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  • A further genome map

    resize10It has been almost six years since the publication of the reference sequence of the human genome. This enormous list of nucleotides, which should explain all human nature, it was assumed that varied only 0.1% between two individuals. However, this analysis focused on the SNP nucleotide variation of chromosomes and did not take into account the regions, or expansion deletion could not align properly with the tools then available.

    This approach has been rocked by the publication in Nature, by an international consortium of researchers (in which the group participates Xavier Estivill CRG), a work that uses a new technique for the detection of large regions of the genome associated with change by duplication, deletion, addition or expansion of the number of copies. This methodology, applied to the sequences of individuals from four different ethnic origins, has yielded 1447 of these regions, called copy number variants, which represent 12% of the genome and resulting differences of 0.5% between two individuals chosen at random.

    These data imply that at least 10% of coding genes lie within these variable regions and therefore could be affected in the number of copies thereof. We do not know how having one, two or twenty copies of a gene affect the phenotype observed, but the authors speculate that all this combination of extra variability may explain much of the differences in susceptibility to various complex diseases. It should also be noted that this technique allows consideration of regions of copy number variants of small or medium size (below 50 000 base pairs) and that will undoubtedly be another very important source of variation human genome.

    Published on December 20, 2012 · Filed under: Bioscience; Tagged as: , , , , ,
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