Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-11

AUTHORS

Sjoerd Repping, Helen Skaletsky, Laura Brown, Saskia K M van Daalen, Cindy M Korver, Tatyana Pyntikova, Tomoko Kuroda-Kawaguchi, Jan W A de Vries, Robert D Oates, Sherman Silber, Fulco van der Veen, David C Page, Steve Rozen

ABSTRACT

Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. Here we report a 1.6-Mb deletion that persists over generations and is sufficiently common to be considered a polymorphism. We hypothesized that this deletion might affect spermatogenesis because it removes almost half of the Y chromosome's AZFc region, a gene-rich segment that is critical for sperm production. An association study established that this deletion, called gr/gr, is a significant risk factor for spermatogenic failure. The gr/gr deletion has far lower penetrance with respect to spermatogenic failure than previously characterized Y-chromosomal deletions; it is often transmitted from father to son. By studying the distribution of gr/gr-deleted chromosomes across the branches of the Y chromosome's genealogical tree, we determined that this deletion arose independently at least 14 times in human history. We suggest that the existence of this deletion as a polymorphism reflects a balance between haploid selection, which culls gr/gr-deleted Y chromosomes from the population, and homologous recombination, which continues to generate new gr/gr deletions. More... »

PAGES

247-251

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1250

DOI

http://dx.doi.org/10.1038/ng1250

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026532531

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14528305


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": "Chromosome Deletion", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Y", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Haploidy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Genetic", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.", 
            "Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, the Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Repping", 
        "givenName": "Sjoerd", 
        "id": "sg:person.01072732504.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072732504.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts Institute of Technology", 
          "id": "https://www.grid.ac/institutes/grid.116068.8", 
          "name": [
            "Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Skaletsky", 
        "givenName": "Helen", 
        "id": "sg:person.01266753034.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266753034.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts Institute of Technology", 
          "id": "https://www.grid.ac/institutes/grid.116068.8", 
          "name": [
            "Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brown", 
        "givenName": "Laura", 
        "id": "sg:person.012271742572.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012271742572.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, the Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "van Daalen", 
        "givenName": "Saskia K M", 
        "id": "sg:person.01317155170.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317155170.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, the Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Korver", 
        "givenName": "Cindy M", 
        "id": "sg:person.0661134776.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661134776.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts Institute of Technology", 
          "id": "https://www.grid.ac/institutes/grid.116068.8", 
          "name": [
            "Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pyntikova", 
        "givenName": "Tatyana", 
        "id": "sg:person.01224563513.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224563513.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Tokyo Dental College", 
          "id": "https://www.grid.ac/institutes/grid.265070.6", 
          "name": [
            "Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.", 
            "Reproduction Center, Tokyo Dental College, Ichikawa General Hospital, Ichikawa, Chiba, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kuroda-Kawaguchi", 
        "givenName": "Tomoko", 
        "id": "sg:person.0702641052.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0702641052.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, the Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "de Vries", 
        "givenName": "Jan W A", 
        "id": "sg:person.07535702512.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07535702512.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Boston Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.239424.a", 
          "name": [
            "Department of Urology, Boston University Medical Center, Boston, Massachusetts 02118, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Oates", 
        "givenName": "Robert D", 
        "id": "sg:person.01111611776.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111611776.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "St. Luke's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.416489.6", 
          "name": [
            "Infertility Center of St. Louis, St. Luke's Hospital, St. Louis, Missouri 63017, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Silber", 
        "givenName": "Sherman", 
        "id": "sg:person.01270344172.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270344172.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Academic Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.5650.6", 
          "name": [
            "Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, the Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "van der Veen", 
        "givenName": "Fulco", 
        "id": "sg:person.01024617304.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024617304.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts Institute of Technology", 
          "id": "https://www.grid.ac/institutes/grid.116068.8", 
          "name": [
            "Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Page", 
        "givenName": "David C", 
        "id": "sg:person.01224407762.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224407762.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Massachusetts Institute of Technology", 
          "id": "https://www.grid.ac/institutes/grid.116068.8", 
          "name": [
            "Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rozen", 
        "givenName": "Steve", 
        "id": "sg:person.013130175037.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013130175037.28"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf02982403", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001404630", 
          "https://doi.org/10.1007/bf02982403"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf02982403", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001404630", 
          "https://doi.org/10.1007/bf02982403"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/81685", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005509970", 
