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Evidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions
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Evidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions
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Evidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions
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Journal Article
Evidence of Abundant Purifying Selection in Humans for Recently Acquired Regulatory Functions
2012
Overview
Although only 5% of the human genome is conserved across mammals, a substantially larger portion is biochemically active, raising the question of whether the additional elements evolve neutrally or confer a lineage-specific fitness advantage. To address this question, we integrate human variation information from the 1000 Genomes Project and activity data from the ENCODE Project. A broad range of transcribed and regulatory nonconserved elements show decreased human diversity, suggesting lineage-specific purifying selection. Conversely, conserved elements lacking activity show increased human diversity, suggesting that some recently became nonfunctional. Regulatory elements under human constraint in nonconserved regions were found near color vision and nerve-growth genes, consistent with purifying selection for recently evolved functions. Our results suggest continued turnover in regulatory regions, with at least an additional 4% of the human genome subject to lineage-specific constraint.
Publisher
American Association for the Advancement of Science,The American Association for the Advancement of Science
Subject
/ Analytical, structural and metabolic biochemistry
/ Biological and medical sciences
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genomes
/ Humans
/ Mammals
/ Molecular and cellular biology
/ Polymorphism, Single Nucleotide
/ Regulatory Sequences, Nucleic Acid - genetics
