Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-02-07

AUTHORS

Maria Francesca Cardone, Zhaoshi Jiang, Pietro D'Addabbo, Nicoletta Archidiacono, Mariano Rocchi, Evan E Eichler, Mario Ventura

ABSTRACT

BackgroundChromosomal rearrangements, such as translocations and inversions, are recurrent phenomena during evolution, and both of them are involved in reproductive isolation and speciation. To better understand the molecular basis of chromosome rearrangements and their part in karyotype evolution, we have investigated the history of human chromosome 17 by comparative fluorescence in situ hybridization (FISH) and sequence analysis.ResultsHuman bacterial artificial chromosome/p1 artificial chromosome probes spanning the length of chromosome 17 were used in FISH experiments on great apes, Old World monkeys and New World monkeys to study the evolutionary history of this chromosome. We observed that the macaque marker order represents the ancestral organization. Human, chimpanzee and gorilla homologous chromosomes differ by a paracentric inversion that occurred specifically in the Homo sapiens/Pan troglodytes/Gorilla gorilla ancestor. Detailed analyses of the paracentric inversion revealed that the breakpoints mapped to two regions syntenic to human 17q12/21 and 17q23, both rich in segmental duplications.ConclusionSequence analyses of the human and macaque organization suggest that the duplication events occurred in the catarrhine ancestor with the duplication blocks continuing to duplicate or undergo gene conversion during evolution of the hominoid lineage. We propose that the presence of these duplicons has mediated the inversion in the H. sapiens/P. troglodytes/G. gorilla ancestor. Recently, the same duplication blocks have been shown to be polymorphic in the human population and to be involved in triggering microdeletion and duplication in human. These results further support a model where genomic architecture has a direct role in both rearrangement involved in karyotype evolution and genomic instability in human. More... »

PAGES

r28

References to SciGraph publications

  • 2001-02-15. A physical map of the human genome in NATURE
  • 2001-07. "Bar-coding" primate chromosomes: molecular cytogenetic screening for the ancestral hominoid karyotype in HUMAN GENETICS
  • 2006-04-01. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage in NATURE
  • 2002-09-05. Evolutionary history of chromosome 10 in primates in CHROMOSOMA
  • 2002-01. Segmental duplications and the evolution of the primate genome in NATURE REVIEWS GENETICS
  • 2004-10. Shotgun sequence assembly and recent segmental duplications within the human genome in NATURE
  • 2006-08-13. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome in NATURE GENETICS
  • 2002-10-09. Analysis of chromosome conservation in Lemur catta studied by chromosome paints and BAC/PAC probes in CHROMOSOMA
  • 2004-03-08. Hotspots of mammalian chromosomal evolution in GENOME BIOLOGY
  • 2003. Reconstruction of the ancestral karyotype of eutherian mammals in CHROMOSOME RESEARCH
  • 2000-01. Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion in NATURE GENETICS
  • 2007-10-07. Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution in NATURE GENETICS
  • 2006-08-13. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism in NATURE GENETICS
  • 2006-06-13. Primate segmental duplications: crucibles of evolution, diversity and disease in NATURE REVIEWS GENETICS
  • 2001-06-05. Evolution of mammalian genome organization inferred from comparative gene mapping in GENOME BIOLOGY
  • 2001-02. Molecular phylogenetics and the origins of placental mammals in NATURE
  • 2008-01-04. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15 in BMC GENOMIC DATA
  • 2006-08-13. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/gb-2008-9-2-r28

