A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-12

AUTHORS

Leonardo Murgiano, Imke Tammen, Barbara Harlizius, Cord Drögemüller

ABSTRACT

BACKGROUND: About 9% of the offspring of a clinically healthy Piétrain boar named 'Campus' showed a progressive postural tremor called Campus syndrome (CPS). Extensive backcross experiments suggested a dominant mode of inheritance, and the founder boar was believed to be a gonadal mosaic. A genome-scan mapped the disease-causing mutation to an 8 cM region of porcine chromosome 7 containing the MHY7 gene. Human distal myopathy type 1 (MPD1), a disease partially resembling CPS in pigs, has been associated with mutations in the MYH7 gene. RESULTS: The porcine MYH7 gene structure was predicted based on porcine reference genome sequence, porcine mRNA, and in comparison to the human ortholog. The gene structure was highly conserved with the exception of the first exon. Mutation analysis of a contiguous genomic interval of more than 22 kb spanning the complete MYH7 gene revealed an in-frame insertion within exon 30 of MYH7 (c.4320_4321insCCCGCC) which was perfectly associated with the disease phenotype and confirmed the dominant inheritance. The mutation is predicted to insert two amino acids (p.Ala1440_Ala1441insProAla) in a very highly conserved region of the myosin tail. The boar 'Campus' was shown to be a germline and somatic mosaic as assessed by the presence of the mutant allele in seven different organs. CONCLUSION: This study illustrates the usefulness of recently established genomic resources in pigs. We have identified a spontaneous mutation in MYH7 as the causative mutation for CPS. This paper describes the first case of a disorder caused by a naturally occurring mutation in the MYH7 gene of a non-human mammalian species. Our study confirms the previous classification as a primary myopathy and provides a defined large animal model for human MPD1. We provide evidence that the CPS mutation occurred during the early development of the boar 'Campus'. Therefore, this study provides an example of germline mosaicism with an asymptomatic founder. More... »

PAGES

99

References to SciGraph publications

  • 1988-07. Force measurements by micromanipulation of a single actin filament by glass needles in NATURE
  • 1998-04. Germ line mosaicism in HUMAN GENETICS
  • 2008. Spidey in ENCYCLOPEDIA OF GENETICS, GENOMICS, PROTEOMICS AND INFORMATICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1471-2156-13-99