          "https://doi.org/10.1038/81685"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/81685", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005509970", 
          "https://doi.org/10.1038/81685"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1101-243", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011208394", 
          "https://doi.org/10.1038/ng1101-243"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1101-243", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011208394", 
          "https://doi.org/10.1038/ng1101-243"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/5.11.1767", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014674023"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s100380200035", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015244121", 
          "https://doi.org/10.1007/s100380200035"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0895-383", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022756729", 
          "https://doi.org/10.1038/ng0895-383"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0015-0282(01)02935-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023914198"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.2000.6260", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025844430"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.hmg.a018920", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027663004"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.37.10.752", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028788216"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/molehr/8.3.286", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030413477"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature01722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032168678", 
          "https://doi.org/10.1038/nature01722"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature01722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032168678", 
          "https://doi.org/10.1038/nature01722"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/5.7.933", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032542838"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.molbev.a003906", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033541908"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.217602", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035051487"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s100380050162", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035810224", 
          "https://doi.org/10.1007/s100380050162"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1469-1809.2001.6510043.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036287683"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8652(199812)59:4<288::aid-ajh4>3.0.co;2-i", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037909988"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35057170", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039691728", 
          "https://doi.org/10.1038/35057170"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35057170", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039691728", 
          "https://doi.org/10.1038/35057170"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng757", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040986528", 
          "https://doi.org/10.1038/ng757"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng757", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040986528", 
          "https://doi.org/10.1038/ng757"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/humrep/17.11.2813", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044107503"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0003-3995(01)01078-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046431220"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/9.17.2563", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051205660"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg1124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052209628", 
          "https://doi.org/10.1038/nrg1124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg1124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052209628", 
          "https://doi.org/10.1038/nrg1124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/342928", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058639600"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1060011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062444946"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.8.12.1229", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083369514"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2003-11", 
    "datePublishedReg": "2003-11-01", 
    "description": "Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. Here we report a 1.6-Mb deletion that persists over generations and is sufficiently common to be considered a polymorphism. We hypothesized that this deletion might affect spermatogenesis because it removes almost half of the Y chromosome's AZFc region, a gene-rich segment that is critical for sperm production. An association study established that this deletion, called gr/gr, is a significant risk factor for spermatogenic failure. The gr/gr deletion has far lower penetrance with respect to spermatogenic failure than previously characterized Y-chromosomal deletions; it is often transmitted from father to son. By studying the distribution of gr/gr-deleted chromosomes across the branches of the Y chromosome's genealogical tree, we determined that this deletion arose independently at least 14 times in human history. We suggest that the existence of this deletion as a polymorphism reflects a balance between haploid selection, which culls gr/gr-deleted Y chromosomes from the population, and homologous recombination, which continues to generate new gr/gr deletions.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1250", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "35"
      }
    ], 
    "name": "Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection", 
    "pagination": "247-251", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "7e670c8b985975f6a86f135d12b1fcabb6bf3184e3b4d9e7f177dfc572ce9f09"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "14528305"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1250"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1026532531"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1250", 
      "https://app.dimensions.ai/details/publication/pub.1026532531"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:11", 
    "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/v90/0000000361_0000000361/records_53984_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1250"
  }
]
 

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.10.1038/ng1250'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng1250'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1250'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1250'


 

