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Scientific article
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Evolutionary history of regulatory variation in human populations

Published inHuman molecular genetics, vol. 19, no. R2, p. R197-203
Publication date2010
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, Molecular
  • Genetic Variation/*genetics
  • Humans
Citation (ISO format)
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. doi: 10.1093/hmg/ddq406
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ISSN of the journal0964-6906
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