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

Emma L. Ivansson, Kate Megquier, Sergey V. Kozyrev, Eva Murén, Izabella Baranowska Körberg, Ross Swofford, Michele Koltookian, Noriko Tonomura, Rong Zeng, Ana L. Kolicheski, Liz Hansen, Martin L. Katz, Gayle C. Johnson, Gary S. Johnson, Joan R. Coates, and Kerstin Lindblad-Toh
PNAS May 31, 2016 113 (22) E3091-E3100; published ahead of print May 16, 2016 https://doi.org/10.1073/pnas.1600084113

  1. Edited by Stephen T. Warren, Emory University School of Medicine, Atlanta, GA, and approved April 15, 2016 (received for review January 7, 2016)

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Article Information

vol. 113 no. 22 E3091-E3100
DOI: 
https://doi.org/10.1073/pnas.1600084113
PubMed: 
27185954
Published By: 
National Academy of Sciences
Print ISSN: 
0027-8424
Online ISSN: 
1091-6490
History: 
  • Published in issue May 31, 2016.
  • Published first May 16, 2016.
Copyright & Usage: 
Freely available online through the PNAS open access option.

Author Information

  1. Emma L. Ivanssona,b,1,2,
  2. Kate Megquiera,b,
  3. Sergey V. Kozyreva,
  4. Eva Muréna,
  5. Izabella Baranowska Körbergc,3,
  6. Ross Swoffordb,
  7. Michele Koltookianb,
  8. Noriko Tonomurab,d,
  9. Rong Zenge,
  10. Ana L. Kolicheskie,
  11. Liz Hansene,
  12. Martin L. Katzf,
  13. Gayle C. Johnsone,
  14. Gary S. Johnsone,
  15. Joan R. Coatesg, and
  16. Kerstin Lindblad-Toha,b,1
  1. aScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, 751 23 Uppsala, Sweden;
  2. bBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142;
  3. cDepartment of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 750 07 Uppsala, Sweden;
  4. dDepartment of Clinical Sciences, Cummings School of Veterinary Medicine at Tufts University, North Grafton, MA 01536;
  5. eDepartment of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211;
  6. fMason Eye Institute, School of Medicine, University of Missouri, Columbia, MO 65201;
  7. gDepartment of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211

  1. Edited by Stephen T. Warren, Emory University School of Medicine, Atlanta, GA, and approved April 15, 2016 (received for review January 7, 2016)

Footnotes

  • ↵1To whom correspondence may be addressed. Email: emma.ivansson{at}ki.se or kersli{at}broadinstitute.org.

  • ↵2Present address: Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 171 77, Stockholm, Sweden.

  • ↵3Present address: Department of Women’s and Children’s Health, Karolinska Institutet, Karolinska University Hospital Solna, 171 76, Stockholm, Sweden.

  • Author contributions: E.L.I. and K.L.-T. designed research; E.L.I., K.M., S.V.K., E.M., I.B.K., R.S., M.K., N.T., R.Z., A.L.K., L.H., M.L.K., G.C.J., G.S.J., J.R.C., and K.L.-T. performed research; E.L.I., K.M., and S.V.K. analyzed data; and E.L.I. and K.M. wrote the paper.

  • Conflict of interest statement: A DNA test to identify dogs at risk of developing degenerative myelopathy is the subject of four awarded patents (European Patent 2247752, Australian Patent 2009212473, Japanese Patent 5584916, and Mexico Patent 326951) and one pending patent application (Canada Patent 2,714,393). Three of the coauthors (G.S.J., J.R.C., and K.L.-T.) are co-inventors listed on these patents and patent applications. A patent application was filed as to certain subject matter of this manuscript.

  • This article is a PNAS Direct Submission.

  • Data deposition: The National Center for Biotechnology Information (NCBI) Gene Expression Omnibus (GEO) www.ncbi.nlm.nih.gov/geo accession numbers for the genome-wide association data presented in this paper are GSE80735 (PWC) and GSE80315 (Boxer). The NCBI Single Nucleotide Polymorphism Database (dbSNP) accession numbers for the Illumina MiSeq-detected variants reported in this paper are 1987230493–1987230525. The NCBI Sequence Read Archive (SRA) accession numbers for the whole-genome sequences of three PWCs reported in this paper are SRX745862–SRX745864. The GenBank accession numbers for the canine SP110 alternative transcripts reported in this paper are KP245899–KP245902.

  • This article contains supporting information online at www.pnas.org/lookup/suppl/doi:10.1073/pnas.1600084113/-/DCSupplemental.

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AbstractFullPdf
May 201637295102440
Jun 20165721336533
Jul 2016562173226
Aug 2016340350239
Sep 20161956095
Oct 201622153173
Nov 201614643141
Dec 20161125488
Total 20161102615793935
Jan 201714646136
Feb 201711748126
Mar 20178746125
Apr 20178233140
May 2017863774
Jun 20177530161
Jul 20178647214
Aug 20175336186
Sep 20175043200
Oct 20175548188
Nov 20174533247
Dec 20176550264
Total 20179474972061
Jan 20183542212
Feb 201810311126
Mar 201841243435
Apr 2018578930
May 2018687923
Jun 2018334614
Jul 20187910017
Aug 2018627518
Sep 2018455412
Oct 2018156316
Nov 201877211
Dec 20181124321
Total 20189271408435
Jan 201953814
Feb 201983515
Total 2019137329
Total1291335576460
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SP110 variants modify risk in canine model of ALS
Emma L. Ivansson, Kate Megquier, Sergey V. Kozyrev, Eva Murén, Izabella Baranowska Körberg, Ross Swofford, Michele Koltookian, Noriko Tonomura, Rong Zeng, Ana L. Kolicheski, Liz Hansen, Martin L. Katz, Gayle C. Johnson, Gary S. Johnson, Joan R. Coates, Kerstin Lindblad-Toh
Proceedings of the National Academy of Sciences May 2016, 113 (22) E3091-E3100; DOI: 10.1073/pnas.1600084113
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