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

290 TRIPLES      21 PREDICATES      64 URIs      29 LITERALS      17 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1250 schema:about N00628fb4cdac49418de3197153ce5535
2 N0c8027de639244c08abbb171d1655607
3 N0d08075269854173b7b8513ff762e8d1
4 N42c2e7bf05534ca5a45d11a55da9a4cc
5 N4b47c24030ee4ab9ae24c596447c5cf2
6 N6e5efc638d874788b16bd65e8407d3f3
7 Nf2ba604782984336ac060d0a48296cbd
8 Nf6731532c89c45ec8f5eecca3b8ccb71
9 anzsrc-for:06
10 anzsrc-for:0604
11 schema:author N657743fd01b2489aad913ce1e2668b78
12 schema:citation sg:pub.10.1007/bf02982403
13 sg:pub.10.1007/s100380050162
14 sg:pub.10.1007/s100380200035
15 sg:pub.10.1038/35057170
16 sg:pub.10.1038/81685
17 sg:pub.10.1038/nature01722
18 sg:pub.10.1038/ng0895-383
19 sg:pub.10.1038/ng1101-243
20 sg:pub.10.1038/ng757
21 sg:pub.10.1038/nrg1124
22 https://doi.org/10.1002/(sici)1096-8652(199812)59:4<288::aid-ajh4>3.0.co;2-i
23 https://doi.org/10.1006/geno.2000.6260
24 https://doi.org/10.1016/s0003-3995(01)01078-4
25 https://doi.org/10.1016/s0015-0282(01)02935-1
26 https://doi.org/10.1046/j.1469-1809.2001.6510043.x
27 https://doi.org/10.1086/342928
28 https://doi.org/10.1093/hmg/5.11.1767
29 https://doi.org/10.1093/hmg/5.7.933
30 https://doi.org/10.1093/hmg/9.17.2563
31 https://doi.org/10.1093/humrep/17.11.2813
32 https://doi.org/10.1093/molehr/8.3.286
33 https://doi.org/10.1093/oxfordjournals.hmg.a018920
34 https://doi.org/10.1093/oxfordjournals.molbev.a003906
35 https://doi.org/10.1101/gr.217602
36 https://doi.org/10.1101/gr.8.12.1229
37 https://doi.org/10.1126/science.1060011
38 https://doi.org/10.1136/jmg.37.10.752
39 schema:datePublished 2003-11
40 schema:datePublishedReg 2003-11-01
41 schema:description Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. Here we report a 1.6-Mb deletion that persists over generations and is sufficiently common to be considered a polymorphism. We hypothesized that this deletion might affect spermatogenesis because it removes almost half of the Y chromosome's AZFc region, a gene-rich segment that is critical for sperm production. An association study established that this deletion, called gr/gr, is a significant risk factor for spermatogenic failure. The gr/gr deletion has far lower penetrance with respect to spermatogenic failure than previously characterized Y-chromosomal deletions; it is often transmitted from father to son. By studying the distribution of gr/gr-deleted chromosomes across the branches of the Y chromosome's genealogical tree, we determined that this deletion arose independently at least 14 times in human history. We suggest that the existence of this deletion as a polymorphism reflects a balance between haploid selection, which culls gr/gr-deleted Y chromosomes from the population, and homologous recombination, which continues to generate new gr/gr deletions.
42 schema:genre research_article
43 schema:inLanguage en
44 schema:isAccessibleForFree false
45 schema:isPartOf N064dc3acf3944d079f67909d4901e0a5
46 N177ba643bd5842be9541fb674631209f
47 sg:journal.1103138
48 schema:name Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection
49 schema:pagination 247-251
50 schema:productId N0bf8530f8b9f441c84e662971b0f95fb
51 N1dae7941404c48c1bd9c723869a94e93
52 N1ff924bb946d4ce781c4b1a4bbe8933b
53 N3338ef7e3b5b473d8f5b1e67b43c7d2e
54 Nc04c569d030e483d9a4aeb7dbbc432b6
55 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026532531
56 https://doi.org/10.1038/ng1250
57 schema:sdDatePublished 2019-04-11T12:11
58 schema:sdLicense https://scigraph.springernature.com/explorer/license/
59 schema:sdPublisher N40bfc4c3566545d69c94a3298cd7a07b
60 schema:url http://www.nature.com/articles/ng1250
61 sgo:license sg:explorer/license/
62 sgo:sdDataset articles
63 rdf:type schema:ScholarlyArticle
64 N00628fb4cdac49418de3197153ce5535 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Chromosomes, Human, Y
66 rdf:type schema:DefinedTerm
67 N064dc3acf3944d079f67909d4901e0a5 schema:volumeNumber 35
68 rdf:type schema:PublicationVolume
69 N0bf8530f8b9f441c84e662971b0f95fb schema:name readcube_id
