Your browser doesn't support javascript.
loading
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
Ivansson, Emma L; Megquier, Kate; Kozyrev, Sergey V; Murén, Eva; Körberg, Izabella Baranowska; Swofford, Ross; Koltookian, Michele; Tonomura, Noriko; Zeng, Rong; Kolicheski, Ana L; Hansen, Liz; Katz, Martin L; Johnson, Gayle C; Johnson, Gary S; Coates, Joan R; Lindblad-Toh, Kerstin.
Afiliación
  • Ivansson EL; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, 751 23 Uppsala, Sweden; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142; emma.ivansson@ki.se kersli@broadinstitute.org.
  • Megquier K; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, 751 23 Uppsala, Sweden; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142;
  • Kozyrev SV; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, 751 23 Uppsala, Sweden;
  • Murén E; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, 751 23 Uppsala, Sweden;
  • Körberg IB; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 750 07 Uppsala, Sweden;
  • Swofford R; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142;
  • Koltookian M; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142;
  • Tonomura N; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142; Department of Clinical Sciences, Cummings School of Veterinary Medicine at Tufts University, North Grafton, MA 01536;
  • Zeng R; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211;
  • Kolicheski AL; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211;
  • Hansen L; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211;
  • Katz ML; Mason Eye Institute, School of Medicine, University of Missouri, Columbia, MO 65201;
  • Johnson GC; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211;
  • Johnson GS; Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211;
  • Coates JR; Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211.
  • Lindblad-Toh K; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, 751 23 Uppsala, Sweden; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142; emma.ivansson@ki.se kersli@broadinstitute.org.
Proc Natl Acad Sci U S A ; 113(22): E3091-100, 2016 May 31.
Article en En | MEDLINE | ID: mdl-27185954
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 × 10(-5)), and was associated with increased probability of developing DM (P = 4.8 × 10(-6)) and earlier onset of disease (P = 1.7 × 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.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Médula Espinal / Superóxido Dismutasa / Proteínas Nucleares / Enfermedades Neurodegenerativas / Enfermedades de los Perros / Enfermedades Musculares / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de la Médula Espinal / Superóxido Dismutasa / Proteínas Nucleares / Enfermedades Neurodegenerativas / Enfermedades de los Perros / Enfermedades Musculares / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos