Human F7 sequence is split into three deep clades that are related to FVII plasma levels View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-02

AUTHORS

Maria Sabater-Lleal, José Manuel Soria, Jaume Bertranpetit, Laura Almasy, John Blangero, Jordi Fontcuberta, Francesc Calafell

ABSTRACT

It is widely accepted that FVII levels are strongly, consistently, and independently related to cardiovascular risk. These levels are influenced by genetic and environmental factors. Among the genetic factors, only a limited number of polymorphisms in the F7 gene have been reported, and they explain only a small proportion of the genetic variability. Recently, we have accomplished the complete dissection of the F7 quantitative trait locus responsible for all of the genetic variability observed in FVII levels. Now, we present the thorough study of the haplotype organization of F7 DNA sequence variation among individuals and the evolutionary processes that produced this variation, by sequencing 15 kb of genomic DNA sequence from the F7 locus in 40 unrelated individual (80 chromosomes) from the genetic analysis of idiopathic thrombophilia (GAIT) project as well as four non-human primate species. Our study revealed 49 polymorphisms, of which 39 SNPs were further considered. Genotyping of these DNA variations in the whole family-based GAIT sample helped resolve linkage phases, and a total of 37 distinct haplotypes were identified.Tajima's D was significantly positive in this sample, suggesting balancing selection. This parameter was a reflection of the phylogenetic structure of F7 haplotype, which was deeply split into three well-supported clades or haplogroups, suggesting that functional differences among F7 variants do not depend on a few single-site variations. Moreover, haplogroup 2 was associated with high FVII levels and haplogroup 3 with low levels. In this study, we have for the first time established a clear relation between genotypic variability structure and phenotypic variability of a particular quantitative trait involved in a complex disease. More... »

PAGES

741-751

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-005-0045-5

DOI

http://dx.doi.org/10.1007/s00439-005-0045-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011316019