    DOI

    http://dx.doi.org/10.1186/gb-2008-9-2-r28

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1002278358

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/18257913


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Animals", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Cats", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosome Aberrations", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Artificial, Bacterial", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Chromosomes, Human, Pair 17", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Evolution, Molecular", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Haplorhini", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "In Situ Hybridization, Fluorescence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Karyotyping", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy", 
              "id": "http://www.grid.ac/institutes/grid.7644.1", 
              "name": [
                "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cardone", 
            "givenName": "Maria Francesca", 
            "id": "sg:person.01314575046.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314575046.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA", 
              "id": "http://www.grid.ac/institutes/grid.413575.1", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine and the Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA", 
                "Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jiang", 
            "givenName": "Zhaoshi", 
            "id": "sg:person.0731335333.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731335333.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy", 
              "id": "http://www.grid.ac/institutes/grid.7644.1", 
              "name": [
                "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "D'Addabbo", 
            "givenName": "Pietro", 
            "id": "sg:person.01317561617.87", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317561617.87"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy", 
              "id": "http://www.grid.ac/institutes/grid.7644.1", 
              "name": [
                "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Archidiacono", 
            "givenName": "Nicoletta", 
            "id": "sg:person.056410501.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.056410501.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy", 
              "id": "http://www.grid.ac/institutes/grid.7644.1", 
              "name": [
                "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rocchi", 
            "givenName": "Mariano", 
            "id": "sg:person.01021645746.17", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021645746.17"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA", 
              "id": "http://www.grid.ac/institutes/grid.413575.1", 
              "name": [
                "Department of Genome Sciences, University of Washington School of Medicine and the Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA", 
                "Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Eichler", 
            "givenName": "Evan E", 
            "id": "sg:person.0705101106.89", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy", 
              "id": "http://www.grid.ac/institutes/grid.7644.1", 
              "name": [
                "Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ventura", 
            "givenName": "Mario", 
            "id": "sg:person.0615524234.10", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615524234.10"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/nrg705", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008302356", 
              "https://doi.org/10.1038/nrg705"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00412-002-0205-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030251976", 
              "https://doi.org/10.1007/s00412-002-0205-5"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1853", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020061077", 
              "https://doi.org/10.1038/ng1853"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1858", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041756292", 
              "https://doi.org/10.1038/ng1858"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35057157", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012003820", 
              "https://doi.org/10.1038/35057157"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00412-002-0215-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035723060", 
              "https://doi.org/10.1007/s00412-002-0215-3"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2156-9-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053343198", 
              "https://doi.org/10.1186/1471-2156-9-2"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.2007.9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008279336", 
              "https://doi.org/10.1038/ng.2007.9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2004-5-4-r23", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025231468", 
              "https://doi.org/10.1186/gb-2004-5-4-r23"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature03062", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030291886", 
              "https://doi.org/10.1038/nature03062"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390100535", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1016304396", 
              "https://doi.org/10.1007/s004390100535"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/gb-2001-2-6-reviews0005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023010637", 
              "https://doi.org/10.1186/gb-2001-2-6-reviews0005"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/35054550", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034389621", 
              "https://doi.org/10.1038/35054550"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1023/a:1024957002755", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1040287582", 
