PerspectiveGenetics

Genetics Driving Epigenetics

Science  08 Nov 2013:
Vol. 342, Issue 6159, pp. 705-706
DOI: 10.1126/science.1246755

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Summary

Humans vary according to a plethora of traits, such as height, hair color, behavior, and susceptibility to disease. Both genetics (nature) and environment (nurture) contribute to this variation. Recent large-scale genetic studies have identified thousands of specific DNA variations in the human population that are associated with different traits. However, these studies do not answer a key question: By what means do most DNA variants alter cellular behavior and contribute to differences in specific traits, such as height? A trio of papers in this issue by Kasowski et al. on page 750 (1), Kilpinen et al. on page 744 (2), and McVicker et al. on page 747 (3) provide a framework for exploring the mechanistic link between genetic and trait variation in the human population. Specifically, they find that DNA variants influence a layer of gene regulation called epigenetics through the sequence-specific activity of transcription factors.