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16292673


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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Evolution, Molecular", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Factor VII", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gorilla gorilla", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haplotypes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pan paniscus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pan troglodytes", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phylogeny", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pongo pygmaeus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Homology, Nucleic Acid", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Hospital de Sant Pau", 
          "id": "https://www.grid.ac/institutes/grid.413396.a", 
          "name": [
            "Unitat d\u2019Hemost\u00e0sia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sabater-Lleal", 
        "givenName": "Maria", 
        "id": "sg:person.0634057525.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634057525.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital de Sant Pau", 
          "id": "https://www.grid.ac/institutes/grid.413396.a", 
          "name": [
            "Unitat d\u2019Hemost\u00e0sia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Soria", 
        "givenName": "Jos\u00e9 Manuel", 
        "id": "sg:person.012315061302.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012315061302.94"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pompeu Fabra University", 
          "id": "https://www.grid.ac/institutes/grid.5612.0", 
          "name": [
            "Departament de Biologia Evolutiva, Universitat Pompeu Fabra, Doctor Aiguader 80, 08005, Barcelona, Catalonia, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bertranpetit", 
        "givenName": "Jaume", 
        "id": "sg:person.0604654434.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604654434.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Texas Biomedical Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.250889.e", 
          "name": [
            "Genetics Department, Southwest Foundation for Biomedical Research, San Antonio, Texas, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Almasy", 
        "givenName": "Laura", 
        "id": "sg:person.01347500074.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347500074.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Texas Biomedical Research Institute", 
          "id": "https://www.grid.ac/institutes/grid.250889.e", 
          "name": [
            "Genetics Department, Southwest Foundation for Biomedical Research, San Antonio, Texas, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Blangero", 
        "givenName": "John", 
        "id": "sg:person.0672207174.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672207174.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hospital de Sant Pau", 
          "id": "https://www.grid.ac/institutes/grid.413396.a", 
          "name": [
            "Unitat d\u2019Hemost\u00e0sia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fontcuberta", 
        "givenName": "Jordi", 
        "id": "sg:person.01277267235.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277267235.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pompeu Fabra University", 
          "id": "https://www.grid.ac/institutes/grid.5612.0", 
          "name": [
            "Departament de Biologia Evolutiva, Universitat Pompeu Fabra, Doctor Aiguader 80, 08005, Barcelona, Catalonia, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Calafell", 
        "givenName": "Francesc", 
        "id": "sg:person.01036367335.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036367335.40"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.tig.2004.05.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001182916"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng917", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002365953", 
          "https://doi.org/10.1038/ng917"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng917", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002365953", 
          "https://doi.org/10.1038/ng917"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pbio.0030170", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004200208"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1078311", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005962126"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199801083380202", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010390850"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0022-2836(70)90057-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021169618"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9157", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021289141"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/15.2.174", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024466567"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.74.12.5260", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024855021"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/8760", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025942069", 
          "https://doi.org/10.1038/8760"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/8760", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025942069", 
          "https://doi.org/10.1038/8760"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.molbev.a003791", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026954818"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0140-6736(93)92062-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026966608"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0140-6736(93)92062-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026966608"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.146900", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029716143"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200970", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032767274", 
          "https://doi.org/10.1038/sj.ejhg.5200970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200970", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032767274", 
          "https://doi.org/10.1038/sj.ejhg.5200970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/tpbi.1995.1026", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034328618"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/01.cir.101.13.1546", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035779849"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1534/genetics.103.025726", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041113871"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1534/genetics.103.025726", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041113871"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-002-0763-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043036873", 
          "https://doi.org/10.1007/s00439-002-0763-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-002-0763-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043036873", 
          "https://doi.org/10.1007/s00439-002-0763-x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pbio.0020286", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044097460"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00239-004-2628-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044493022", 
          "https://doi.org/10.1007/s00239-004-2628-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1538-7836.2003.00424.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046230561"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm200009143431104", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048692290"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/1098-1004(2001)17:1<3::aid-humu2>3.0.co;2-v", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049199438"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/01.atv.20.2.593", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052704681"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1353/hub.2006.0006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053018481"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/301977", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609569"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/316903", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058621846"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/318206", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058622340"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/340610", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058638694"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.gr-1677rr", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060407561"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/sqb.2003.68.79", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1060416000"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1059431", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062444509"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1161/01.atv.17.8.1539", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063334777"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074273157", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074369696", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074645492", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074662815", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075488204", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1078754433", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082854388", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082892637", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-0038-1650323", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1082933745"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-0038-1657519", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083107621"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083340310", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-02", 
    "datePublishedReg": "2006-02-01", 
    "description": "It is widely accepted that FVII levels are strongly, consistently, and independently related to cardiovascular risk. These levels are influenced by genetic and environmental factors. Among the genetic factors, only a limited number of polymorphisms in the F7 gene have been reported, and they explain only a small proportion of the genetic variability. Recently, we have accomplished the complete dissection of the F7 quantitative trait locus responsible for all of the genetic variability observed in FVII levels. Now, we present the thorough study of the haplotype organization of F7 DNA sequence variation among individuals and the evolutionary processes that produced this variation, by sequencing 15 kb of genomic DNA sequence from the F7 locus in 40 unrelated individual (80 chromosomes) from the genetic analysis of idiopathic thrombophilia (GAIT) project as well as four non-human primate species. Our study revealed 49 polymorphisms, of which 39 SNPs were further considered. Genotyping of these DNA variations in the whole family-based GAIT sample helped resolve linkage phases, and a total of 37 distinct haplotypes were identified.Tajima's D was significantly positive in this sample, suggesting balancing selection. This parameter was a reflection of the phylogenetic structure of F7 haplotype, which was deeply split into three well-supported clades or haplogroups, suggesting that functional differences among F7 variants do not depend on a few single-site variations. Moreover, haplogroup 2 was associated with high FVII levels and haplogroup 3 with low levels. In this study, we have for the first time established a clear relation between genotypic variability structure and phenotypic variability of a particular quantitative trait involved in a complex disease.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00439-005-0045-5", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2538741", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "118"
      }
    ], 
    "name": "Human F7 sequence is split into three deep clades that are related to FVII plasma levels", 
    "pagination": "741-751", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "35ea02ca06bde5926154751f7b17da3a41cec823cbedd10e7e8bccd80c15fa9f"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16292673"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7613873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00439-005-0045-5"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1011316019"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00439-005-0045-5", 
      "https://app.dimensions.ai/details/publication/pub.1011316019"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T14:21", 
    "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/v90/0000000372_0000000372/records_117128_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs00439-005-0045-5"
  }
]
 