    DOI

    http://dx.doi.org/10.1186/1471-2156-13-99

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1025217675

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23153285


    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": "Amino Acid Sequence", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Animals", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Exons", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Germ-Line Mutation", 
            "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": "Muscular Diseases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutagenesis, Insertional", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Myosin Heavy Chains", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Phenotype", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Swine", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "University of Bern", 
              "id": "https://www.grid.ac/institutes/grid.5734.5", 
              "name": [
                "Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Murgiano", 
            "givenName": "Leonardo", 
            "id": "sg:person.0646204234.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646204234.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Sydney", 
              "id": "https://www.grid.ac/institutes/grid.1013.3", 
              "name": [
                "ReproGen, Faculty of Veterinary Science, The University of Sydney, 2570, Camden, NSW, Australia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tammen", 
            "givenName": "Imke", 
            "id": "sg:person.01236216231.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01236216231.02"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Topigs Norsvin (Netherlands)", 
              "id": "https://www.grid.ac/institutes/grid.435361.6", 
              "name": [
                "Institute for Pig Genetics BV, PO Box 43, 6640, Beuningen, AA, The Netherlands"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Harlizius", 
            "givenName": "Barbara", 
            "id": "sg:person.01252406170.67", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252406170.67"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Bern", 
              "id": "https://www.grid.ac/institutes/grid.5734.5", 
              "name": [
                "Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dr\u00f6gem\u00fcller", 
            "givenName": "Cord", 
            "id": "sg:person.0730067573.50", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730067573.50"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1007/978-1-4020-6754-9_15973", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000930428", 
              "https://doi.org/10.1007/978-1-4020-6754-9_15973"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/jhered/90.4.472", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1001480072"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddq315", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002659733"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.yjmcc.2009.10.011", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003475132"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.nmd.2007.02.008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004538614"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jnnp.2005.073825", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007084322"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050708", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008088929", 
              "https://doi.org/10.1007/s004390050708"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004390050708", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008088929", 
              "https://doi.org/10.1007/s004390050708"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.92.9.3864", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008365849"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.nmd.2007.02.007", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009607369"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/hh0302.104532", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012167350"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1073/pnas.0900107106", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013934497"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.nmd.2010.12.011", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021119959"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jsb.2006.03.009", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022519099"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1006/exnr.1995.1050", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023544926"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1161/circulationaha.107.746164", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023943234"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/cbic.200300781", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025584391"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/b978-0-08-057133-1.50010-2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034515495"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1006/jmbi.2000.3866", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039547705"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.nmd.2008.11.012", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1042491553"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.jacc.2004.04.039", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046290174"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/334074a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050990343", 
              "https://doi.org/10.1038/334074a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1086/424760", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1058713909"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1139089", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062455274"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1126/science.1862346", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1062510917"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1212/01.wnl.0000264430.55233.72", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064349269"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1212/01.wnl.0000264430.55233.72", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064349269"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1212/01.wnl.0000264430.55233.72", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1064349269"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1075238031", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1076981677", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1081659854", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1082533624", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/9780471650126.dob0560.pub2", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1090239289"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2012-12", 
        "datePublishedReg": "2012-12-01", 
        "description": "BACKGROUND: About 9% of the offspring of a clinically healthy Pi\u00e9train boar named 'Campus' showed a progressive postural tremor called Campus syndrome (CPS). Extensive backcross experiments suggested a dominant mode of inheritance, and the founder boar was believed to be a gonadal mosaic. A genome-scan mapped the disease-causing mutation to an 8 cM region of porcine chromosome 7 containing the MHY7 gene. Human distal myopathy type 1 (MPD1), a disease partially resembling CPS in pigs, has been associated with mutations in the MYH7 gene.\nRESULTS: The porcine MYH7 gene structure was predicted based on porcine reference genome sequence, porcine mRNA, and in comparison to the human ortholog. The gene structure was highly conserved with the exception of the first exon. Mutation analysis of a contiguous genomic interval of more than 22 kb spanning the complete MYH7 gene revealed an in-frame insertion within exon 30 of MYH7 (c.4320_4321insCCCGCC) which was perfectly associated with the disease phenotype and confirmed the dominant inheritance. The mutation is predicted to insert two amino acids (p.Ala1440_Ala1441insProAla) in a very highly conserved region of the myosin tail. The boar 'Campus' was shown to be a germline and somatic mosaic as assessed by the presence of the mutant allele in seven different organs.\nCONCLUSION: This study illustrates the usefulness of recently established genomic resources in pigs. We have identified a spontaneous mutation in MYH7 as the causative mutation for CPS. This paper describes the first case of a disorder caused by a naturally occurring mutation in the MYH7 gene of a non-human mammalian species. Our study confirms the previous classification as a primary myopathy and provides a defined large animal model for human MPD1. We provide evidence that the CPS mutation occurred during the early development of the boar 'Campus'. Therefore, this study provides an example of germline mosaicism with an asymptomatic founder.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/1471-2156-13-99", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1024251", 
            "issn": [
              "1471-2156"
            ], 
            "name": "BMC Genetics", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "13"
          }
        ], 
        "name": "A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs", 
        "pagination": "99", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "782322e16b5bdaf8005f7b9bebcbc6d41be672cbcd88cdc1cbbf41f476f27de3"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "23153285"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "100966978"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/1471-2156-13-99"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1025217675"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/1471-2156-13-99", 
          "https://app.dimensions.ai/details/publication/pub.1025217675"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-10T19:55", 
        "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/v90/0000000001_0000000264/records_8681_00000505.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "http://link.springer.com/10.1186%2F1471-2156-13-99"
      }
    ]
     

