Spectrum of pathogenic mtDNA mutations in Leber’s hereditary optic neuropathy families from Siberia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2006-01

AUTHORS

N. V. Volodko, M. A. L’vova, E. B. Starikovskaya, O. A. Derbeneva, I. Yu. Bychkov, I. E. Mikhailovskaya, I. V. Pogozheva, F. F. Fedotov, G. V. Soyan, V. Procaccio, D. C. Wallace, R. I. Sukernik

ABSTRACT

The results of clinical, genealogical and molecular investigation of eighteen families with Leber’s hereditary optic neuropathy (LHON), identified on the territory of Siberia during the period from 1997 to 2005, are presented. Comprehensive analysis of mitochondrial genome variations in probands and their matrilineal relatives revealed the presence of relatively frequent (G11778A, G3460A, and T14484C), as well as rare and new mutations with the established or presumptive pathological effect (T10663C, G3535A, C4640A, and A14619G). The G11778A mutation was detected in nine pedigrees (50%), mostly in the families of ethnic Russians. In eight of these families G11778A was found in preferred association with the coding-region substitutions, typical of western Eurasian mtDNA lineage (haplogroup) TJ. On the contrary, the G3460A mutation was detected in the three families belonging to the indigenous Siberian populations (Tuvinians, Altaians, and Buryats). It was associated with clearly different haplotypes of eastern Eurasian haplogroups, C3, D5, and D8. Unexpectedly, the G3460A de novo mutation was found in a large Tuvinian pedigree. At the same time, in eleven out of fourteen families of Caucasoid origin pathogenic mutations in the ND genes were associated with the T4216C and C15445A coding-region mutations, marking the root motif of haplogoup TJ. It is suggested that phylogenetically ancient mutations could have provided their carriers with the adaptive advantages upon the development of Central and Northern Europe at the end of the last glaciation (10 000 to 9000 years ago), thereby, contributing to the preservation of weekly pathogenic LHON mutations, appearing at specific genetic background. More... »

PAGES

76-83

Identifiers

URI

http://scigraph.springernature.com/pub.10.1134/s102279540601011x

DOI

http://dx.doi.org/10.1134/s102279540601011x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036474502


