{"doi":"10.1038/nature08802","title":"Heteroplasmic mitochondrial DNA mutations in normal and tumour cells","abstract":null,"journal":"Nature","year":2010,"id":588901,"datarank":15.091733235353718,"base_score":6.280395838960195,"endowment":6.280395838960195,"self_citation_contribution":0.9420593758440294,"citation_network_contribution":14.149673859509688,"self_endowment_contribution":0.9420593758440294,"citer_contribution":14.149673859509688,"corpus_percentile":null,"corpus_rank":null,"citation_count":533,"citer_count":200,"citers_with_citation_signal":200,"citers_with_endowment":200,"datacite_reuse_total":25,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":972867,"name":"Jian Wu","orcid":"0000-0002-1192-321X","position":1,"is_corresponding":false},{"id":1506707,"name":"Devin C. Dressman","orcid":null,"position":2,"is_corresponding":false},{"id":1506708,"name":"Christine Iacobuzio-Donahue","orcid":null,"position":3,"is_corresponding":false},{"id":2243,"name":"Sanford D. Markowitz","orcid":"0000-0001-5369-5254","position":4,"is_corresponding":false},{"id":2257,"name":"Victor E. Velculescu","orcid":"0000-0003-1195-438X","position":5,"is_corresponding":false},{"id":1506709,"name":"Luis A. Diaz Jr","orcid":null,"position":6,"is_corresponding":false},{"id":2256,"name":"Kenneth W. Kinzler","orcid":"0000-0001-5591-1176","position":7,"is_corresponding":false},{"id":2255,"name":"Bert Vogelstein","orcid":"0000-0003-0766-3854","position":8,"is_corresponding":false},{"id":2254,"name":"Nickolas Papadopoulos","orcid":"0000-0001-7135-7451","position":9,"is_corresponding":false},{"id":648185,"name":"Yiping He","orcid":"0000-0003-4669-6421","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Heteroplasmic mitochondrial DNA mutations in normal and tumour cells","abstract":"The presence of hundreds of copies of mitochondrial DNA (mtDNA) in each human cell poses a challenge for the complete characterization of mtDNA genomes by conventional sequencing technologies. Here we describe digital sequencing of mtDNA genomes with the use of massively parallel sequencing-by-synthesis approaches. Although the mtDNA of human cells is considered to be homogeneous, we found widespread heterogeneity (heteroplasmy) in the mtDNA of normal human cells. Moreover, the frequency of heteroplasmic variants varied considerably between different tissues in the same individual. In addition to the variants identified in normal tissues, cancer cells harboured further homoplasmic and heteroplasmic mutations that could also be detected in patient plasma. These studies provide insights into the nature and variability of mtDNA sequences and have implications for mitochondrial processes during embryogenesis, cancer biomarker development and forensic analysis. In particular, they demonstrate that individual humans are characterized by a complex mixture of related mitochondrial genotypes rather than a single genotype.","is_dataset_classified":null,"base_score":6.280395838960195,"endowment":6.280395838960195,"datacite_reuse_total":25,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"20200521","pmcid":"PMC3176451","openalex_id":"https://openalex.org/W2005520835","authors":[],"funders":[{"funder_name":"NCI NIH HHS","grant_id":"CA 43460","title":null},{"funder_name":"NCI NIH HHS","grant_id":"R01 CA057345","title":null},{"funder_name":"NCI NIH HHS","grant_id":"R37 CA043460","title":null},{"funder_name":"NCI NIH HHS","grant_id":"CA 62924","title":null},{"funder_name":"NCI NIH HHS","grant_id":"CA121113","title":null},{"funder_name":"NCI NIH HHS","grant_id":"P50 CA062924","title":null},{"funder_name":"NCI NIH HHS","grant_id":"R37 CA057345","title":null},{"funder_name":"NCI NIH HHS","grant_id":"CA57345","title":null},{"funder_name":"NCI NIH HHS","grant_id":"R01 CA121113","title":null},{"funder_name":"National Institutes of Health","grant_id":"5R37CA043460-22","title":"Molecular Genetic Analysis of Colorectal Cancer"},{"funder_name":"National Institutes of Health","grant_id":"5R37CA057345-18","title":"Genes from the FAP Locus"},{"funder_name":"National Institutes of Health","grant_id":"5R01CA121113-04","title":"Large-scale Genetic Analyses of Gene Families in Colorectal Cancer"},{"funder_name":"National Institutes of Health","grant_id":"5P50CA062924-25","title":"SPORE in Gastrointestinal Cancers"},{"funder_name":"Howard Hughes Medical Institute","grant_id":"","title":null},{"funder_name":"Howard Hughes Medical Institute","grant_id":"","title":null}],"total_grants":15,"fwci":20.659,"citation_percentile":0.99713907,"influential_citations":0,"citation_trend":[{"year":2012,"count":39},{"year":2013,"count":45},{"year":2014,"count":52},{"year":2015,"count":42},{"year":2016,"count":32},{"year":2017,"count":29},{"year":2018,"count":36},{"year":2019,"count":27},{"year":2020,"count":38},{"year":2021,"count":29},{"year":2022,"count":20},{"year":2023,"count":11},{"year":2024,"count":31},{"year":2025,"count":14},{"year":2026,"count":4}],"oa_status":"closed","license":"Springer TDM","oa_locations":[{"url":"http://www.nature.com/articles/nature08802.pdf","host_type":"publisher"},{"url":"http://www.nature.com/articles/nature08802","host_type":"publisher"},{"url":"https://doi.org/10.1038/nature08802","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/20200521","host_type":"repository"},{"url":"https://www.nature.com/articles/nature08802","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3176451","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC3176451","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC3176451?pdf=render","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/pmc3176451?pdf=render","host_type":""},{"url":"http://dx.doi.org/10.1038/nature08802","host_type":""},{"url":"https://dx.doi.org/10.1038/nature08802","host_type":""}],"fields_of_study":["Mitochondrial Function and Pathology","Cancer Genomics and Diagnostics","Genomics and Phylogenetic Studies","0301 basic medicine","0303 health sciences","03 medical and health sciences","Adult","Aged","Child","Colorectal Neoplasms","DNA, Mitochondrial","Female","Gene Frequency","Genetic Heterogeneity","Genetic Variation","Genotype","Humans","Intestinal Mucosa","Male","Middle Aged","Mutation"],"mesh_terms":["Adult","Aged","Child","DNA, Mitochondrial","Female","Gene Frequency","Genotype","Humans","Intestinal Mucosa","Male","Middle Aged","Mutation","Genetic Variation","Colorectal Neoplasms","Genetic Heterogeneity"],"keywords":["Heteroplasmy","Mitochondrial DNA","Massive parallel sequencing","Biology","Human mitochondrial genetics","Genetics","DNA sequencing","Mutation","Genome","Human genome","Mitochondrial disease","DNA","Gene","Adult","Male","Genotype","Genetic Variation","Middle Aged","DNA, Mitochondrial","Article","Genetic Heterogeneity","Gene Frequency","Humans","Female","Intestinal Mucosa","Child","Colorectal Neoplasms","Aged"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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