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Evolutionary history of regulatory variation in human populations

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Published in Human Molecular Genetics. 2010, vol. 19, no. R2, p. R197-203
Abstract Genetic variation in the regulation of gene expression is likely to be a major contributor to phenotypic variation in humans, and it also constitutes an important target of recent natural selection in human populations and plays a major role in morphological evolution. The increasing amount of data of genome and transcriptome variation is now leading to a better annotation of regulatory elements and a growing understanding of how the evolution of gene regulation has shaped human diversity. In this review, we discuss the evolutionary history of the variation in the expression of protein-coding genes in humans. We outline the current methodology for mapping regulatory variants and their distribution in human populations. General mechanisms of regulatory evolution are discussed with a special emphasis on different selective processes targeting gene regulation in humans.
Keywords *Evolution, MolecularGenetic Variation/*geneticsHumans
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PMID: 20876617
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Other version: http://hmg.oxfordjournals.org/content/19/R2/R197.full.pdf
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Research group Population Genomics and Genetics of Complex Traits (892)
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LAPPALAINEN, Tuuli Emilia, DERMITZAKIS, Emmanouil. Evolutionary history of regulatory variation in human populations. In: Human Molecular Genetics, 2010, vol. 19, n° R2, p. R197-203. https://archive-ouverte.unige.ch/unige:21071

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Deposited on : 2012-05-23

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