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Institute of Cytology and Genetics", 
          "id": "https://www.grid.ac/institutes/grid.418953.2", 
          "name": [
            "Institute of Cytology and Genetics, Russian Academy of Sciences, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Volodko", 
        "givenName": "N. V.", 
        "id": "sg:person.01316676427.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316676427.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cytology and Genetics", 
          "id": "https://www.grid.ac/institutes/grid.418953.2", 
          "name": [
            "Institute of Cytology and Genetics, Russian Academy of Sciences, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "L\u2019vova", 
        "givenName": "M. A.", 
        "id": "sg:person.0776704065.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776704065.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cytology and Genetics", 
          "id": "https://www.grid.ac/institutes/grid.418953.2", 
          "name": [
            "Institute of Cytology and Genetics, Russian Academy of Sciences, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Starikovskaya", 
        "givenName": "E. B.", 
        "id": "sg:person.01365011627.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365011627.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California, Irvine", 
          "id": "https://www.grid.ac/institutes/grid.266093.8", 
          "name": [
            "Institute of Cytology and Genetics, Russian Academy of Sciences, 630090, Novosibirsk, Russia", 
            "Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California, 92637-3940, Irvine, CA, United States"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Derbeneva", 
        "givenName": "O. A.", 
        "id": "sg:person.01027131273.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027131273.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Regional Center of Eye Microsurgery, 630071, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bychkov", 
        "givenName": "I. Yu.", 
        "id": "sg:person.010037417277.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010037417277.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Regional Center of Eye Microsurgery, 630071, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mikhailovskaya", 
        "givenName": "I. E.", 
        "id": "sg:person.01230127447.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230127447.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Novosibirsk Regional Hospital, 630087, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pogozheva", 
        "givenName": "I. V.", 
        "id": "sg:person.01275474265.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275474265.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Ophthalmology, Out-patient Clinic, 660000, Gorno-Altaisk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fedotov", 
        "givenName": "F. F.", 
        "id": "sg:person.01343607465.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343607465.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Tuvinian Central Hospital, 667003, Kyzyl, Tyva Republic, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Soyan", 
        "givenName": "G. V.", 
        "id": "sg:person.0620203365.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620203365.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California, Irvine", 
          "id": "https://www.grid.ac/institutes/grid.266093.8", 
          "name": [
            "Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California, 92637-3940, Irvine, CA, United States"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Procaccio", 
        "givenName": "V.", 
        "id": "sg:person.01204276343.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204276343.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California, Irvine", 
          "id": "https://www.grid.ac/institutes/grid.266093.8", 
          "name": [
            "Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California, 92637-3940, Irvine, CA, United States"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wallace", 
        "givenName": "D. C.", 
        "id": "sg:person.012211015057.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012211015057.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cytology and Genetics", 
          "id": "https://www.grid.ac/institutes/grid.418953.2", 
          "name": [
            "Institute of Cytology and Genetics, Russian Academy of Sciences, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sukernik", 
        "givenName": "R. I.", 
        "id": "sg:person.01072062527.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072062527.40"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s10038-003-0042-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000638776", 
          "https://doi.org/10.1007/s10038-003-0042-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-001-0660-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002840730", 
          "https://doi.org/10.1007/s00439-001-0660-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-001-0660-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002840730", 
          "https://doi.org/10.1007/s00439-001-0660-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-001-0660-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002840730", 
          "https://doi.org/10.1007/s00439-001-0660-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390100538", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006282361", 
          "https://doi.org/10.1007/s004390100538"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390100538", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006282361", 
          "https://doi.org/10.1007/s004390100538"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.32.2.81", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007199858"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.39.3.162", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015125955"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg1606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024549229", 
          "https://doi.org/10.1038/nrg1606"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg1606", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024549229", 
          "https://doi.org/10.1038/nrg1606"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1023/a:1014369624346", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024752935", 
          "https://doi.org/10.1023/a:1014369624346"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0136972100", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025259770"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.preteyeres.2003.10.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029708409"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.20236", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033356729"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbrc.2005.05.059", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036051107"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0074-7696(08)61051-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038271202"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2003.011247", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038564184"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.1380060405", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040180235"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.1380060405", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040180235"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1529-8817.2003.00127.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041790697"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1529-8817.2003.00127.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041790697"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1098/rstb.2003.1394", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042358323"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004170050301", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043527092", 
