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1000 Titel
  • Genome-wide association identifies TBX5 as candidate gene for osteochondrosis providing a functional link to cartilage perfusion as initial factor
1000 Autor/in
  1. Rangkasenee, Noppawan |
  2. Murani, Eduard |
  3. Brunner, Ronald M. |
  4. Schellander, Karl |
  5. Cinar, Mehmet Ulas |
  6. Luther, Henning |
  7. Hofer, Andreas |
  8. Stoll, Monika |
  9. Witten, Anika |
  10. Ponsuksili, Siriluck |
  11. Wimmers, Klaus |
1000 Erscheinungsjahr 2013
1000 Art der Datei
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2013-05-10
1000 Erschienen in
1000 Quellenangabe
  • 4: 78
1000 FRL-Sammlung
1000 Copyrightjahr
  • 2013
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.3389/fgene.2013.00078 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3650520/ |
1000 Ergänzendes Material
  • http://journal.frontiersin.org/article/10.3389/fgene.2013.00078/full#h8 |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Osteochondrosis (OC) is an orthopedic syndrome of the joints that occurs in children and adolescents and domestic animals, particularly pigs, horses, and dogs. OC is the most frequent cause of leg weakness in rapidly growing pigs causing animal welfare issues and economic losses. In this study, a genome-wide association study (GWAS) was performed using the Porcine 60k SNPChip in animals of the breed Large White (n = 298) to identify chromosome regions and candidate genes associated with OC lesion scores. A total of 19 SNPs on chromosomes (SSC) 3, 5, 8, 10, 14, and 18 were significantly associated with OC lesion scores (p-values ≤ 10−5). The SNPs MARC0098684, MARC00840086, MARC0093124, and ASGA0062794 at SSC14 36.1–38.2 Mb encompass a region of six linkage disequilibrium (LD) blocks. The most significant SNP ASGA0062794 is located in a LD block spanning 465 kb and covering the gene encoding T-box transcription factor 5 (TBX5). A SNP (c.54T > C) identified in TBX5 was significantly associated with OC lesion scores in a single-marker analysis. TBX5 c.54T > C showed highest LD with ASGA00627974 (r2 = 0.96) and superior association with OC lesion scores over other SNPs when included in the genome scan, whereas its treatment as an additional fixed effect in the GWAS statistical model led to a drop of significance of nearby markers. Moreover, real-time PCR showed different transcript abundance of TBX5 in healthy and defect cartilage. The results imply that the association signal obtained on SCC14 is largely attributable to TBX5 c.54T > C likely to be in LD with a regulatory polymorphism of TBX5. The transcription factor TBX5 interacts with GJA5 and MEF2C both being involved in vascularization. This study provides evidence for epistatic interaction of TBX5 and MEF2C, thus supporting deficiency of blood supply to growth cartilage as being fundamental for the initiation of OC.
1000 Sacherschließung
lokal pigs
lokal epistatis
lokal leg weakness
lokal polymorphism
lokal genome-wide association
lokal osteochondrosis
1000 Fachgruppe
  1. Agrarwissenschaften |
  2. Biologie |
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
  1. https://frl.publisso.de/adhoc/creator/UmFuZ2thc2VuZWUswqBOb3BwYXdhbg==|https://frl.publisso.de/adhoc/creator/TXVyYW5pLMKgRWR1YXJk|https://frl.publisso.de/adhoc/creator/QnJ1bm5lcizCoFJvbmFsZCBNLg==|https://frl.publisso.de/adhoc/creator/U2NoZWxsYW5kZXIswqBLYXJs|https://frl.publisso.de/adhoc/creator/Q2luYXIswqBNZWhtZXQgVWxhcw==|https://frl.publisso.de/adhoc/creator/THV0aGVyLMKgSGVubmluZw==|https://frl.publisso.de/adhoc/creator/SG9mZXIswqBBbmRyZWFz|https://frl.publisso.de/adhoc/creator/U3RvbGwswqBNb25pa2E=|https://frl.publisso.de/adhoc/creator/V2l0dGVuLMKgQW5pa2E=|https://frl.publisso.de/adhoc/creator/UG9uc3Vrc2lsaSzCoFNpcmlsdWNr|http://orcid.org/0000-0002-9523-6790
1000 Label
1000 Förderer
  1. German Federal Ministry of Education and Research (BMBF) |
  2. Association for Biotechnology Research (FBF) |
1000 Fördernummer
  1. FKZ 0315135B
  2. -
1000 Förderprogramm
  1. FUGATOplus – GeneFL
  2. -
1000 Dateien
1000 Förderung
  1. 1000 joinedFunding-child
    1000 Förderer German Federal Ministry of Education and Research (BMBF) |
    1000 Förderprogramm FUGATOplus – GeneFL
    1000 Fördernummer FKZ 0315135B
  2. 1000 joinedFunding-child
    1000 Förderer Association for Biotechnology Research (FBF) |
    1000 Förderprogramm -
    1000 Fördernummer -
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6404582.rdf
1000 Erstellt am 2017-09-22T11:31:22.150+0200
1000 Erstellt von 218
1000 beschreibt frl:6404582
1000 Bearbeitet von 218
1000 Zuletzt bearbeitet Thu Jan 30 20:43:57 CET 2020
1000 Objekt bearb. Wed May 16 12:55:17 CEST 2018
1000 Vgl. frl:6404582
1000 Oai Id
  1. oai:frl.publisso.de:frl:6404582 |
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