{"id":"https://openalex.org/W2052157808","doi":null,"title":"Mutational analysis of the human mitochondrial genome branches into the realm of bacterial genetics.","display_name":"Mutational analysis of the human mitochondrial genome branches into the realm of bacterial genetics.","publication_year":1996,"publication_date":"1996-10-01","ids":{"openalex":"https://openalex.org/W2052157808","mag":"2052157808","pmid":"https://pubmed.ncbi.nlm.nih.gov/8808587","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914790"},"language":"en","primary_location":{"id":"pmid:8808587","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8808587","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Editorial"},"volume":null,"type":"editorial","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914790/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056991878","display_name":"Neil Howell","orcid":"https://orcid.org/0000-0003-2851-089X","observed_orcids":["https://orcid.org/0000-0003-2851-089X"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"N Howell","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5056991878"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":22,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"59","issue":"4","first_page":"749","last_page":"55"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9003999829292297,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9003999829292297,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11764","display_name":"Evolution and Genetic Dynamics","score":0.03620000183582306,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10751","display_name":"Forensic and Genetic Research","score":0.020899999886751175,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/human-mitochondrial-genome","display_name":"human mitochondrial genome","score":0.8270000219345093},{"id":"https://openalex.org/keywords/mtdna-mutation-rate","display_name":"mtDNA mutation rate","score":0.7649999856948853},{"id":"https://openalex.org/keywords/fluctuation-analysis","display_name":"fluctuation analysis","score":0.9480000138282776},{"id":"https://openalex.org/keywords/kearns-sayre-syndrome","display_name":"Kearns-Sayre syndrome","score":0.878000020980835},{"id":"https://openalex.org/keywords/chronic-progressive-external-ophthalmoplegia","display_name":"chronic progressive external ophthalmoplegia","score":0.9959999918937683},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.6980000138282776},{"id":"https://openalex.org/keywords/mitochondrial-genome-evolution","display_name":"mitochondrial genome evolution","score":0.6190000176429749},{"id":"https://openalex.org/keywords/bacterial-genetics","display_name":"bacterial genetics","score":0.6430000066757202}],"concepts":[{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.8319071531295776},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7625470161437988},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6659339666366577},{"id":"https://openalex.org/C151994961","wikidata":"https://www.wikidata.org/wiki/Q715263","display_name":"Human mitochondrial genetics","level":4,"score":0.5149641633033752},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.49939680099487305},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.49166160821914673},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.44488081336021423},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.34334883093833923}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001419","descriptor_name":"Bacteria","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012441","descriptor_name":"Saccharomyces cerevisiae","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015388","descriptor_name":"Organelles","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016825","descriptor_name":"Chlamydomonas reinhardtii","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:8808587","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8808587","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Editorial"},{"id":"pmh:oai:pubmedcentral.nih.gov:1914790","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914790/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},{"id":"mag:2052157808","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8808587","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1914790","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914790/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6108334836","display_name":"MITOCHONDRIAL DISEASES AND