ArticleProceedings of the National Academy of Sciences of the United States of America2003
Functional constraints and frequency of deleterious mutations in noncoding DNA of rodents.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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54 citing papers in PubMed, 112 citations in OpenAlex.
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- Transcriptional regulation of genes bearing intronic heterochromatin in the rice genome.PLoS genetics · 2020Article
- Removal of alleles by genome editing (RAGE) against deleterious load.Genetics, selection, evolution : GSE · 2019Article
- Evidence for widespread positive and negative selection in coding and conserved noncoding regions of Capsella grandiflora.PLoS genetics · 2014Article
- Conservation in first introns is positively associated with the number of exons within genes and the presence of regulatory epigenetic signals.BMC genomics · 2014Article
- Selection on synonymous codons in mammalian rhodopsins: a possible role in optimizing translational processes.BMC evolutionary biology · 2014Article
- Genome-wide analyses of a plant-specific LIM-domain gene family implicate its evolutionary role in plant diversification.Genome biology and evolution · 2014Article
- Genome-wide analysis in chicken reveals that local levels of genetic diversity are mainly governed by the rate of recombination.BMC genomics · 2013Article
- Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity.Nucleic acids research · 2013Review
- The evolution of intron size in amniotes: a role for powered flight?Genome biology and evolution · 2012Article
- Divergence in cis-regulatory sequences surrounding the opsin gene arrays of African cichlid fishes.BMC evolutionary biology · 2011Article
- Spliceosomal intron size expansion in domesticated grapevine (Vitis vinifera).BMC research notes · 2011Article
- Significant selective constraint at 4-fold degenerate sites in the avian genome and its consequence for detection of positive selection.Genome biology and evolution · 2011Article
- Late replicating domains are highly recombining in females but have low male recombination rates: implications for isochore evolution.PloS one · 2011Article
- Shifts in the intensity of purifying selection: an analysis of genome-wide polymorphism data from two closely related yeast species.Genome research · 2010Article
- The complete sequence of the smallest known nuclear genome from the microsporidian Encephalitozoon intestinalis.Nature communications · 2010Article
- The mutational spectrum of non-CpG DNA varies with CpG content.Genome research · 2010Article
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2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Selection against deleterious mutations imposes a mutation load on populations because individuals die or fail to reproduce. In vertebrates, estimates of genomic rates of deleterious mutations in protein-coding genes imply the existence of a substantial mutation load, but many functionally important regions of the genome are thought to reside in noncoding DNA, and the contribution of noncoding DNA to the mutation load has been unresolved. Here, we infer the frequency of deleterious mutations in noncoding DNA of rodents by comparing rates of substitution at noncoding nucleotides with rates of substitution at the fastest evolving intronic sites of adjacent genes sampled from the whole genome sequences of mouse and rat. We show that the major elements of selectively constrained noncoding DNA are within 2,500 bp upstream and downstream of coding sequences and in first introns. Our estimate of the genomic deleterious point mutation rate for noncoding DNA (0.22 per diploid per generation) is similar to that for coding DNA. Mammalian populations therefore experience a substantial genetic load associated with selection against deleterious mutations in noncoding DNA. Deleterious mutations in noncoding DNA have predominantly quantitative effects and could be an important source of the burden of complex genetic disease variation in human populations.
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