          "https://doi.org/10.1007/s004170050301"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10384-004-0166-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044825096", 
          "https://doi.org/10.1007/s10384-004-0166-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0042-6989(97)00444-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045708403"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0197-0186(01)00129-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047316339"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0161-6420(96)30665-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048956939"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbrc.2005.05.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050709063"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s100380200091", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052106595", 
          "https://doi.org/10.1007/s100380200091"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gki079", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053356483"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbrc.2005.01.062", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053709339"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/303040", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610584"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/320613", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058623186"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/341720", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058639108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/346066", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058641329"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/346066", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058641329"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/375537", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058669257"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/375537", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058669257"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/383236", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058674525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/425871", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058714440"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/515488", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058789877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/118.2.319", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059439443"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.3201231", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062598995"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/112067210201200615", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1075211996"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/112067210201200615", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1075211996"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1076870238", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1076995293", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077249439", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082434177", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082458381", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082939827", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083038913", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083089128", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-01", 
    "datePublishedReg": "2006-01-01", 
    "description": "The results of clinical, genealogical and molecular investigation of eighteen families with Leber\u2019s hereditary optic neuropathy (LHON), identified on the territory of Siberia during the period from 1997 to 2005, are presented. Comprehensive analysis of mitochondrial genome variations in probands and their matrilineal relatives revealed the presence of relatively frequent (G11778A, G3460A, and T14484C), as well as rare and new mutations with the established or presumptive pathological effect (T10663C, G3535A, C4640A, and A14619G). The G11778A mutation was detected in nine pedigrees (50%), mostly in the families of ethnic Russians. In eight of these families G11778A was found in preferred association with the coding-region substitutions, typical of western Eurasian mtDNA lineage (haplogroup) TJ. On the contrary, the G3460A mutation was detected in the three families belonging to the indigenous Siberian populations (Tuvinians, Altaians, and Buryats). It was associated with clearly different haplotypes of eastern Eurasian haplogroups, C3, D5, and D8. Unexpectedly, the G3460A de novo mutation was found in a large Tuvinian pedigree. At the same time, in eleven out of fourteen families of Caucasoid origin pathogenic mutations in the ND genes were associated with the T4216C and C15445A coding-region mutations, marking the root motif of haplogoup TJ. It is suggested that phylogenetically ancient mutations could have provided their carriers with the adaptive advantages upon the development of Central and Northern Europe at the end of the last glaciation (10 000 to 9000 years ago), thereby, contributing to the preservation of weekly pathogenic LHON mutations, appearing at specific genetic background.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1134/s102279540601011x", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1319770", 
        "issn": [
          "1022-7954", 
          "1608-3369"
        ], 
        "name": "Russian Journal of Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "42"
      }
    ], 
    "name": "Spectrum of pathogenic mtDNA mutations in Leber\u2019s hereditary optic neuropathy families from Siberia", 
    "pagination": "76-83", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "adbfffb8fbffd6c058f1dbee05f341904d27e0e04b7644a234e7b0921e3586fd"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1134/s102279540601011x"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1036474502"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1134/s102279540601011x", 
      "https://app.dimensions.ai/details/publication/pub.1036474502"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:52", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000364_0000000364/records_72839_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1134/S102279540601011X"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1134/s102279540601011x'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1134/s102279540601011x'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1134/s102279540601011x'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1134/s102279540601011x'