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.10.1007/s00439-005-0045-5'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00439-005-0045-5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00439-005-0045-5'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00439-005-0045-5'


 

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

307 TRIPLES      21 PREDICATES      88 URIs      36 LITERALS      24 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00439-005-0045-5 schema:about N062e249e0e9d4c5a8b23f9f8225905cb
2 N0cb2f537cf5d409caef512b1c44c137d
3 N1cdc810bb4884fd6ad5ccfa7bcc4caa4
4 N3a67ae85525941848eb32f2e1fa7a0f8
5 N4bf9011eb4ec4200aed14f76341f8272
6 N52ec628dd5c8448aa49854c905a3d26a
7 N5389a2819c3a4401a7a2f9ab80b5b1dd
8 N93749f681ed341dfa781a8a500a7b316
9 N9575e651857346bea0cec7eaa5fc66c4
10 Na41a665c1a164017a02a3b4bbab5940c
11 Na4878151e2c24014b6f91024214ec179
12 Ncc5de81cd45c4e209cc48bee54127e11
13 Nda85f5198c6e4687a9b4a7705730ee65
14 Nf9caa55a45fb43cb875e897f29174e03
15 Nfd5164a1273a4a0194f399d4aa10d30d
16 anzsrc-for:06
17 anzsrc-for:0604
18 schema:author N9b84fde1228f41e99a208f1dd9cbbf1a
19 schema:citation sg:pub.10.1007/s00239-004-2628-5
20 sg:pub.10.1007/s00439-002-0763-x
21 sg:pub.10.1038/8760
22 sg:pub.10.1038/ng917
23 sg:pub.10.1038/sj.ejhg.5200970
24 https://app.dimensions.ai/details/publication/pub.1074273157
25 https://app.dimensions.ai/details/publication/pub.1074369696
26 https://app.dimensions.ai/details/publication/pub.1074645492
27 https://app.dimensions.ai/details/publication/pub.1074662815
28 https://app.dimensions.ai/details/publication/pub.1075488204
29 https://app.dimensions.ai/details/publication/pub.1078754433
30 https://app.dimensions.ai/details/publication/pub.1082854388
31 https://app.dimensions.ai/details/publication/pub.1082892637
32 https://app.dimensions.ai/details/publication/pub.1083340310
33 https://doi.org/10.1002/1098-1004(2001)17:1<3::aid-humu2>3.0.co;2-v
34 https://doi.org/10.1002/humu.9157
35 https://doi.org/10.1006/tpbi.1995.1026
36 https://doi.org/10.1016/0022-2836(70)90057-4
37 https://doi.org/10.1016/0140-6736(93)92062-x
38 https://doi.org/10.1016/j.tig.2004.05.002
39 https://doi.org/10.1046/j.1538-7836.2003.00424.x
40 https://doi.org/10.1055/s-0038-1650323
41 https://doi.org/10.1055/s-0038-1657519
42 https://doi.org/10.1056/nejm199801083380202
43 https://doi.org/10.1056/nejm200009143431104
44 https://doi.org/10.1073/pnas.74.12.5260
45 https://doi.org/10.1086/301977
46 https://doi.org/10.1086/316903
47 https://doi.org/10.1086/318206
48 https://doi.org/10.1086/340610
49 https://doi.org/10.1093/bioinformatics/15.2.174
50 https://doi.org/10.1093/oxfordjournals.molbev.a003791
51 https://doi.org/10.1101/gr.146900
52 https://doi.org/10.1101/gr.gr-1677rr
53 https://doi.org/10.1101/sqb.2003.68.79
54 https://doi.org/10.1126/science.1059431
55 https://doi.org/10.1126/science.1078311
56 https://doi.org/10.1161/01.atv.17.8.1539
57 https://doi.org/10.1161/01.atv.20.2.593
58 https://doi.org/10.1161/01.cir.101.13.1546
59 https://doi.org/10.1353/hub.2006.0006
60 https://doi.org/10.1371/journal.pbio.0020286
61 https://doi.org/10.1371/journal.pbio.0030170
62 https://doi.org/10.1534/genetics.103.025726
63 schema:datePublished 2006-02
64 schema:datePublishedReg 2006-02-01