    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.10.1186/1471-2156-13-99'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-13-99'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-13-99'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1471-2156-13-99'


     

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

    228 TRIPLES      21 PREDICATES      70 URIs      32 LITERALS      20 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/1471-2156-13-99 schema:about N0e36a03046324c22866117770f0266b4
    2 N14dbabc9526e45b79383e5df91419b78
    3 N1ee02c68622b4fdcb89bda6e0f0a2278
    4 N494bb69119a245cdad761e201397ea51
    5 N5d05a9d646af41e48ce5a5e3efc89d0a
    6 N6c804e9a1e2d4bee832d12dd1661a8dd
    7 N6d6d19dd4ee64f19b234c6581e12be3f
    8 N8723c253f54f49b1972d516e04827f6e
    9 Na0533282209b4313ba6d62c11acd8475
    10 Nb2001dbc69354113bd5304a7c4ff30e8
    11 Nb499040a753b40ee9af6a0cbbae7619f
    12 anzsrc-for:06
    13 anzsrc-for:0604
    14 schema:author Nf9e94df6202f44f4bd12a297833b11a8
    15 schema:citation sg:pub.10.1007/978-1-4020-6754-9_15973
    16 sg:pub.10.1007/s004390050708
    17 sg:pub.10.1038/334074a0
    18 https://app.dimensions.ai/details/publication/pub.1075238031
    19 https://app.dimensions.ai/details/publication/pub.1076981677
    20 https://app.dimensions.ai/details/publication/pub.1081659854
    21 https://app.dimensions.ai/details/publication/pub.1082533624
    22 https://doi.org/10.1002/9780471650126.dob0560.pub2
    23 https://doi.org/10.1002/cbic.200300781
    24 https://doi.org/10.1006/exnr.1995.1050
    25 https://doi.org/10.1006/jmbi.2000.3866
    26 https://doi.org/10.1016/b978-0-08-057133-1.50010-2
    27 https://doi.org/10.1016/j.jacc.2004.04.039
    28 https://doi.org/10.1016/j.jsb.2006.03.009
    29 https://doi.org/10.1016/j.nmd.2007.02.007
    30 https://doi.org/10.1016/j.nmd.2007.02.008
    31 https://doi.org/10.1016/j.nmd.2008.11.012
    32 https://doi.org/10.1016/j.nmd.2010.12.011
    33 https://doi.org/10.1016/j.yjmcc.2009.10.011
    34 https://doi.org/10.1073/pnas.0900107106
    35 https://doi.org/10.1073/pnas.92.9.3864
    36 https://doi.org/10.1086/424760
    37 https://doi.org/10.1093/hmg/ddq315
    38 https://doi.org/10.1093/jhered/90.4.472
    39 https://doi.org/10.1126/science.1139089
    40 https://doi.org/10.1126/science.1862346
    41 https://doi.org/10.1136/jnnp.2005.073825
    42 https://doi.org/10.1161/circulationaha.107.746164
    43 https://doi.org/10.1161/hh0302.104532
    44 https://doi.org/10.1212/01.wnl.0000264430.55233.72
    45 schema:datePublished 2012-12
    46 schema:datePublishedReg 2012-12-01
    47 schema:description BACKGROUND: About 9% of the offspring of a clinically healthy Piétrain boar named 'Campus' showed a progressive postural tremor called Campus syndrome (CPS). Extensive backcross experiments suggested a dominant mode of inheritance, and the founder boar was believed to be a gonadal mosaic. A genome-scan mapped the disease-causing mutation to an 8 cM region of porcine chromosome 7 containing the MHY7 gene. Human distal myopathy type 1 (MPD1), a disease partially resembling CPS in pigs, has been associated with mutations in the MYH7 gene. RESULTS: The porcine MYH7 gene structure was predicted based on porcine reference genome sequence, porcine mRNA, and in comparison to the human ortholog. The gene structure was highly conserved with the exception of the first exon. Mutation analysis of a contiguous genomic interval of more than 22 kb spanning the complete MYH7 gene revealed an in-frame insertion within exon 30 of MYH7 (c.4320_4321insCCCGCC) which was perfectly associated with the disease phenotype and confirmed the dominant inheritance. The mutation is predicted to insert two amino acids (p.Ala1440_Ala1441insProAla) in a very highly conserved region of the myosin tail. The boar 'Campus' was shown to be a germline