{"doi":"10.7554/elife.24284","title":"Rapid evolution of the human mutation spectrum","abstract":"<jats:p>\n                    DNA is a remarkably precise medium for copying and storing biological information. This high fidelity results from the action of hundreds of genes involved in replication, proofreading, and damage repair. Evolutionary theory suggests that in such a system, selection has limited ability to remove genetic variants that change mutation rates by small amounts or in specific sequence contexts. Consistent with this, using SNV variation as a proxy for mutational input, we report here that mutational spectra differ substantially among species, human continental groups and even some closely related populations. Close examination of one signal, an increased TCC\n                    <mml:math xmlns:mml=\"http://www.w3.org/1998/Math/MathML\">\n                      <mml:mstyle>\n                        <mml:mrow>\n                          <mml:mo>→</mml:mo>\n                        </mml:mrow>\n                      </mml:mstyle>\n                    </mml:math>\n                    TTC mutation rate in Europeans, indicates a burst of mutations from about 15,000 to 2000 years ago, perhaps due to the appearance, drift, and ultimate elimination of a genetic modifier of mutation rate. Our results suggest that mutation rates can evolve markedly over short evolutionary timescales and suggest the possibility of mapping mutational modifiers.\n                  </jats:p>","journal":"eLife","year":2017,"id":31041,"datarank":6.611049879625298,"base_score":5.342334251964811,"endowment":5.342334251964811,"self_citation_contribution":0.8013501377947218,"citation_network_contribution":5.809699741830577,"self_endowment_contribution":0.8013501377947218,"citer_contribution":5.809699741830577,"corpus_percentile":null,"corpus_rank":null,"citation_count":208,"citer_count":186,"citers_with_citation_signal":151,"citers_with_endowment":151,"datacite_reuse_total":4,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":116781,"name":"Jonathan K Pritchard","orcid":null,"position":1,"is_corresponding":false},{"id":55038,"name":"Kelley Harris","orcid":"0000-0003-0302-2523","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":5.342334251964811,"endowment":5.342334251964811,"datacite_reuse_total":4,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"28440220","pmcid":"PMC5435464","openalex_id":"https://openalex.org/W2544062746","authors":[],"funders":[{"funder_name":"National Institutes of Health","grant_id":"NRSA-F32 Grant GM116381","title":null},{"funder_name":"Howard Hughes Medical Institute","grant_id":"Investigator Grant","title":null},{"funder_name":"National Institutes of Health","grant_id":"R01 Grant HG008140","title":null},{"funder_name":"NIGMS NIH HHS","grant_id":"F32 GM116381","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"R01 HG008140","title":null},{"funder_name":"National Institutes of Health","grant_id":"3F32GM116381-02S1","title":"Tracing the evolution of the human mutation rate"},{"funder_name":"National Institutes of Health","grant_id":"5R01HG008140-05","title":"Integration of functional data and GWAS to elucidate genetic basis of diseases"}],"total_grants":7,"fwci":15.7367,"citation_percentile":0.99262131,"influential_citations":12,"citation_trend":[{"year":2016,"count":1},{"year":2017,"count":10},{"year":2018,"count":12},{"year":2019,"count":30},{"year":2020,"count":20},{"year":2021,"count":40},{"year":2022,"count":22},{"year":2023,"count":25},{"year":2024,"count":17},{"year":2025,"count":25},{"year":2026,"count":6}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.7554/elife.24284","host_type":"journal"},{"url":"https://doi.org/10.7554/elife.24284","host_type":"GREEN"},{"url":"https://doi.org/10.7554/elife.24284","host_type":"publisher"},{"url":"https://cdn.elifesciences.org/articles/24284/elife-24284-v2.pdf","host_type":"publisher"},{"url":"https://cdn.elifesciences.org/articles/24284/elife-24284-v2.xml","host_type":"publisher"},{"url":"https://elifesciences.org/articles/24284","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/28440220","host_type":"repository"},{"url":"https://doaj.org/article/899c237035854f94a1f8f16e9c5f6a24","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5435464","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC5435464","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC5435464?pdf=render","host_type":"Europe_PMC"},{"url":"https://doi.org/10.1101/084343","host_type":""},{"url":"http://dx.doi.org/10.7554/eLife.24284","host_type":""},{"url":"https://dx.doi.org/10.7554/elife.24284","host_type":""},{"url":"https://dx.doi.org/10.1101/084343","host_type":""},{"url":"http://dx.doi.org/10.1101/084343","host_type":""}],"fields_of_study":["Evolution and Genetic Dynamics","Genomics and Phylogenetic Studies","Cancer Genomics and Diagnostics","Biology","Medicine","0301 basic medicine","0303 health sciences","03 medical and health sciences","Biological Evolution","Humans","Mutation Rate","Racial Groups"],"mesh_terms":["Biological Evolution","Humans","Racial Groups","Mutation Rate"],"keywords":["Mutation rate","Proofreading","Biology","Genetics","Mutation","Mutation Accumulation","Neutral mutation","Evolutionary biology","Human evolution","Gene","DNA replication","Computational biology","DNA polymerase","Human","Population genetics","Mutagenesis","Genomics","Dna Replication And Repair","Mutational Signatures","Human Population Structure","Great Ape Evolution","QH301-705.5","Science","Q","Racial Groups","R","Biological Evolution","Genomics and Evolutionary Biology","Medicine","Humans","Biology (General)"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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