variation in GC content in the human genome is due to different regional mutational biases. For this purpose we inferred the mutational pattern by using mutation databases that are available for many genes associated with human genetic diseases. The assumption of this approach is that such mutations reflect the actual frequency distribution of...

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ژورنال

عنوان ژورنال: Evolutionary Bioinformatics

سال: 2015

ISSN: 1176-9343,1176-9343

DOI: 10.4137/ebo.s27693