70 schema:value 7e670c8b985975f6a86f135d12b1fcabb6bf3184e3b4d9e7f177dfc572ce9f09
71 rdf:type schema:PropertyValue
72 N0c8027de639244c08abbb171d1655607 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name Male
74 rdf:type schema:DefinedTerm
75 N0d08075269854173b7b8513ff762e8d1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Polymorphism, Genetic
77 rdf:type schema:DefinedTerm
78 N177ba643bd5842be9541fb674631209f schema:issueNumber 3
79 rdf:type schema:PublicationIssue
80 N195bb535493648a28af1759d417f982d rdf:first sg:person.013130175037.28
81 rdf:rest rdf:nil
82 N1dae7941404c48c1bd9c723869a94e93 schema:name doi
83 schema:value 10.1038/ng1250
84 rdf:type schema:PropertyValue
85 N1ff924bb946d4ce781c4b1a4bbe8933b schema:name nlm_unique_id
86 schema:value 9216904
87 rdf:type schema:PropertyValue
88 N3338ef7e3b5b473d8f5b1e67b43c7d2e schema:name dimensions_id
89 schema:value pub.1026532531
90 rdf:type schema:PropertyValue
91 N40bfc4c3566545d69c94a3298cd7a07b schema:name Springer Nature - SN SciGraph project
92 rdf:type schema:Organization
93 N42c2e7bf05534ca5a45d11a55da9a4cc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Chromosome Deletion
95 rdf:type schema:DefinedTerm
96 N4b47c24030ee4ab9ae24c596447c5cf2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Humans
98 rdf:type schema:DefinedTerm
99 N633646a7560d4cd6baa49ed73271e0b3 rdf:first sg:person.0661134776.92
100 rdf:rest Nfa22ba49dd1943508a01ea1c8558ac09
101 N657743fd01b2489aad913ce1e2668b78 rdf:first sg:person.01072732504.52
102 rdf:rest Nebd1ff870b724d1aab4f8efeb3c9d7cd
103 N66b8bbd86fcd46028f0592c1b5c78aef rdf:first sg:person.07535702512.39
104 rdf:rest Ndcff781212c049d192389fb680f276c7
105 N6e5efc638d874788b16bd65e8407d3f3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Molecular Sequence Data
107 rdf:type schema:DefinedTerm
108 N7aaa7498f9d14f089acc34f2b7c001e6 rdf:first sg:person.01024617304.24
109 rdf:rest N7e9940f8e5584dae92a1430c8d4ee4c7
110 N7e9940f8e5584dae92a1430c8d4ee4c7 rdf:first sg:person.01224407762.64
111 rdf:rest N195bb535493648a28af1759d417f982d
112 Nac0b7a70356b4e91af3a2c0ca066b61b rdf:first sg:person.01317155170.51
113 rdf:rest N633646a7560d4cd6baa49ed73271e0b3
114 Nb2088cc27cd44b0aa141a33a798636f5 rdf:first sg:person.012271742572.52
115 rdf:rest Nac0b7a70356b4e91af3a2c0ca066b61b
116 Nb91de22856764389b3206c3e219c1773 rdf:first sg:person.01270344172.00
117 rdf:rest N7aaa7498f9d14f089acc34f2b7c001e6
118 Nc04c569d030e483d9a4aeb7dbbc432b6 schema:name pubmed_id
119 schema:value 14528305
120 rdf:type schema:PropertyValue
121 Nc9e1172470874a90b33c41a3529ce87d rdf:first sg:person.0702641052.21
122 rdf:rest N66b8bbd86fcd46028f0592c1b5c78aef
123 Ndcff781212c049d192389fb680f276c7 rdf:first sg:person.01111611776.37
124 rdf:rest Nb91de22856764389b3206c3e219c1773
125 Nebd1ff870b724d1aab4f8efeb3c9d7cd rdf:first sg:person.01266753034.97
126 rdf:rest Nb2088cc27cd44b0aa141a33a798636f5
127 Nf2ba604782984336ac060d0a48296cbd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Haploidy
129 rdf:type schema:DefinedTerm
130 Nf6731532c89c45ec8f5eecca3b8ccb71 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Mutation
132 rdf:type schema:DefinedTerm
133 Nfa22ba49dd1943508a01ea1c8558ac09 rdf:first sg:person.01224563513.92
134 rdf:rest Nc9e1172470874a90b33c41a3529ce87d
135 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
136 schema:name Biological Sciences
137 rdf:type schema:DefinedTerm
138 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
139 schema:name Genetics
140 rdf:type schema:DefinedTerm
141 sg:journal.1103138 schema:issn 1061-4036
142 1546-1718
143 schema:name Nature Genetics
144 rdf:type schema:Periodical
145 sg:person.01024617304.24 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
146 schema:familyName van der Veen
147 schema:givenName Fulco
148 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01024617304.24
149 rdf:type schema:Person
150 sg:person.01072732504.52 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
151 schema:familyName Repping
152 schema:givenName Sjoerd