 

This table displays all metadata directly associated to this object as RDF triples.

284 TRIPLES      21 PREDICATES      71 URIs      19 LITERALS      7 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1134/s102279540601011x schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Ncf16fe3589cf438a8759e4573414b61a
4 schema:citation sg:pub.10.1007/s004170050301
5 sg:pub.10.1007/s00439-001-0660-8
6 sg:pub.10.1007/s004390100538
7 sg:pub.10.1007/s10038-003-0042-2
8 sg:pub.10.1007/s100380200091
9 sg:pub.10.1007/s10384-004-0166-8
10 sg:pub.10.1023/a:1014369624346
11 sg:pub.10.1038/nrg1606
12 https://app.dimensions.ai/details/publication/pub.1076870238
13 https://app.dimensions.ai/details/publication/pub.1076995293
14 https://app.dimensions.ai/details/publication/pub.1077249439
15 https://app.dimensions.ai/details/publication/pub.1082434177
16 https://app.dimensions.ai/details/publication/pub.1082458381
17 https://app.dimensions.ai/details/publication/pub.1082939827
18 https://app.dimensions.ai/details/publication/pub.1083038913
19 https://app.dimensions.ai/details/publication/pub.1083089128
20 https://doi.org/10.1002/ana.20236
21 https://doi.org/10.1002/humu.1380060405
22 https://doi.org/10.1016/j.bbrc.2005.01.062
23 https://doi.org/10.1016/j.bbrc.2005.05.003
24 https://doi.org/10.1016/j.bbrc.2005.05.059
25 https://doi.org/10.1016/j.preteyeres.2003.10.003
26 https://doi.org/10.1016/s0042-6989(97)00444-6
27 https://doi.org/10.1016/s0074-7696(08)61051-7
28 https://doi.org/10.1016/s0161-6420(96)30665-9
29 https://doi.org/10.1016/s0197-0186(01)00129-2
30 https://doi.org/10.1046/j.1529-8817.2003.00127.x
31 https://doi.org/10.1073/pnas.0136972100
32 https://doi.org/10.1086/303040
33 https://doi.org/10.1086/320613
34 https://doi.org/10.1086/341720
35 https://doi.org/10.1086/346066
36 https://doi.org/10.1086/375537
37 https://doi.org/10.1086/383236
38 https://doi.org/10.1086/425871
39 https://doi.org/10.1086/515488
40 https://doi.org/10.1093/brain/118.2.319
41 https://doi.org/10.1093/nar/gki079
42 https://doi.org/10.1098/rstb.2003.1394
43 https://doi.org/10.1126/science.3201231
44 https://doi.org/10.1136/jmg.2003.011247
45 https://doi.org/10.1136/jmg.32.2.81
46 https://doi.org/10.1136/jmg.39.3.162
47 https://doi.org/10.1177/112067210201200615
48 schema:datePublished 2006-01
49 schema:datePublishedReg 2006-01-01
50 schema:description The results of clinical, genealogical and molecular investigation of eighteen families with Leber’s hereditary optic neuropathy (LHON), identified on the territory of Siberia during the period from 1997 to 2005, are presented. Comprehensive analysis of mitochondrial genome variations in probands and their matrilineal relatives revealed the presence of relatively frequent (G11778A, G3460A, and T14484C), as well as rare and new mutations with the established or presumptive pathological effect (T10663C, G3535A, C4640A, and A14619G). The G11778A mutation was detected in nine pedigrees (50%), mostly in the families of ethnic Russians. In eight of these families G11778A was found in preferred association with the coding-region substitutions, typical of western Eurasian mtDNA lineage (haplogroup) TJ. On the contrary, the G3460A mutation was detected in the three families belonging to the indigenous Siberian populations (Tuvinians, Altaians, and Buryats). It was associated with clearly different haplotypes of eastern Eurasian haplogroups, C3, D5, and D8. Unexpectedly, the G3460A de novo mutation was found in a large Tuvinian pedigree. At the same time, in eleven out of fourteen families of Caucasoid origin pathogenic mutations in the ND genes were associated with the T4216C and C15445A coding-region mutations, marking the root motif of haplogoup TJ. It is suggested that phylogenetically ancient mutations could have provided their carriers with the adaptive advantages upon the development of Central and Northern Europe at the end of the last glaciation (10 000 to 9000 years ago), thereby, contributing to the preservation of weekly pathogenic LHON mutations, appearing at specific genetic background.
51 schema:genre research_article
52 schema:inLanguage en
53 schema:isAccessibleForFree true
54 schema:isPartOf N3ac735544c6c4032851cb4a6ab0f7f84
55 N4b115ef04533417298fa4f9d95ebd1c8
56 sg:journal.1319770
57 schema:name Spectrum of pathogenic mtDNA mutations in Leber’s hereditary optic neuropathy families from Siberia
58 schema:pagination 76-83
