ArticlePloS one2008
Genome-wide analysis of natural selection on human cis-elements.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 24 citations in OpenAlex.
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- Genetic polymorphisms of metabolic enzymes and the pharmacokinetics of indapamide in Taiwanese subjects.The AAPS journal · 2014Article
- Functional evolution of cis-regulatory modules of STMADS11 superclade MADS-box genes.Plant molecular biology · 2013Article
- SNPing cancer in the bud: microRNA and microRNA-target site polymorphisms as diagnostic and prognostic biomarkers in cancer.Pharmacology & therapeutics · 2013Review
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- Fine-mapping and initial characterization of QT interval loci in African Americans.PLoS genetics · 2012Article
- Selection and constraint on regulatory elements in Drosophila simulans.Journal of molecular evolution · 2011Article
- Genome-wide survey of natural selection on functional, structural, and network properties of polymorphic sites in Saccharomyces paradoxus.Molecular biology and evolution · 2011Article
- Using human demographic history to infer natural selection reveals contrasting patterns on different families of immune genes.Proceedings. Biological sciences · 2011Article
- Evolutionary evidence of the effect of rare variants on disease etiology.Clinical genetics · 2011Review
- Predicting functionally important SNP classes based on negative selection.BMC bioinformatics · 2011Article
- Evolution of microRNAs and the diversification of species.Genome biology and evolution · 2011Article
- Genomic features of the human dopamine transporter gene and its potential epigenetic States: implications for phenotypic diversity.PloS one · 2010Article
- Homotypic clusters of transcription factor binding sites are a key component of human promoters and enhancers.Genome research · 2010Article
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- Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence.PLoS genetics · 2009Article
- Motifs and cis-regulatory modules mediating the expression of genes co-expressed in presynaptic neurons.Genome biology · 2009Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundIt has been speculated that the polymorphisms in the non-coding portion of the human genome underlie much of the phenotypic variability among humans and between humans and other primates. If so, these genomic regions may be undergoing rapid evolutionary change, due in part to natural selection. However, the non-coding region is a heterogeneous mix of functional and non-functional regions. Furthermore, the functional regions are comprised of a variety of different types of elements, each under potentially different selection regimes. FINDINGS AND
conclusionsUsing the HapMap and Perlegen polymorphism data that map to a stringent set of putative binding sites in human proximal promoters, we apply the Derived Allele Frequency distribution test of neutrality to provide evidence that many human-specific and primate-specific binding sites are likely evolving under positive selection. We also discuss inherent limitations of publicly available human SNP datasets that complicate the inference of selection pressures. Finally, we show that the genes whose proximal binding sites contain high frequency derived alleles are enriched for positive regulation of protein metabolism and developmental processes. Thus our genome-scale investigation provides evidence for positive selection on putative transcription factor binding sites in human proximal promoters.
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