153 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01072732504.52
154 rdf:type schema:Person
155 sg:person.01111611776.37 schema:affiliation https://www.grid.ac/institutes/grid.239424.a
156 schema:familyName Oates
157 schema:givenName Robert D
158 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01111611776.37
159 rdf:type schema:Person
160 sg:person.01224407762.64 schema:affiliation https://www.grid.ac/institutes/grid.116068.8
161 schema:familyName Page
162 schema:givenName David C
163 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224407762.64
164 rdf:type schema:Person
165 sg:person.01224563513.92 schema:affiliation https://www.grid.ac/institutes/grid.116068.8
166 schema:familyName Pyntikova
167 schema:givenName Tatyana
168 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224563513.92
169 rdf:type schema:Person
170 sg:person.012271742572.52 schema:affiliation https://www.grid.ac/institutes/grid.116068.8
171 schema:familyName Brown
172 schema:givenName Laura
173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012271742572.52
174 rdf:type schema:Person
175 sg:person.01266753034.97 schema:affiliation https://www.grid.ac/institutes/grid.116068.8
176 schema:familyName Skaletsky
177 schema:givenName Helen
178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266753034.97
179 rdf:type schema:Person
180 sg:person.01270344172.00 schema:affiliation https://www.grid.ac/institutes/grid.416489.6
181 schema:familyName Silber
182 schema:givenName Sherman
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270344172.00
184 rdf:type schema:Person
185 sg:person.013130175037.28 schema:affiliation https://www.grid.ac/institutes/grid.116068.8
186 schema:familyName Rozen
187 schema:givenName Steve
188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013130175037.28
189 rdf:type schema:Person
190 sg:person.01317155170.51 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
191 schema:familyName van Daalen
192 schema:givenName Saskia K M
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317155170.51
194 rdf:type schema:Person
195 sg:person.0661134776.92 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
196 schema:familyName Korver
197 schema:givenName Cindy M
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661134776.92
199 rdf:type schema:Person
200 sg:person.0702641052.21 schema:affiliation https://www.grid.ac/institutes/grid.265070.6
201 schema:familyName Kuroda-Kawaguchi
202 schema:givenName Tomoko
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0702641052.21
204 rdf:type schema:Person
205 sg:person.07535702512.39 schema:affiliation https://www.grid.ac/institutes/grid.5650.6
206 schema:familyName de Vries
207 schema:givenName Jan W A
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07535702512.39
209 rdf:type schema:Person
210 sg:pub.10.1007/bf02982403 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001404630
211 https://doi.org/10.1007/bf02982403
212 rdf:type schema:CreativeWork
213 sg:pub.10.1007/s100380050162 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035810224
214 https://doi.org/10.1007/s100380050162
215 rdf:type schema:CreativeWork
216 sg:pub.10.1007/s100380200035 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015244121
217 https://doi.org/10.1007/s100380200035
218 rdf:type schema:CreativeWork
219 sg:pub.10.1038/35057170 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039691728
220 https://doi.org/10.1038/35057170
221 rdf:type schema:CreativeWork
222 sg:pub.10.1038/81685 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005509970
223 https://doi.org/10.1038/81685
224 rdf:type schema:CreativeWork
225 sg:pub.10.1038/nature01722 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032168678
226 https://doi.org/10.1038/nature01722
227 rdf:type schema:CreativeWork
228 sg:pub.10.1038/ng0895-383 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022756729
229 https://doi.org/10.1038/ng0895-383
230 rdf:type schema:CreativeWork
231 sg:pub.10.1038/ng1101-243 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011208394
232 https://doi.org/10.1038/ng1101-243
233 rdf:type schema:CreativeWork
