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  • Arendt, Maja LouiseUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Univ Cambridge, Dept Vet Med, Cambridge, England. (author)

Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours

  • Article/chapterEnglish2015

Publisher, publication year, extent ...

  • 2015-11-20
  • Public Library of Science (PLoS),2015
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-272307
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-272307URI
  • https://doi.org/10.1371/journal.pgen.1005647DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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

Notes

  • Canine mast cell tumours (CMCT) are one of the most common skin tumours in dogs with a major impact on canine health. Certain breeds have a higher risk of developing mast cell tumours, suggesting that underlying predisposing germ-line genetic factors play a role in the development of this disease. The genetic risk factors are largely unknown, although somatic mutations in the oncogene C-KIT have been detected in a proportion of CMCT, making CMCT a comparative model for mastocytosis in humans where C-KIT mutations are frequent. We have performed a genome wide association study in golden retrievers from two continents and identified separate regions in the genome associated with risk of CMCT in the two populations. Sequence capture of associated regions and subsequent fine mapping in a larger cohort of dogs identified a SNP associated with development of CMCT in the GNAI2 gene (p = 2.2x10(-16)), introducing an alternative splice form of this gene resulting in a truncated protein. In addition, disease associated haplotypes harbouring the hyaluronidase genes HYAL1, HYAL2 and HYAL3 on cfa20 and HYAL4, SPAM1 and HYALP1 on cfa14 were identified as separate risk factors in European and US golden retrievers, respectively, suggesting that turnover of hyaluronan plays an important role in the development of CMCT.

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  • Melin, MalinUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi(Swepub:uu)malar472 (author)
  • Tonomura, NorikoBroad Inst MIT & Harvard, Cambridge, MA USA.;Tufts Univ, Cummings Sch Vet Med, Dept Clin Sci, North Grafton, MA USA. (author)
  • Koltookian, MicheleBroad Inst MIT & Harvard, Cambridge, MA USA. (author)
  • Courtay-Cahen, CelineAnim Hlth Trust, Newmarket, Suffolk, England. (author)
  • Flindall, NettyAnim Hlth Trust, Newmarket, Suffolk, England. (author)
  • Bass, JoyceAnim Hlth Trust, Newmarket, Suffolk, England. (author)
  • Boerkamp, KimUniv Utrecht, Dept Clin Sci Compan Anim, Utrecht, Netherlands. (author)
  • Megquir, KatherineUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA USA.;Tufts Univ, Cummings Sch Vet Med, Dept Clin Sci, North Grafton, MA USA.(Swepub:uu)katme400 (author)
  • Youell, LisaAnim Hlth Trust, Newmarket, Suffolk, England. (author)
  • Murphy, SueAnim Hlth Trust, Newmarket, Suffolk, England. (author)
  • McCarthy, ColleenBroad Inst MIT & Harvard, Cambridge, MA USA. (author)
  • London, CherylOhio State Univ, Dept Vet Clin Sci, Columbus, OH 43210 USA. (author)
  • Rutteman, Gerard R.Univ Utrecht, Dept Clin Sci Compan Anim, Utrecht, Netherlands.;Vet Specialist Ctr De Wagenrenk, Wageningen, Netherlands. (author)
  • Starkey, MikeAnim Hlth Trust, Newmarket, Suffolk, England. (author)
  • Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA USA.(Swepub:uu)kerli865 (author)
  • Uppsala universitetInstitutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)

Related titles

  • In:PLOS Genetics: Public Library of Science (PLoS)11:111553-73901553-7404

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