65 schema:description It is widely accepted that FVII levels are strongly, consistently, and independently related to cardiovascular risk. These levels are influenced by genetic and environmental factors. Among the genetic factors, only a limited number of polymorphisms in the F7 gene have been reported, and they explain only a small proportion of the genetic variability. Recently, we have accomplished the complete dissection of the F7 quantitative trait locus responsible for all of the genetic variability observed in FVII levels. Now, we present the thorough study of the haplotype organization of F7 DNA sequence variation among individuals and the evolutionary processes that produced this variation, by sequencing 15 kb of genomic DNA sequence from the F7 locus in 40 unrelated individual (80 chromosomes) from the genetic analysis of idiopathic thrombophilia (GAIT) project as well as four non-human primate species. Our study revealed 49 polymorphisms, of which 39 SNPs were further considered. Genotyping of these DNA variations in the whole family-based GAIT sample helped resolve linkage phases, and a total of 37 distinct haplotypes were identified.Tajima's D was significantly positive in this sample, suggesting balancing selection. This parameter was a reflection of the phylogenetic structure of F7 haplotype, which was deeply split into three well-supported clades or haplogroups, suggesting that functional differences among F7 variants do not depend on a few single-site variations. Moreover, haplogroup 2 was associated with high FVII levels and haplogroup 3 with low levels. In this study, we have for the first time established a clear relation between genotypic variability structure and phenotypic variability of a particular quantitative trait involved in a complex disease.
66 schema:genre research_article
67 schema:inLanguage en
68 schema:isAccessibleForFree false
69 schema:isPartOf N16eb62ed0b234c5fbb666fbde746afda
70 N6bb92151a06049dea98496f41d69e568
71 sg:journal.1085982
72 schema:name Human F7 sequence is split into three deep clades that are related to FVII plasma levels
73 schema:pagination 741-751
74 schema:productId Nbe5dc96224294e408679b7b387fb6726
75 Nc5dd849ff9d34fc6bc7fe70e9489d245
76 Ndbe6afe560a043d8b4b2a82b25b6e4b4
77 Ne5029e07aef04f61849250f45841faf4
78 Nfd300aca0e774b95967589785411dcc7
79 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011316019
80 https://doi.org/10.1007/s00439-005-0045-5
81 schema:sdDatePublished 2019-04-11T14:21
82 schema:sdLicense https://scigraph.springernature.com/explorer/license/
83 schema:sdPublisher N1078795ad512469980dcc09a8e7713b9
84 schema:url https://link.springer.com/10.1007%2Fs00439-005-0045-5
85 sgo:license sg:explorer/license/
86 sgo:sdDataset articles
87 rdf:type schema:ScholarlyArticle
88 N062e249e0e9d4c5a8b23f9f8225905cb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Evolution, Molecular
90 rdf:type schema:DefinedTerm
91 N0c1757c14c6b4d1ba33ada27b86caa14 rdf:first sg:person.01036367335.40
92 rdf:rest rdf:nil
93 N0cb2f537cf5d409caef512b1c44c137d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Sequence Homology, Nucleic Acid
95 rdf:type schema:DefinedTerm
96 N0e4040a2c3ea473d9cd925ac92bb6c36 rdf:first sg:person.012315061302.94
97 rdf:rest N4d4c0a4f14ce46aa969f441e4fc17345
98 N1078795ad512469980dcc09a8e7713b9 schema:name Springer Nature - SN SciGraph project
99 rdf:type schema:Organization
100 N16eb62ed0b234c5fbb666fbde746afda schema:issueNumber 6
101 rdf:type schema:PublicationIssue
102 N1cdc810bb4884fd6ad5ccfa7bcc4caa4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Polymorphism, Single Nucleotide
104 rdf:type schema:DefinedTerm
105 N3a67ae85525941848eb32f2e1fa7a0f8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Pan paniscus
107 rdf:type schema:DefinedTerm
108 N4bf9011eb4ec4200aed14f76341f8272 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Pan troglodytes
110 rdf:type schema:DefinedTerm
111 N4d4c0a4f14ce46aa969f441e4fc17345 rdf:first sg:person.0604654434.69
112 rdf:rest Nf7f948cb2eef4f099151a86d8525dedd
113 N52ec628dd5c8448aa49854c905a3d26a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
114 schema:name Base Sequence
115 rdf:type schema:DefinedTerm