and somatic mosaic as assessed by the presence of the mutant allele in seven different organs. CONCLUSION: This study illustrates the usefulness of recently established genomic resources in pigs. We have identified a spontaneous mutation in MYH7 as the causative mutation for CPS. This paper describes the first case of a disorder caused by a naturally occurring mutation in the MYH7 gene of a non-human mammalian species. Our study confirms the previous classification as a primary myopathy and provides a defined large animal model for human MPD1. We provide evidence that the CPS mutation occurred during the early development of the boar 'Campus'. Therefore, this study provides an example of germline mosaicism with an asymptomatic founder.
    48 schema:genre research_article
    49 schema:inLanguage en
    50 schema:isAccessibleForFree true
    51 schema:isPartOf N2bb171b7f876428fa44fc8f65c827eac
    52 N8e978cfa3f684a85b6762eb6a60a81b4
    53 sg:journal.1024251
    54 schema:name A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs
    55 schema:pagination 99
    56 schema:productId N401f9629bd4b4a8bba9d7d7fa36801cd
    57 N500574e558a04679bbec77aab1e1f8d0
    58 N6ae9651ba90746b18685d31176aa445c
    59 Ndf45cfa13568433995c0d53b89448993
    60 Nf3b765a10c40475badd2c8018999bf47
    61 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025217675
    62 https://doi.org/10.1186/1471-2156-13-99
    63 schema:sdDatePublished 2019-04-10T19:55
    64 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    65 schema:sdPublisher N69180e22c507432088633ae6e59841a0
    66 schema:url http://link.springer.com/10.1186%2F1471-2156-13-99
    67 sgo:license sg:explorer/license/
    68 sgo:sdDataset articles
    69 rdf:type schema:ScholarlyArticle
    70 N0e36a03046324c22866117770f0266b4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    71 schema:name Germ-Line Mutation
    72 rdf:type schema:DefinedTerm
    73 N14dbabc9526e45b79383e5df91419b78 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    74 schema:name Phenotype
    75 rdf:type schema:DefinedTerm
    76 N1ee02c68622b4fdcb89bda6e0f0a2278 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    77 schema:name Muscular Diseases
    78 rdf:type schema:DefinedTerm
    79 N2bb171b7f876428fa44fc8f65c827eac schema:volumeNumber 13
    80 rdf:type schema:PublicationVolume
    81 N401f9629bd4b4a8bba9d7d7fa36801cd schema:name dimensions_id
    82 schema:value pub.1025217675
    83 rdf:type schema:PropertyValue
    84 N494bb69119a245cdad761e201397ea51 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    85 schema:name Mutagenesis, Insertional
    86 rdf:type schema:DefinedTerm
    87 N4d86bea7b46e4ea5a09cf788509b993b rdf:first sg:person.01252406170.67
    88 rdf:rest N773d3580a39941d5ab7de6bf1fb05732
    89 N500574e558a04679bbec77aab1e1f8d0 schema:name readcube_id
    90 schema:value 782322e16b5bdaf8005f7b9bebcbc6d41be672cbcd88cdc1cbbf41f476f27de3
    91 rdf:type schema:PropertyValue
    92 N5d05a9d646af41e48ce5a5e3efc89d0a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    93 schema:name Exons
    94 rdf:type schema:DefinedTerm
    95 N69180e22c507432088633ae6e59841a0 schema:name Springer Nature - SN SciGraph project
    96 rdf:type schema:Organization
    97 N6ae9651ba90746b18685d31176aa445c schema:name pubmed_id
    98 schema:value 23153285
    99 rdf:type schema:PropertyValue
    100 N6c804e9a1e2d4bee832d12dd1661a8dd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    101 schema:name Myosin Heavy Chains
    102 rdf:type schema:DefinedTerm
    103 N6d6d19dd4ee64f19b234c6581e12be3f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    104 schema:name Amino Acid Sequence
    105 rdf:type schema:DefinedTerm
    106 N773d3580a39941d5ab7de6bf1fb05732 rdf:first sg:person.0730067573.50
    107 rdf:rest rdf:nil