              "https://doi.org/10.1023/a:1024957002755"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature04689", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046396456", 
              "https://doi.org/10.1038/nature04689"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/71743", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025954162", 
              "https://doi.org/10.1038/71743"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1862", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1047487757", 
              "https://doi.org/10.1038/ng1862"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nrg1895", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017304465", 
              "https://doi.org/10.1038/nrg1895"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2008-02-07", 
        "datePublishedReg": "2008-02-07", 
        "description": "BackgroundChromosomal rearrangements, such as translocations and inversions, are recurrent phenomena during evolution, and both of them are involved in reproductive isolation and speciation. To better understand the molecular basis of chromosome rearrangements and their part in karyotype evolution, we have investigated the history of human chromosome 17 by comparative fluorescence in situ hybridization (FISH) and sequence analysis.ResultsHuman bacterial artificial chromosome/p1 artificial chromosome probes spanning the length of chromosome 17 were used in FISH experiments on great apes, Old World monkeys and New World monkeys to study the evolutionary history of this chromosome. We observed that the macaque marker order represents the ancestral organization. Human, chimpanzee and gorilla homologous chromosomes differ by a paracentric inversion that occurred specifically in the Homo sapiens/Pan troglodytes/Gorilla gorilla ancestor. Detailed analyses of the paracentric inversion revealed that the breakpoints mapped to two regions syntenic to human 17q12/21 and 17q23, both rich in segmental duplications.ConclusionSequence analyses of the human and macaque organization suggest that the duplication events occurred in the catarrhine ancestor with the duplication blocks continuing to duplicate or undergo gene conversion during evolution of the hominoid lineage. We propose that the presence of these duplicons has mediated the inversion in the H. sapiens/P. troglodytes/G. gorilla ancestor. Recently, the same duplication blocks have been shown to be polymorphic in the human population and to be involved in triggering microdeletion and duplication in human. These results further support a model where genomic architecture has a direct role in both rearrangement involved in karyotype evolution and genomic instability in human.", 
        "genre": "article", 
        "id": "sg:pub.10.1186/gb-2008-9-2-r28", 
        "inLanguage": "en", 
        "isAccessibleForFree": true, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.3751666", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2516015", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1023439", 
            "issn": [
              "1474-760X", 
              "1465-6906"
            ], 
            "name": "Genome Biology", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "2", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "9"
          }
        ], 
        "keywords": [
          "karyotype evolution", 
          "duplication blocks", 
          "segmental duplications", 
          "paracentric inversion", 
          "chromosome 17", 
          "human chromosome 17", 
          "World monkeys", 
          "duplication events", 
          "reproductive isolation", 
          "region syntenic", 
          "catarrhine ancestors", 
          "genomic architecture", 
          "evolutionary history", 
          "homologous chromosomes", 
          "FISH experiments", 
          "ancestral organization", 
          "gene conversion", 
          "Old World monkeys", 
          "marker order", 
          "hominoid lineage", 
          "New World monkeys", 
          "chromosome rearrangements", 
          "genomic instability", 
          "molecular basis", 
          "chromosomal rearrangements", 
          "comparative fluorescence", 
          "sequence analysis", 
          "chromosome probes", 
          "situ hybridization", 
          "direct role", 
          "duplication", 
          "great apes", 
          "chromosomes", 
          "human population", 
          "ancestor", 
          "rearrangement", 
          "syntenic", 
          "duplicons", 
          "complex region", 
          "lineages", 
          "evolution", 
          "humans", 
          "recurrent phenomenon", 
          "translocation", 
          "speciation", 
          "hybridization", 
          "chimpanzees", 
          "apes", 
          "breakpoints", 
          "microdeletion", 
          "isolation", 
          "fluorescence", 
          "detailed analysis", 
          "role", 
          "population", 
          "analysis", 
          "probe", 
          "p.", 
          "region", 
          "monkeys", 
          "organization", 
          "events", 
          "presence", 
          "basis", 
          "G.", 
          "length", 
          "maps", 
          "inversion", 
          "conversion", 
          "experiments", 
          "pan", 
          "history", 
          "part", 
          "block", 
          "architecture", 
          "results", 
          "instability", 
          "phenomenon", 
          "order", 
          "model"
        ], 
        "name": "Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication", 
        "pagination": "r28", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1002278358"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/gb-2008-9-2-r28"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "18257913"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/gb-2008-9-2-r28", 
          "https://app.dimensions.ai/details/publication/pub.1002278358"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-05-20T07:25", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_466.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1186/gb-2008-9-2-r28"
      }
    ]
     