59 schema:productId N8316435772954811a92b3c31d2b5fddb
60 Nc9241ac2130b40c69db8c571ce258a3c
61 Nd5c1a0425cc14796a908bb55103c44b5
62 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036474502
63 https://doi.org/10.1134/s102279540601011x
64 schema:sdDatePublished 2019-04-11T12:52
65 schema:sdLicense https://scigraph.springernature.com/explorer/license/
66 schema:sdPublisher Nab25475305314ed3b8da942452e5334c
67 schema:url http://link.springer.com/10.1134/S102279540601011X
68 sgo:license sg:explorer/license/
69 sgo:sdDataset articles
70 rdf:type schema:ScholarlyArticle
71 N0d79cb97928e43c39ab9abe314f7a9eb rdf:first sg:person.01343607465.35
72 rdf:rest N564967b826154066a09c9c979d7fcaad
73 N173a79a27fdc4ceb8866f8786273ddde schema:name Tuvinian Central Hospital, 667003, Kyzyl, Tyva Republic, Russia
74 rdf:type schema:Organization
75 N219137f44c9c416ea6a6287be49730ae rdf:first sg:person.01365011627.16
76 rdf:rest Nb43859078caf407abf0c2258d75c32b6
77 N309ee638a9a1430aa9f54dc491b480de schema:name Novosibirsk Regional Hospital, 630087, Novosibirsk, Russia
78 rdf:type schema:Organization
79 N3ac735544c6c4032851cb4a6ab0f7f84 schema:volumeNumber 42
80 rdf:type schema:PublicationVolume
81 N411071c11b0549a0b8b4041e5507b786 rdf:first sg:person.012211015057.25
82 rdf:rest Nf0efbdc443b6473e852edf0780fa0f91
83 N4b115ef04533417298fa4f9d95ebd1c8 schema:issueNumber 1
84 rdf:type schema:PublicationIssue
85 N564967b826154066a09c9c979d7fcaad rdf:first sg:person.0620203365.71
86 rdf:rest Ncddb83070c9340508c70e159d156f946
87 N627944a1cad747189d3a8edd0528c895 rdf:first sg:person.01230127447.58
88 rdf:rest Nfa85d9a71da844628d2c0b1aa2675e35
89 N6f83beee510e4e1ead08298dd3c42c79 schema:name Regional Center of Eye Microsurgery, 630071, Novosibirsk, Russia
90 rdf:type schema:Organization
91 N8316435772954811a92b3c31d2b5fddb schema:name doi
92 schema:value 10.1134/s102279540601011x
93 rdf:type schema:PropertyValue
94 Na6adbe31ec134504a33e1dc777717f6b schema:name Department of Ophthalmology, Out-patient Clinic, 660000, Gorno-Altaisk, Russia
95 rdf:type schema:Organization
96 Nab25475305314ed3b8da942452e5334c schema:name Springer Nature - SN SciGraph project
97 rdf:type schema:Organization
98 Nb43859078caf407abf0c2258d75c32b6 rdf:first sg:person.01027131273.71
99 rdf:rest Nd4faae7e9946480daf423c32739c9366
100 Nbb32f446707d42e7b13f4b669d5edb23 schema:name Regional Center of Eye Microsurgery, 630071, Novosibirsk, Russia
101 rdf:type schema:Organization
102 Nbf6205002a574a078895d303d381149e rdf:first sg:person.0776704065.98
103 rdf:rest N219137f44c9c416ea6a6287be49730ae
104 Nc9241ac2130b40c69db8c571ce258a3c schema:name readcube_id
105 schema:value adbfffb8fbffd6c058f1dbee05f341904d27e0e04b7644a234e7b0921e3586fd
106 rdf:type schema:PropertyValue
107 Ncddb83070c9340508c70e159d156f946 rdf:first sg:person.01204276343.86
108 rdf:rest N411071c11b0549a0b8b4041e5507b786
109 Ncf16fe3589cf438a8759e4573414b61a rdf:first sg:person.01316676427.00
110 rdf:rest Nbf6205002a574a078895d303d381149e
111 Nd4faae7e9946480daf423c32739c9366 rdf:first sg:person.010037417277.55
112 rdf:rest N627944a1cad747189d3a8edd0528c895
113 Nd5c1a0425cc14796a908bb55103c44b5 schema:name dimensions_id
114 schema:value pub.1036474502
115 rdf:type schema:PropertyValue
116 Nf0efbdc443b6473e852edf0780fa0f91 rdf:first sg:person.01072062527.40
117 rdf:rest rdf:nil
118 Nfa85d9a71da844628d2c0b1aa2675e35 rdf:first sg:person.01275474265.25
119 rdf:rest N0d79cb97928e43c39ab9abe314f7a9eb
120 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
121 schema:name Biological Sciences
122 rdf:type schema:DefinedTerm
123 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
124 schema:name Genetics
125 rdf:type schema:DefinedTerm
126 sg:journal.1319770 schema:issn 1022-7954
127 1608-3369
128 schema:name Russian Journal of Genetics
129 rdf:type schema:Periodical
130 sg:person.010037417277.55 schema:affiliation Nbb32f446707d42e7b13f4b669d5edb23
131 schema:familyName Bychkov
132 schema:givenName I. Yu.
133 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010037417277.55
134 rdf:type schema:Person
135 sg:person.01027131273.71 schema:affiliation https://www.grid.ac/institutes/grid.266093.8
136 schema:familyName Derbeneva
137 schema:givenName O. A.
138 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027131273.71
139 rdf:type schema:Person
140 sg:person.01072062527.40 schema:affiliation https://www.grid.ac/institutes/grid.418953.2