234 sg:pub.10.1038/ng757 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040986528
235 https://doi.org/10.1038/ng757
236 rdf:type schema:CreativeWork
237 sg:pub.10.1038/nrg1124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052209628
238 https://doi.org/10.1038/nrg1124
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1002/(sici)1096-8652(199812)59:4<288::aid-ajh4>3.0.co;2-i schema:sameAs https://app.dimensions.ai/details/publication/pub.1037909988
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1006/geno.2000.6260 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025844430
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1016/s0003-3995(01)01078-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046431220
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1016/s0015-0282(01)02935-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023914198
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1046/j.1469-1809.2001.6510043.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1036287683
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1086/342928 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058639600
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1093/hmg/5.11.1767 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014674023
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1093/hmg/5.7.933 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032542838
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1093/hmg/9.17.2563 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051205660
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1093/humrep/17.11.2813 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044107503
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1093/molehr/8.3.286 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030413477
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1093/oxfordjournals.hmg.a018920 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027663004
263 rdf:type schema:CreativeWork
264 https://doi.org/10.1093/oxfordjournals.molbev.a003906 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033541908
265 rdf:type schema:CreativeWork
266 https://doi.org/10.1101/gr.217602 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035051487
267 rdf:type schema:CreativeWork
268 https://doi.org/10.1101/gr.8.12.1229 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083369514
269 rdf:type schema:CreativeWork
270 https://doi.org/10.1126/science.1060011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062444946
271 rdf:type schema:CreativeWork
272 https://doi.org/10.1136/jmg.37.10.752 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028788216
273 rdf:type schema:CreativeWork
274 https://www.grid.ac/institutes/grid.116068.8 schema:alternateName Massachusetts Institute of Technology
275 schema:name Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.
276 rdf:type schema:Organization
277 https://www.grid.ac/institutes/grid.239424.a schema:alternateName Boston Medical Center
278 schema:name Department of Urology, Boston University Medical Center, Boston, Massachusetts 02118, USA.
279 rdf:type schema:Organization
280 https://www.grid.ac/institutes/grid.265070.6 schema:alternateName Tokyo Dental College
281 schema:name Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.
282 Reproduction Center, Tokyo Dental College, Ichikawa General Hospital, Ichikawa, Chiba, Japan.
283 rdf:type schema:Organization
284 https://www.grid.ac/institutes/grid.416489.6 schema:alternateName St. Luke's Hospital
285 schema:name Infertility Center of St. Louis, St. Luke's Hospital, St. Louis, Missouri 63017, USA.
286 rdf:type schema:Organization
287 https://www.grid.ac/institutes/grid.5650.6 schema:alternateName Academic Medical Center
288 schema:name Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, the Netherlands.
289 Howard Hughes Medical Institute, Whitehead Institute and Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.
290 rdf:type schema:Organization
 




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


...