Ontology type: schema:ScholarlyArticle Open Access: True
2006-01
AUTHORSN. 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
ABSTRACTThe 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... »
PAGES76-83
http://scigraph.springernature.com/pub.10.1134/s102279540601011x
DOIhttp://dx.doi.org/10.1134/s102279540601011x
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1036474502
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
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