NEURODEGENERATION","funder_award_id":"R01EY010758","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"}],"funders":[{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":49,"referenced_works":["https://openalex.org/W264705427","https://openalex.org/W1522536942","https://openalex.org/W1596709229","https://openalex.org/W1599184622","https://openalex.org/W1605456685","https://openalex.org/W1657255250","https://openalex.org/W1824301619","https://openalex.org/W1890167219","https://openalex.org/W1905467344","https://openalex.org/W1924700166","https://openalex.org/W1942156285","https://openalex.org/W1951480739","https://openalex.org/W1968179480","https://openalex.org/W1968194929","https://openalex.org/W1968902723","https://openalex.org/W1968952472","https://openalex.org/W1973851166","https://openalex.org/W1984517982","https://openalex.org/W1987609716","https://openalex.org/W1990368793","https://openalex.org/W1994496497","https://openalex.org/W2002736146","https://openalex.org/W2019872526","https://openalex.org/W2024021494","https://openalex.org/W2024085208","https://openalex.org/W2024239836","https://openalex.org/W2045716211","https://openalex.org/W2053374225","https://openalex.org/W2064655402","https://openalex.org/W2071869532","https://openalex.org/W2073917725","https://openalex.org/W2075740431","https://openalex.org/W2077414996","https://openalex.org/W2080449796","https://openalex.org/W2093438701","https://openalex.org/W2097295643","https://openalex.org/W2104549437","https://openalex.org/W2115372514","https://openalex.org/W2130315111","https://openalex.org/W2135532205","https://openalex.org/W2140303028","https://openalex.org/W2148755629","https://openalex.org/W2148869040","https://openalex.org/W2157273648","https://openalex.org/W2168987630","https://openalex.org/W2170343590","https://openalex.org/W2315433973","https://openalex.org/W2328596111","https://openalex.org/W2994411218"],"related_works":["https://openalex.org/W2253599539","https://openalex.org/W2162986722","https://openalex.org/W4399430128","https://openalex.org/W6922797065","https://openalex.org/W2990160317","https://openalex.org/W2039294540","https://openalex.org/W790448856","https://openalex.org/W1988297489","https://openalex.org/W429968310","https://openalex.org/W3092357830"],"abstract_inverted_index":{"This":[0],"is":[1,98,131,224],"shaping":[2],"up":[3],"as":[4,174],"a":[5,22,60,114,132,179,216],"vintage":[6],"year":[7],"for":[8,100,203,239],"studies":[9],"of":[10,15,36,43,57,79,88,110,116,138,143,146,160,166,184,195],"the":[11,16,40,44,50,80,86,105,136,139,158,182,193],"genetics":[12],"and":[13,24,55,122,164,177,226,230],"evolution":[14],"human":[17,51,92],"mitochondrial":[18,93,147],"genome":[19],"(mtDNA).":[20],"In":[21,104],"theoretical":[23],"experimental":[25],"tour":[26],"de":[27],"force,":[28],"Shenkar":[29,69,185],"et":[30,70,186],"al.":[31,187],"(1996),":[32],"on":[33,162],"pages":[34],"772-780":[35],"this":[37,111,144,167,233],"issue,":[38],"derive":[39],"mutation":[41],"rate":[42],"4,977-bp":[45],"(or":[46],"{open_quotes}common{close_quotes})":[47],"deletion":[48,112,168],"in":[49,72,85,135],"mtDNA":[52,172,197,208],"through":[53],"refinement":[54],"extension":[56],"fluctuation":[58,89],"analysis,":[59],"technique":[61],"that":[62,82,206,232],"was":[63],"first":[64,106],"used":[65,238],">50":[66],"years":[67,205],"ago.":[68],"al.,":[71],"essence,":[73],"have":[74],"solved":[75],"or":[76],"bypassed":[77],"many":[78],"difficulties":[81],"are":[83],"inherent":[84],"application":[87],"analysis":[90],"to":[91,156,192],"gene":[94],"mutations.":[95,198],"Their":[96,127],"study":[97,194],"important":[99],"two":[101],"principal":[102],"reasons.":[103],"place,":[107],"high":[108],"levels":[109],"cause":[113],"variety":[115],"pathological":[117],"disorders,":[118],"including":[119],"Kearns-Sayre":[120],"syndrome":[121],"chronic":[123],"progressive":[124],"external":[125],"ophthalmoplegia.":[126],"current":[128],"report,":[129],"therefore,":[130],"major":[133],"step":[134],"elucidation":[137],"molecular":[140],"genetic":[141],"pathogenesis":[142],"group":[145],"disorders.":[148],"For":[149],"example,":[150],"it":[151],"now":[152],"may":[153],"be":[154,237],"feasible":[155],"analyze":[157],"effects":[159],"selection":[161],"transmission":[163],"segregation":[165],"and,":[169],"perhaps,":[170],"other":[171,196],"mutations":[173],"well.":[175],"Second,":[176],"at":[178],"broader":[180],"level,":[181],"approach":[183,235],"should":[188],"find":[189],"widespread":[190],"applicability":[191],"Itmore\u00a0\u00bb":[199],"has":[200],"been":[201],"recognized":[202],"several":[204],"mammalian":[207],"mutates":[209],"much":[210],"more":[211],"rapidly":[212],"than":[213],"nuclear":[214],"DNA,":[215],"phenomenon":[217],"with":[218],"potentially":[219],"profound":[220],"evolutionary":[221],"implications.":[222],"It":[223],"exciting":[225],"useful,":[227],"both":[228],"experimentally":[229],"theoretically,":[231],"{open_quotes}old{close_quotes}":[234],"can":[236],"{open_quotes}new{close_quotes}":[240],"applications.":[241],"56":[242],"refs.\u00ab\u00a0less":[243]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}