    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.10.1186/gb-2008-9-2-r28'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/gb-2008-9-2-r28'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/gb-2008-9-2-r28'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/gb-2008-9-2-r28'


     

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

    308 TRIPLES      22 PREDICATES      135 URIs      109 LITERALS      18 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/gb-2008-9-2-r28 schema:about N03a2e13efdf6496c8dec7f0494015891
    2 N0a2127f8012b4b60a471fd72548a4b57
    3 N1ff956eceb294f80b34be68212e8fb09
    4 N3c92dccf50594b6ea8b66a8ea99ee083
    5 N43f9866a2dc1462fa4f8d2d17f49b613
    6 N5d868725ee99454981a8cab538a04549
    7 N7b662481de6b44e191dd6dc1a3d07f1d
    8 Nacd75e89320341209b617e1568e71a72
    9 Ne10e3da8630f4f18a3d196ecda72147c
    10 Ne180206615fc4d98bc2b2b9c8bdbfc5c
    11 Neb41b25cacc84defa9fe2ab42092e238
    12 anzsrc-for:06
    13 anzsrc-for:0604
    14 schema:author Nfafc6c8c3f4f403ca60a0a25a17992cc
    15 schema:citation sg:pub.10.1007/s00412-002-0205-5
    16 sg:pub.10.1007/s00412-002-0215-3
    17 sg:pub.10.1007/s004390100535
    18 sg:pub.10.1023/a:1024957002755
    19 sg:pub.10.1038/35054550
    20 sg:pub.10.1038/35057157
    21 sg:pub.10.1038/71743
    22 sg:pub.10.1038/nature03062
    23 sg:pub.10.1038/nature04689
    24 sg:pub.10.1038/ng.2007.9
    25 sg:pub.10.1038/ng1853
    26 sg:pub.10.1038/ng1858
    27 sg:pub.10.1038/ng1862
    28 sg:pub.10.1038/nrg1895
    29 sg:pub.10.1038/nrg705
    30 sg:pub.10.1186/1471-2156-9-2
    31 sg:pub.10.1186/gb-2001-2-6-reviews0005
    32 sg:pub.10.1186/gb-2004-5-4-r23
    33 schema:datePublished 2008-02-07
    34 schema:datePublishedReg 2008-02-07
    35 schema:description BackgroundChromosomal rearrangements, such as translocations and inversions, are recurrent phenomena during evolution, and both of them are involved in reproductive isolation and speciation. To better understand the molecular basis of chromosome rearrangements and their part in karyotype evolution, we have investigated the history of human chromosome 17 by comparative fluorescence in situ hybridization (FISH) and sequence analysis.ResultsHuman bacterial artificial chromosome/p1 artificial chromosome probes spanning the length of chromosome 17 were used in FISH experiments on great apes, Old World monkeys and New World monkeys to study the evolutionary history of this chromosome. We observed that the macaque marker order represents the ancestral organization. Human, chimpanzee and gorilla homologous chromosomes differ by a paracentric inversion that occurred specifically in the Homo sapiens/Pan troglodytes/Gorilla gorilla ancestor. Detailed analyses of the paracentric inversion revealed that the breakpoints mapped to two regions syntenic to human 17q12/21 and 17q23, both rich in segmental duplications.ConclusionSequence analyses of the human and macaque organization suggest that the duplication events occurred in the catarrhine ancestor with the duplication blocks continuing to duplicate or undergo gene conversion during evolution of the hominoid lineage. We propose that the presence of these duplicons has mediated the inversion in the H. sapiens/P. troglodytes/G. gorilla ancestor. Recently, the same duplication blocks have been shown to be polymorphic in the human population and to be involved in triggering microdeletion and duplication in human. These results further support a model where genomic architecture has a direct role in both rearrangement involved in karyotype evolution and genomic instability in human.
    36 schema:genre article
    37 schema:inLanguage en
    38 schema:isAccessibleForFree true
    39 schema:isPartOf N773c4bd9756c4639a703e756e6ff0841
    40 N8a1b202389c64f95bee2e99cf9843c1d
    41 sg:journal.1023439
    42 schema:keywords FISH experiments
    43 G.
    44 New World monkeys
    45 Old World monkeys
    46 World monkeys
    47 analysis
    48 ancestor
    49 ancestral organization