116 N5389a2819c3a4401a7a2f9ab80b5b1dd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Factor VII
118 rdf:type schema:DefinedTerm
119 N6bb92151a06049dea98496f41d69e568 schema:volumeNumber 118
120 rdf:type schema:PublicationVolume
121 N8539e973f0a34edaa9e36f1223e3ef85 rdf:first sg:person.0672207174.17
122 rdf:rest Nc4750e7f98594c1f9c172a589dab6f84
123 N93749f681ed341dfa781a8a500a7b316 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Gorilla gorilla
125 rdf:type schema:DefinedTerm
126 N9575e651857346bea0cec7eaa5fc66c4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Pongo pygmaeus
128 rdf:type schema:DefinedTerm
129 N9b84fde1228f41e99a208f1dd9cbbf1a rdf:first sg:person.0634057525.44
130 rdf:rest N0e4040a2c3ea473d9cd925ac92bb6c36
131 Na41a665c1a164017a02a3b4bbab5940c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Animals
133 rdf:type schema:DefinedTerm
134 Na4878151e2c24014b6f91024214ec179 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Phenotype
136 rdf:type schema:DefinedTerm
137 Nbe5dc96224294e408679b7b387fb6726 schema:name doi
138 schema:value 10.1007/s00439-005-0045-5
139 rdf:type schema:PropertyValue
140 Nc4750e7f98594c1f9c172a589dab6f84 rdf:first sg:person.01277267235.51
141 rdf:rest N0c1757c14c6b4d1ba33ada27b86caa14
142 Nc5dd849ff9d34fc6bc7fe70e9489d245 schema:name dimensions_id
143 schema:value pub.1011316019
144 rdf:type schema:PropertyValue
145 Ncc5de81cd45c4e209cc48bee54127e11 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name Phylogeny
147 rdf:type schema:DefinedTerm
148 Nda85f5198c6e4687a9b4a7705730ee65 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Molecular Sequence Data
150 rdf:type schema:DefinedTerm
151 Ndbe6afe560a043d8b4b2a82b25b6e4b4 schema:name pubmed_id
152 schema:value 16292673
153 rdf:type schema:PropertyValue
154 Ne5029e07aef04f61849250f45841faf4 schema:name readcube_id
155 schema:value 35ea02ca06bde5926154751f7b17da3a41cec823cbedd10e7e8bccd80c15fa9f
156 rdf:type schema:PropertyValue
157 Nf7f948cb2eef4f099151a86d8525dedd rdf:first sg:person.01347500074.21
158 rdf:rest N8539e973f0a34edaa9e36f1223e3ef85
159 Nf9caa55a45fb43cb875e897f29174e03 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Haplotypes
161 rdf:type schema:DefinedTerm
162 Nfd300aca0e774b95967589785411dcc7 schema:name nlm_unique_id
163 schema:value 7613873
164 rdf:type schema:PropertyValue
165 Nfd5164a1273a4a0194f399d4aa10d30d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Humans
167 rdf:type schema:DefinedTerm
168 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
169 schema:name Biological Sciences
170 rdf:type schema:DefinedTerm
171 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
172 schema:name Genetics
173 rdf:type schema:DefinedTerm
174 sg:grant.2538741 http://pending.schema.org/fundedItem sg:pub.10.1007/s00439-005-0045-5
175 rdf:type schema:MonetaryGrant
176 sg:journal.1085982 schema:issn 0340-6717
177 1432-1203
178 schema:name Human Genetics
179 rdf:type schema:Periodical
180 sg:person.01036367335.40 schema:affiliation https://www.grid.ac/institutes/grid.5612.0
181 schema:familyName Calafell
182 schema:givenName Francesc
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01036367335.40
184 rdf:type schema:Person
185 sg:person.012315061302.94 schema:affiliation https://www.grid.ac/institutes/grid.413396.a
186 schema:familyName Soria
187 schema:givenName José Manuel
188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012315061302.94
189 rdf:type schema:Person
190 sg:person.01277267235.51 schema:affiliation https://www.grid.ac/institutes/grid.413396.a
191 schema:familyName Fontcuberta
192 schema:givenName Jordi
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277267235.51
194 rdf:type schema:Person
195 sg:person.01347500074.21 schema:affiliation https://www.grid.ac/institutes/grid.250889.e