    108 N8723c253f54f49b1972d516e04827f6e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    109 schema:name Molecular Sequence Data
    110 rdf:type schema:DefinedTerm
    111 N8e978cfa3f684a85b6762eb6a60a81b4 schema:issueNumber 1
    112 rdf:type schema:PublicationIssue
    113 Na0533282209b4313ba6d62c11acd8475 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    114 schema:name Animals
    115 rdf:type schema:DefinedTerm
    116 Nb2001dbc69354113bd5304a7c4ff30e8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    117 schema:name Humans
    118 rdf:type schema:DefinedTerm
    119 Nb499040a753b40ee9af6a0cbbae7619f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    120 schema:name Swine
    121 rdf:type schema:DefinedTerm
    122 Ndf45cfa13568433995c0d53b89448993 schema:name nlm_unique_id
    123 schema:value 100966978
    124 rdf:type schema:PropertyValue
    125 Ne051307783304506bce8183257143fbb rdf:first sg:person.01236216231.02
    126 rdf:rest N4d86bea7b46e4ea5a09cf788509b993b
    127 Nf3b765a10c40475badd2c8018999bf47 schema:name doi
    128 schema:value 10.1186/1471-2156-13-99
    129 rdf:type schema:PropertyValue
    130 Nf9e94df6202f44f4bd12a297833b11a8 rdf:first sg:person.0646204234.18
    131 rdf:rest Ne051307783304506bce8183257143fbb
    132 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    133 schema:name Biological Sciences
    134 rdf:type schema:DefinedTerm
    135 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    136 schema:name Genetics
    137 rdf:type schema:DefinedTerm
    138 sg:journal.1024251 schema:issn 1471-2156
    139 schema:name BMC Genetics
    140 rdf:type schema:Periodical
    141 sg:person.01236216231.02 schema:affiliation https://www.grid.ac/institutes/grid.1013.3
    142 schema:familyName Tammen
    143 schema:givenName Imke
    144 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01236216231.02
    145 rdf:type schema:Person
    146 sg:person.01252406170.67 schema:affiliation https://www.grid.ac/institutes/grid.435361.6
    147 schema:familyName Harlizius
    148 schema:givenName Barbara
    149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252406170.67
    150 rdf:type schema:Person
    151 sg:person.0646204234.18 schema:affiliation https://www.grid.ac/institutes/grid.5734.5
    152 schema:familyName Murgiano
    153 schema:givenName Leonardo
    154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646204234.18
    155 rdf:type schema:Person
    156 sg:person.0730067573.50 schema:affiliation https://www.grid.ac/institutes/grid.5734.5
    157 schema:familyName Drögemüller
    158 schema:givenName Cord
    159 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0730067573.50
    160 rdf:type schema:Person
    161 sg:pub.10.1007/978-1-4020-6754-9_15973 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000930428
    162 https://doi.org/10.1007/978-1-4020-6754-9_15973
    163 rdf:type schema:CreativeWork
    164 sg:pub.10.1007/s004390050708 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008088929
    165 https://doi.org/10.1007/s004390050708
    166 rdf:type schema:CreativeWork
    167 sg:pub.10.1038/334074a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050990343
    168 https://doi.org/10.1038/334074a0
    169 rdf:type schema:CreativeWork
    170 https://app.dimensions.ai/details/publication/pub.1075238031 schema:CreativeWork
    171 https://app.dimensions.ai/details/publication/pub.1076981677 schema:CreativeWork
    172 https://app.dimensions.ai/details/publication/pub.1081659854 schema:CreativeWork
    173 https://app.dimensions.ai/details/publication/pub.1082533624 schema:CreativeWork
    174 https://doi.org/10.1002/9780471650126.dob0560.pub2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090239289
    175 rdf:type schema:CreativeWork
    176 https://doi.org/10.1002/cbic.200300781 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025584391
    177 rdf:type schema:CreativeWork