    50 apes
    51 architecture
    52 basis
    53 block
    54 breakpoints
    55 catarrhine ancestors
    56 chimpanzees
    57 chromosomal rearrangements
    58 chromosome 17
    59 chromosome probes
    60 chromosome rearrangements
    61 chromosomes
    62 comparative fluorescence
    63 complex region
    64 conversion
    65 detailed analysis
    66 direct role
    67 duplication
    68 duplication blocks
    69 duplication events
    70 duplicons
    71 events
    72 evolution
    73 evolutionary history
    74 experiments
    75 fluorescence
    76 gene conversion
    77 genomic architecture
    78 genomic instability
    79 great apes
    80 history
    81 hominoid lineage
    82 homologous chromosomes
    83 human chromosome 17
    84 human population
    85 humans
    86 hybridization
    87 instability
    88 inversion
    89 isolation
    90 karyotype evolution
    91 length
    92 lineages
    93 maps
    94 marker order
    95 microdeletion
    96 model
    97 molecular basis
    98 monkeys
    99 order
    100 organization
    101 p.
    102 pan
    103 paracentric inversion
    104 part
    105 phenomenon
    106 population
    107 presence
    108 probe
    109 rearrangement
    110 recurrent phenomenon
    111 region
    112 region syntenic
    113 reproductive isolation
    114 results
    115 role
    116 segmental duplications
    117 sequence analysis
    118 situ hybridization
    119 speciation
    120 syntenic
    121 translocation
    122 schema:name Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication
    123 schema:pagination r28
    124 schema:productId N8f289eb79b46455dbb575bf604b67d63
    125 Nbcc03957561b4518a6c73470a3408479
    126 Nd56116dacc3c4fcfa71bdb7557c06e5a
    127 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002278358
    128 https://doi.org/10.1186/gb-2008-9-2-r28
    129 schema:sdDatePublished 2022-05-20T07:25
    130 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    131 schema:sdPublisher N2485a8615c5847bebd953afbbe543ea0
    132 schema:url https://doi.org/10.1186/gb-2008-9-2-r28
    133 sgo:license sg:explorer/license/
    134 sgo:sdDataset articles
    135 rdf:type schema:ScholarlyArticle
    136 N03a2e13efdf6496c8dec7f0494015891 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    137 schema:name Humans
    138 rdf:type schema:DefinedTerm
    139 N0a2127f8012b4b60a471fd72548a4b57 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    140 schema:name Animals
    141 rdf:type schema:DefinedTerm
    142 N1ff956eceb294f80b34be68212e8fb09 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    143 schema:name In Situ Hybridization, Fluorescence
    144 rdf:type schema:DefinedTerm
    145 N2485a8615c5847bebd953afbbe543ea0 schema:name Springer Nature - SN SciGraph project
    146 rdf:type schema:Organization
    147 N34858134f4ec4b35b0aab3a654660446 rdf:first sg:person.01317561617.87
    148 rdf:rest N52754903e22e47439cd2825ccc14fa0f
    149 N3c92dccf50594b6ea8b66a8ea99ee083 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    150 schema:name Chromosome Aberrations
    151 rdf:type schema:DefinedTerm
    152 N43f9866a2dc1462fa4f8d2d17f49b613 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    153 schema:name Chromosomes, Human, Pair 17
    154 rdf:type schema:DefinedTerm
    155 N52754903e22e47439cd2825ccc14fa0f rdf:first sg:person.056410501.58
    156 rdf:rest Nfb3b15af4eb340c59ef39f8239c3318e
    157 N5d868725ee99454981a8cab538a04549 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    158 schema:name Cats
    159 rdf:type schema:DefinedTerm
    160 N759b44965d5e4295a56253840e59272e rdf:first sg:person.0615524234.10
    161 rdf:rest rdf:nil
    162 N773c4bd9756c4639a703e756e6ff0841 schema:issueNumber 2
    163 rdf:type schema:PublicationIssue
    164 N7b662481de6b44e191dd6dc1a3d07f1d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    165 schema:name Haplorhini
    166 rdf:type schema:DefinedTerm
    167 N8a1b202389c64f95bee2e99cf9843c1d schema:volumeNumber 9