141 schema:familyName Sukernik
142 schema:givenName R. I.
143 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072062527.40
144 rdf:type schema:Person
145 sg:person.01204276343.86 schema:affiliation https://www.grid.ac/institutes/grid.266093.8
146 schema:familyName Procaccio
147 schema:givenName V.
148 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204276343.86
149 rdf:type schema:Person
150 sg:person.012211015057.25 schema:affiliation https://www.grid.ac/institutes/grid.266093.8
151 schema:familyName Wallace
152 schema:givenName D. C.
153 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012211015057.25
154 rdf:type schema:Person
155 sg:person.01230127447.58 schema:affiliation N6f83beee510e4e1ead08298dd3c42c79
156 schema:familyName Mikhailovskaya
157 schema:givenName I. E.
158 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230127447.58
159 rdf:type schema:Person
160 sg:person.01275474265.25 schema:affiliation N309ee638a9a1430aa9f54dc491b480de
161 schema:familyName Pogozheva
162 schema:givenName I. V.
163 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275474265.25
164 rdf:type schema:Person
165 sg:person.01316676427.00 schema:affiliation https://www.grid.ac/institutes/grid.418953.2
166 schema:familyName Volodko
167 schema:givenName N. V.
168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01316676427.00
169 rdf:type schema:Person
170 sg:person.01343607465.35 schema:affiliation Na6adbe31ec134504a33e1dc777717f6b
171 schema:familyName Fedotov
172 schema:givenName F. F.
173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343607465.35
174 rdf:type schema:Person
175 sg:person.01365011627.16 schema:affiliation https://www.grid.ac/institutes/grid.418953.2
176 schema:familyName Starikovskaya
177 schema:givenName E. B.
178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365011627.16
179 rdf:type schema:Person
180 sg:person.0620203365.71 schema:affiliation N173a79a27fdc4ceb8866f8786273ddde
181 schema:familyName Soyan
182 schema:givenName G. V.
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0620203365.71
184 rdf:type schema:Person
185 sg:person.0776704065.98 schema:affiliation https://www.grid.ac/institutes/grid.418953.2
186 schema:familyName L’vova
187 schema:givenName M. A.
188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776704065.98
189 rdf:type schema:Person
190 sg:pub.10.1007/s004170050301 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043527092
191 https://doi.org/10.1007/s004170050301
192 rdf:type schema:CreativeWork
193 sg:pub.10.1007/s00439-001-0660-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002840730
194 https://doi.org/10.1007/s00439-001-0660-8
195 rdf:type schema:CreativeWork
196 sg:pub.10.1007/s004390100538 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006282361
197 https://doi.org/10.1007/s004390100538
198 rdf:type schema:CreativeWork
199 sg:pub.10.1007/s10038-003-0042-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000638776
200 https://doi.org/10.1007/s10038-003-0042-2
201 rdf:type schema:CreativeWork
202 sg:pub.10.1007/s100380200091 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052106595
203 https://doi.org/10.1007/s100380200091
204 rdf:type schema:CreativeWork
205 sg:pub.10.1007/s10384-004-0166-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044825096
206 https://doi.org/10.1007/s10384-004-0166-8
207 rdf:type schema:CreativeWork
208 sg:pub.10.1023/a:1014369624346 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024752935
209 https://doi.org/10.1023/a:1014369624346
210 rdf:type schema:CreativeWork
211 sg:pub.10.1038/nrg1606 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024549229
212 https://doi.org/10.1038/nrg1606
213 rdf:type schema:CreativeWork
214 https://app.dimensions.ai/details/publication/pub.1076870238 schema:CreativeWork
215 https://app.dimensions.ai/details/publication/pub.1076995293 schema:CreativeWork
216 https://app.dimensions.ai/details/publication/pub.1077249439 schema:CreativeWork
217 https://app.dimensions.ai/details/publication/pub.1082434177 schema:CreativeWork
218 https://app.dimensions.ai/details/publication/pub.1082458381 schema:CreativeWork
219 https://app.dimensions.ai/details/publication/pub.1082939827 schema:CreativeWork
220 https://app.dimensions.ai/details/publication/pub.1083038913 schema:CreativeWork
221 https://app.dimensions.ai/details/publication/pub.1083089128 schema:CreativeWork