196 schema:familyName Almasy
197 schema:givenName Laura
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347500074.21
199 rdf:type schema:Person
200 sg:person.0604654434.69 schema:affiliation https://www.grid.ac/institutes/grid.5612.0
201 schema:familyName Bertranpetit
202 schema:givenName Jaume
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604654434.69
204 rdf:type schema:Person
205 sg:person.0634057525.44 schema:affiliation https://www.grid.ac/institutes/grid.413396.a
206 schema:familyName Sabater-Lleal
207 schema:givenName Maria
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634057525.44
209 rdf:type schema:Person
210 sg:person.0672207174.17 schema:affiliation https://www.grid.ac/institutes/grid.250889.e
211 schema:familyName Blangero
212 schema:givenName John
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672207174.17
214 rdf:type schema:Person
215 sg:pub.10.1007/s00239-004-2628-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044493022
216 https://doi.org/10.1007/s00239-004-2628-5
217 rdf:type schema:CreativeWork
218 sg:pub.10.1007/s00439-002-0763-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1043036873
219 https://doi.org/10.1007/s00439-002-0763-x
220 rdf:type schema:CreativeWork
221 sg:pub.10.1038/8760 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025942069
222 https://doi.org/10.1038/8760
223 rdf:type schema:CreativeWork
224 sg:pub.10.1038/ng917 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002365953
225 https://doi.org/10.1038/ng917
226 rdf:type schema:CreativeWork
227 sg:pub.10.1038/sj.ejhg.5200970 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032767274
228 https://doi.org/10.1038/sj.ejhg.5200970
229 rdf:type schema:CreativeWork
230 https://app.dimensions.ai/details/publication/pub.1074273157 schema:CreativeWork
231 https://app.dimensions.ai/details/publication/pub.1074369696 schema:CreativeWork
232 https://app.dimensions.ai/details/publication/pub.1074645492 schema:CreativeWork
233 https://app.dimensions.ai/details/publication/pub.1074662815 schema:CreativeWork
234 https://app.dimensions.ai/details/publication/pub.1075488204 schema:CreativeWork
235 https://app.dimensions.ai/details/publication/pub.1078754433 schema:CreativeWork
236 https://app.dimensions.ai/details/publication/pub.1082854388 schema:CreativeWork
237 https://app.dimensions.ai/details/publication/pub.1082892637 schema:CreativeWork
238 https://app.dimensions.ai/details/publication/pub.1083340310 schema:CreativeWork
239 https://doi.org/10.1002/1098-1004(2001)17:1<3::aid-humu2>3.0.co;2-v schema:sameAs https://app.dimensions.ai/details/publication/pub.1049199438
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1002/humu.9157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021289141
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1006/tpbi.1995.1026 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034328618
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1016/0022-2836(70)90057-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021169618
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1016/0140-6736(93)92062-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1026966608
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1016/j.tig.2004.05.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001182916
250 rdf:type schema:CreativeWork
251 https://doi.org/10.1046/j.1538-7836.2003.00424.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1046230561
252 rdf:type schema:CreativeWork
253 https://doi.org/10.1055/s-0038-1650323 schema:sameAs https://app.dimensions.ai/details/publication/pub.1082933745
254 rdf:type schema:CreativeWork
255 https://doi.org/10.1055/s-0038-1657519 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083107621