    168 rdf:type schema:PublicationVolume
    169 N8f289eb79b46455dbb575bf604b67d63 schema:name dimensions_id
    170 schema:value pub.1002278358
    171 rdf:type schema:PropertyValue
    172 Nacd75e89320341209b617e1568e71a72 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    173 schema:name Karyotyping
    174 rdf:type schema:DefinedTerm
    175 Nbcc03957561b4518a6c73470a3408479 schema:name doi
    176 schema:value 10.1186/gb-2008-9-2-r28
    177 rdf:type schema:PropertyValue
    178 Nd56116dacc3c4fcfa71bdb7557c06e5a schema:name pubmed_id
    179 schema:value 18257913
    180 rdf:type schema:PropertyValue
    181 Nd847f5f3a7604036a04ccd8c0b48e39b rdf:first sg:person.0705101106.89
    182 rdf:rest N759b44965d5e4295a56253840e59272e
    183 Ne10e3da8630f4f18a3d196ecda72147c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    184 schema:name Sequence Analysis, DNA
    185 rdf:type schema:DefinedTerm
    186 Ne180206615fc4d98bc2b2b9c8bdbfc5c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    187 schema:name Evolution, Molecular
    188 rdf:type schema:DefinedTerm
    189 Neb41b25cacc84defa9fe2ab42092e238 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    190 schema:name Chromosomes, Artificial, Bacterial
    191 rdf:type schema:DefinedTerm
    192 Neba79b9f23774ad1a9ff0c44999e9f50 rdf:first sg:person.0731335333.92
    193 rdf:rest N34858134f4ec4b35b0aab3a654660446
    194 Nfafc6c8c3f4f403ca60a0a25a17992cc rdf:first sg:person.01314575046.31
    195 rdf:rest Neba79b9f23774ad1a9ff0c44999e9f50
    196 Nfb3b15af4eb340c59ef39f8239c3318e rdf:first sg:person.01021645746.17
    197 rdf:rest Nd847f5f3a7604036a04ccd8c0b48e39b
    198 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    199 schema:name Biological Sciences
    200 rdf:type schema:DefinedTerm
    201 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    202 schema:name Genetics
    203 rdf:type schema:DefinedTerm
    204 sg:grant.2516015 http://pending.schema.org/fundedItem sg:pub.10.1186/gb-2008-9-2-r28
    205 rdf:type schema:MonetaryGrant
    206 sg:grant.3751666 http://pending.schema.org/fundedItem sg:pub.10.1186/gb-2008-9-2-r28
    207 rdf:type schema:MonetaryGrant
    208 sg:journal.1023439 schema:issn 1465-6906
    209 1474-760X
    210 schema:name Genome Biology
    211 schema:publisher Springer Nature
    212 rdf:type schema:Periodical
    213 sg:person.01021645746.17 schema:affiliation grid-institutes:grid.7644.1
    214 schema:familyName Rocchi
    215 schema:givenName Mariano
    216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021645746.17
    217 rdf:type schema:Person
    218 sg:person.01314575046.31 schema:affiliation grid-institutes:grid.7644.1
    219 schema:familyName Cardone
    220 schema:givenName Maria Francesca
    221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314575046.31
    222 rdf:type schema:Person
    223 sg:person.01317561617.87 schema:affiliation grid-institutes:grid.7644.1
    224 schema:familyName D'Addabbo
    225 schema:givenName Pietro
    226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317561617.87
    227 rdf:type schema:Person
    228 sg:person.056410501.58 schema:affiliation grid-institutes:grid.7644.1
    229 schema:familyName Archidiacono
    230 schema:givenName Nicoletta
    231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.056410501.58
    232 rdf:type schema:Person
    233 sg:person.0615524234.10 schema:affiliation grid-institutes:grid.7644.1
    234 schema:familyName Ventura
    235 schema:givenName Mario
    236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615524234.10
    237 rdf:type schema:Person
    238 sg:person.0705101106.89 schema:affiliation grid-institutes:grid.413575.1
    239 schema:familyName Eichler
    240 schema:givenName Evan E
    241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705101106.89
    242 rdf:type schema:Person
    243 sg:person.0731335333.92 schema:affiliation grid-institutes:grid.413575.1
    244 schema:familyName Jiang
    245 schema:givenName Zhaoshi
