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dc.contributor.authorSubramanian, Sankar
dc.contributor.authorKumar, Sudhir
dc.date.accessioned2017-05-03T13:47:24Z
dc.date.available2017-05-03T13:47:24Z
dc.date.issued2003
dc.identifier.issn10889051
dc.identifier.doi10.1101/gr.1152803
dc.identifier.urihttp://hdl.handle.net/10072/32096
dc.description.abstractPoint mutation rates in exons (synonymous sites) and noncoding (introns and intergenic) regions are generally assumed to be the same.However, comparative sequence analyses of synonymous substitutions in exons (81 genes) and that of long intergenic fragments (141.3 kbp) of human and chimpanzee genomes reveal a 30%-60% higher mutation rate in exons than in noncoding DNA.We propose a differential CpG content hypothesis to explain this fundamental, and seemingly unintuitive, pattern.We find that the increased exonic rate is the result of the relative overabundance of synonymous sites involved in CpG dinucleotides, as the evolutionary divergence in non-CpG sites is similar in noncoding DNA and synonymous sites of exons.Expectations and predictions of our hypothesis are confirmed in comparisons involving more distantly related species, including human-orangutan, human-baboon, and human-macaque.Our results suggest an underlying mechanism for higher mutation rate in GC-rich genomic regions, predict nonlinear accumulation of mutations in pseudogenes over time, and provide a possible explanation for the observed higher diversity of single nucleotide polymorphisms (SNPs) in the synonymous sites of exons compared to the noncoding regions.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherCold Spring Harbor Laboratory Press
dc.publisher.placeUnited States
dc.relation.ispartofpagefrom838
dc.relation.ispartofpageto844
dc.relation.ispartofissue5
dc.relation.ispartofjournalGenome Research
dc.relation.ispartofvolume13
dc.subject.fieldofresearchGenomics
dc.subject.fieldofresearchBiological Sciences
dc.subject.fieldofresearchMedical and Health Sciences
dc.subject.fieldofresearchcode060408
dc.subject.fieldofresearchcode06
dc.subject.fieldofresearchcode11
dc.titleNeutral Substitutions Occur at a Faster Rate in Exons Than in Noncoding DNA in Primate Genomes
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.date.issued2015-05-12T05:11:54Z
gro.hasfulltextNo Full Text
gro.griffith.authorSankarasubramanian, Sankar


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