222 https://doi.org/10.1002/ana.20236 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033356729
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1002/humu.1380060405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040180235
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1016/j.bbrc.2005.01.062 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053709339
227 rdf:type schema:CreativeWork
228 https://doi.org/10.1016/j.bbrc.2005.05.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050709063
229 rdf:type schema:CreativeWork
230 https://doi.org/10.1016/j.bbrc.2005.05.059 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036051107
231 rdf:type schema:CreativeWork
232 https://doi.org/10.1016/j.preteyeres.2003.10.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029708409
233 rdf:type schema:CreativeWork
234 https://doi.org/10.1016/s0042-6989(97)00444-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045708403
235 rdf:type schema:CreativeWork
236 https://doi.org/10.1016/s0074-7696(08)61051-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038271202
237 rdf:type schema:CreativeWork
238 https://doi.org/10.1016/s0161-6420(96)30665-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048956939
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1016/s0197-0186(01)00129-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047316339
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1046/j.1529-8817.2003.00127.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1041790697
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1073/pnas.0136972100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025259770
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1086/303040 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610584
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1086/320613 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058623186
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1086/341720 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058639108
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1086/346066 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058641329
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1086/375537 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058669257
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1086/383236 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058674525
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1086/425871 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058714440
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1086/515488 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058789877
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1093/brain/118.2.319 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059439443
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1093/nar/gki079 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053356483
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1098/rstb.2003.1394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042358323
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1126/science.3201231 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062598995
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1136/jmg.2003.011247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038564184
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1136/jmg.32.2.81 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007199858
273 rdf:type schema:CreativeWork
274 https://doi.org/10.1136/jmg.39.3.162 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015125955
275 rdf:type schema:CreativeWork
276 https://doi.org/10.1177/112067210201200615 schema:sameAs https://app.dimensions.ai/details/publication/pub.1075211996
277 rdf:type schema:CreativeWork
278 https://www.grid.ac/institutes/grid.266093.8 schema:alternateName University of California, Irvine
279 schema:name Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California, 92637-3940, Irvine, CA, United States
280 Institute of Cytology and Genetics, Russian Academy of Sciences, 630090, Novosibirsk, Russia
281 rdf:type schema:Organization
282 https://www.grid.ac/institutes/grid.418953.2 schema:alternateName Institute of Cytology and Genetics
283 schema:name Institute of Cytology and Genetics, Russian Academy of Sciences, 630090, Novosibirsk, Russia
284 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...