    246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0731335333.92
    247 rdf:type schema:Person
    248 sg:pub.10.1007/s00412-002-0205-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030251976
    249 https://doi.org/10.1007/s00412-002-0205-5
    250 rdf:type schema:CreativeWork
    251 sg:pub.10.1007/s00412-002-0215-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035723060
    252 https://doi.org/10.1007/s00412-002-0215-3
    253 rdf:type schema:CreativeWork
    254 sg:pub.10.1007/s004390100535 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016304396
    255 https://doi.org/10.1007/s004390100535
    256 rdf:type schema:CreativeWork
    257 sg:pub.10.1023/a:1024957002755 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040287582
    258 https://doi.org/10.1023/a:1024957002755
    259 rdf:type schema:CreativeWork
    260 sg:pub.10.1038/35054550 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034389621
    261 https://doi.org/10.1038/35054550
    262 rdf:type schema:CreativeWork
    263 sg:pub.10.1038/35057157 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012003820
    264 https://doi.org/10.1038/35057157
    265 rdf:type schema:CreativeWork
    266 sg:pub.10.1038/71743 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025954162
    267 https://doi.org/10.1038/71743
    268 rdf:type schema:CreativeWork
    269 sg:pub.10.1038/nature03062 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030291886
    270 https://doi.org/10.1038/nature03062
    271 rdf:type schema:CreativeWork
    272 sg:pub.10.1038/nature04689 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046396456
    273 https://doi.org/10.1038/nature04689
    274 rdf:type schema:CreativeWork
    275 sg:pub.10.1038/ng.2007.9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008279336
    276 https://doi.org/10.1038/ng.2007.9
    277 rdf:type schema:CreativeWork
    278 sg:pub.10.1038/ng1853 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020061077
    279 https://doi.org/10.1038/ng1853
    280 rdf:type schema:CreativeWork
    281 sg:pub.10.1038/ng1858 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041756292
    282 https://doi.org/10.1038/ng1858
    283 rdf:type schema:CreativeWork
    284 sg:pub.10.1038/ng1862 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047487757
    285 https://doi.org/10.1038/ng1862
    286 rdf:type schema:CreativeWork
    287 sg:pub.10.1038/nrg1895 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017304465
    288 https://doi.org/10.1038/nrg1895
    289 rdf:type schema:CreativeWork
    290 sg:pub.10.1038/nrg705 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008302356
    291 https://doi.org/10.1038/nrg705
    292 rdf:type schema:CreativeWork
    293 sg:pub.10.1186/1471-2156-9-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053343198
    294 https://doi.org/10.1186/1471-2156-9-2
    295 rdf:type schema:CreativeWork
    296 sg:pub.10.1186/gb-2001-2-6-reviews0005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023010637
    297 https://doi.org/10.1186/gb-2001-2-6-reviews0005
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1186/gb-2004-5-4-r23 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025231468
    300 https://doi.org/10.1186/gb-2004-5-4-r23
    301 rdf:type schema:CreativeWork
    302 grid-institutes:grid.413575.1 schema:alternateName Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA
    303 schema:name Department of Genome Sciences, University of Washington School of Medicine and the Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA
    304 Howard Hughes Medical Institute, NE Pacific Street, 98195, Seattle, Washington, USA
    305 rdf:type schema:Organization
    306 grid-institutes:grid.7644.1 schema:alternateName Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy
    307 schema:name Department of Genetics and Microbiology, University of Bari, Via Amendola, 70126, Bari, Italy
    308 rdf:type schema:Organization
     




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


    ...