ArticleGenome research2010
Massive turnover of functional sequence in human and other mammalian genomes.
Article in Genome research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
65 citing papers in PubMed.
- Pervasive cryptic selection in the human noncoding genome.bioRxiv : the preprint server for biology · 2026Article
- The performance of genetic-constraint metrics varies significantly across the human noncoding genome.bioRxiv : the preprint server for biology · 2026Article
- In silico prediction of variant effects: promises and limitations for precision plant breeding.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2025Review
- The landscape of fitness effects of putatively functional noncoding mutations in humans.bioRxiv : the preprint server for biology · 2025Article
- The regulatory landscape of interacting RNA and protein pools in cellular homeostasis and cancer.Human genomics · 2024Review
- A quantitative genetic model of background selection in humans.PLoS genetics · 2024Article
- The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation.Genome biology · 2022Article
- A review on interplay between small RNAs and oxidative stress in cancer progression.Molecular and cellular biochemistry · 2021Review
- The rate and molecular spectrum of mutation are selectively maintained in yeast.Nature communications · 2021Article
- Population genetic models of GERP scores suggest pervasive turnover of constrained sites across mammalian evolution.PLoS genetics · 2020Article
- Mutational Load and the Functional Fraction of the Human Genome.Genome biology and evolution · 2020Article
- RepeatFiller newly identifies megabases of aligning repetitive sequences and improves annotations of conserved non-exonic elements.GigaScience · 2019Article
- The Role of Phylogenetically Conserved Elements in Shaping Patterns of Human Genomic Diversity.Molecular biology and evolution · 2018Article
- ChIP-ping the branches of the tree: functional genomics and the evolution of eukaryotic gene regulation.Briefings in functional genomics · 2018Review
- Cancer cell line specific co-factors modulate the FOXM1 cistrome.Oncotarget · 2017Article
- Genome-wide use of high- and low-affinity Tbrain transcription factor binding sites during echinoderm development.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data.Nature genetics · 2017Article
- In silico phylogenomics using complete genomes: a case study on the evolution of hominoids.Genome research · 2016Article
- Conserved Noncoding Elements in the Most Distant Genera of Cephalochordates: The Goldilocks Principle.Genome biology and evolution · 2016Article
- Determining the Effect of Natural Selection on Linked Neutral Divergence across Species.PLoS genetics · 2016Article
5 more citing papers are in PubMed but not listed here.
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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Despite the availability of dozens of animal genome sequences, two key questions remain unanswered: First, what fraction of any species' genome confers biological function, and second, are apparent differences in organismal complexity reflected in an objective measure of genomic complexity? Here, we address both questions by applying, across the mammalian phylogeny, an evolutionary model that estimates the amount of functional DNA that is shared between two species' genomes. Our main findings are, first, that as the divergence between mammalian species increases, the predicted amount of pairwise shared functional sequence drops off dramatically. We show by simulations that this is not an artifact of the method, but rather indicates that functional (and mostly noncoding) sequence is turning over at a very high rate. We estimate that between 200 and 300 Mb (∼6.5%-10%) of the human genome is under functional constraint, which includes five to eight times as many constrained noncoding bases than bases that code for protein. In contrast, in D. melanogaster we estimate only 56-66 Mb to be constrained, implying a ratio of noncoding to coding constrained bases of about 2. This suggests that, rather than genome size or protein-coding gene complement, it is the number of functional bases that might best mirror our naïve preconceptions of organismal complexity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.