256 rdf:type schema:CreativeWork
257 https://doi.org/10.1056/nejm199801083380202 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010390850
258 rdf:type schema:CreativeWork
259 https://doi.org/10.1056/nejm200009143431104 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048692290
260 rdf:type schema:CreativeWork
261 https://doi.org/10.1073/pnas.74.12.5260 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024855021
262 rdf:type schema:CreativeWork
263 https://doi.org/10.1086/301977 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609569
264 rdf:type schema:CreativeWork
265 https://doi.org/10.1086/316903 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058621846
266 rdf:type schema:CreativeWork
267 https://doi.org/10.1086/318206 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058622340
268 rdf:type schema:CreativeWork
269 https://doi.org/10.1086/340610 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058638694
270 rdf:type schema:CreativeWork
271 https://doi.org/10.1093/bioinformatics/15.2.174 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024466567
272 rdf:type schema:CreativeWork
273 https://doi.org/10.1093/oxfordjournals.molbev.a003791 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026954818
274 rdf:type schema:CreativeWork
275 https://doi.org/10.1101/gr.146900 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029716143
276 rdf:type schema:CreativeWork
277 https://doi.org/10.1101/gr.gr-1677rr schema:sameAs https://app.dimensions.ai/details/publication/pub.1060407561
278 rdf:type schema:CreativeWork
279 https://doi.org/10.1101/sqb.2003.68.79 schema:sameAs https://app.dimensions.ai/details/publication/pub.1060416000
280 rdf:type schema:CreativeWork
281 https://doi.org/10.1126/science.1059431 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062444509
282 rdf:type schema:CreativeWork
283 https://doi.org/10.1126/science.1078311 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005962126
284 rdf:type schema:CreativeWork
285 https://doi.org/10.1161/01.atv.17.8.1539 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063334777
286 rdf:type schema:CreativeWork
287 https://doi.org/10.1161/01.atv.20.2.593 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052704681
288 rdf:type schema:CreativeWork
289 https://doi.org/10.1161/01.cir.101.13.1546 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035779849
290 rdf:type schema:CreativeWork
291 https://doi.org/10.1353/hub.2006.0006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053018481
292 rdf:type schema:CreativeWork
293 https://doi.org/10.1371/journal.pbio.0020286 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044097460
294 rdf:type schema:CreativeWork
295 https://doi.org/10.1371/journal.pbio.0030170 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004200208
296 rdf:type schema:CreativeWork
297 https://doi.org/10.1534/genetics.103.025726 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041113871
298 rdf:type schema:CreativeWork
299 https://www.grid.ac/institutes/grid.250889.e schema:alternateName Texas Biomedical Research Institute
300 schema:name Genetics Department, Southwest Foundation for Biomedical Research, San Antonio, Texas, USA
301 rdf:type schema:Organization
302 https://www.grid.ac/institutes/grid.413396.a schema:alternateName Hospital de Sant Pau
303 schema:name Unitat d’Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
304 rdf:type schema:Organization
305 https://www.grid.ac/institutes/grid.5612.0 schema:alternateName Pompeu Fabra University
306 schema:name Departament de Biologia Evolutiva, Universitat Pompeu Fabra, Doctor Aiguader 80, 08005, Barcelona, Catalonia, Spain
307 rdf:type schema:Organization
 




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


...