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  • Ivansson, Emma L.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA.;Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden. (author)

Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • 2016-05-16
  • Proceedings of the National Academy of Sciences,2016
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-298872
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-298872URI
  • https://doi.org/10.1073/pnas.1600084113DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:133686175URI
  • https://res.slu.se/id/publ/82840URI

Supplementary language notes

  • Language:English
  • Summary in:English &language:-1_t

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Canine degenerative myelopathy (DM) is a naturally occurring neurodegenerative disease with similarities to some forms of amyotrophic lateral sclerosis (ALS). Most dogs that develop DM are homozygous for a common superoxide dismutase 1 gene (SOD1) mutation. However, not all dogs homozygous for this mutation develop disease. We performed a genome-wide association analysis in the Pembroke Welsh Corgi (PWC) breed comparing DM-affected and -unaffected dogs homozygous for the SOD1 mutation. The analysis revealed a modifier locus on canine chromosome 25. A haplotype within the SP110 nuclear body protein (SP110) was present in 40% of affected compared with 4% of unaffected dogs (P = 1.5 x 10(-5)), and was associated with increased probability of developing DM (P = 4.8 x 10(-6)) and earlier onset of disease (P = 1.7 x 10(-5)). SP110 is a nuclear body protein involved in the regulation of gene transcription. Our findings suggest that variations in SP110-mediated gene transcription may underlie, at least in part, the variability in risk for developing DM among PWCs that are homozygous for the disease-related SOD1 mutation. Further studies are warranted to clarify the effect of this modifier across dog breeds.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Megquier, KateUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA.(Swepub:uu)katme400 (author)
  • Kozyrev, Sergey V.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)sekoz957 (author)
  • Murén, EvaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)evmur020 (author)
  • Korberg, Izabella BaranowskaSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics(Swepub:slu)52825 (author)
  • Swofford, RossBroad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA. (author)
  • Koltookian, MicheleBroad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA. (author)
  • Tonomura, NorikoBroad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA.;Tufts Univ, Sch Vet Med, Dept Clin Sci, 200 Westboro Rd, North Grafton, MA 01536 USA. (author)
  • Zeng, RongUniv Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA. (author)
  • Kolicheski, Ana L.Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA. (author)
  • Hansen, LizUniv Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA. (author)
  • Katz, Martin L.Univ Missouri, Sch Med, Mason Eye Inst, Columbia, MO 65201 USA. (author)
  • Johnson, Gayle C.Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA. (author)
  • Johnson, Gary S.Univ Missouri, Coll Vet Med, Dept Vet Pathobiol, Columbia, MO 65211 USA. (author)
  • Coates, Joan R.Univ Missouri, Coll Vet Med, Dept Vet Med & Surg, Columbia, MO 65211 USA. (author)
  • Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA.(Swepub:uu)kerli865 (author)
  • Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)
  • Sveriges lantbruksuniversitet

Related titles

  • In:Proceedings of the National Academy of Sciences of the United States of America: Proceedings of the National Academy of Sciences113:22, s. E3091-E31000027-84241091-6490

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