    178 https://doi.org/10.1006/exnr.1995.1050 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023544926
    179 rdf:type schema:CreativeWork
    180 https://doi.org/10.1006/jmbi.2000.3866 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039547705
    181 rdf:type schema:CreativeWork
    182 https://doi.org/10.1016/b978-0-08-057133-1.50010-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034515495
    183 rdf:type schema:CreativeWork
    184 https://doi.org/10.1016/j.jacc.2004.04.039 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046290174
    185 rdf:type schema:CreativeWork
    186 https://doi.org/10.1016/j.jsb.2006.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022519099
    187 rdf:type schema:CreativeWork
    188 https://doi.org/10.1016/j.nmd.2007.02.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009607369
    189 rdf:type schema:CreativeWork
    190 https://doi.org/10.1016/j.nmd.2007.02.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004538614
    191 rdf:type schema:CreativeWork
    192 https://doi.org/10.1016/j.nmd.2008.11.012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042491553
    193 rdf:type schema:CreativeWork
    194 https://doi.org/10.1016/j.nmd.2010.12.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021119959
    195 rdf:type schema:CreativeWork
    196 https://doi.org/10.1016/j.yjmcc.2009.10.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003475132
    197 rdf:type schema:CreativeWork
    198 https://doi.org/10.1073/pnas.0900107106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013934497
    199 rdf:type schema:CreativeWork
    200 https://doi.org/10.1073/pnas.92.9.3864 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008365849
    201 rdf:type schema:CreativeWork
    202 https://doi.org/10.1086/424760 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058713909
    203 rdf:type schema:CreativeWork
    204 https://doi.org/10.1093/hmg/ddq315 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002659733
    205 rdf:type schema:CreativeWork
    206 https://doi.org/10.1093/jhered/90.4.472 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001480072
    207 rdf:type schema:CreativeWork
    208 https://doi.org/10.1126/science.1139089 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062455274
    209 rdf:type schema:CreativeWork
    210 https://doi.org/10.1126/science.1862346 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062510917
    211 rdf:type schema:CreativeWork
    212 https://doi.org/10.1136/jnnp.2005.073825 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007084322
    213 rdf:type schema:CreativeWork
    214 https://doi.org/10.1161/circulationaha.107.746164 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023943234
    215 rdf:type schema:CreativeWork
    216 https://doi.org/10.1161/hh0302.104532 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012167350
    217 rdf:type schema:CreativeWork
    218 https://doi.org/10.1212/01.wnl.0000264430.55233.72 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064349269
    219 rdf:type schema:CreativeWork
    220 https://www.grid.ac/institutes/grid.1013.3 schema:alternateName University of Sydney
    221 schema:name ReproGen, Faculty of Veterinary Science, The University of Sydney, 2570, Camden, NSW, Australia
    222 rdf:type schema:Organization
    223 https://www.grid.ac/institutes/grid.435361.6 schema:alternateName Topigs Norsvin (Netherlands)
    224 schema:name Institute for Pig Genetics BV, PO Box 43, 6640, Beuningen, AA, The Netherlands
    225 rdf:type schema:Organization
    226 https://www.grid.ac/institutes/grid.5734.5 schema:alternateName University of Bern
    227 schema:name Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland
    228 rdf:type schema:Organization
     




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


    ...