Evidence map›Paper›PMID 26588071›Full record

ArticlePLoS genetics2015

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

Maja L Arendt, Malin Melin, Noriko Tonomura, Michele Koltookian, Celine Courtay-Cahen, Netty Flindall, Joyce Bass, Kim Boerkamp, Katherine Megquir, Lisa Youell and 6 more

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
3.6field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 55 citations in OpenAlex.

  1. Article
  2. Article
  3. Canine genome-wide association study identifiesScience (New York, N.Y.) · 2025
    Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. A Novel Splice Variant of HYAL-4 Drives Malignant Transformation and Predicts Outcome in Patients with Bladder Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2020
    Article
  17. Review
  18. Article
  19. Review
  20. Inbreeding depression causes reduced fecundity in Golden Retrievers.Mammalian genome : official journal of the International Mammalian Genome Society · 2019
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 6 institutions in 4 countries.

Maja L ArendtScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Malin MelinScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Noriko TonomuraBroad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
Michele KoltookianBroad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
Celine Courtay-CahenAnimal Health Trust, Newmarket, United Kingdom.
Netty FlindallAnimal Health Trust, Newmarket, United Kingdom.
Joyce BassAnimal Health Trust, Newmarket, United Kingdom.
Kim BoerkampDepartment of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, The Netherlands.
Katherine MegquirScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Lisa YouellAnimal Health Trust, Newmarket, United Kingdom.
Sue MurphyAnimal Health Trust, Newmarket, United Kingdom.
Colleen McCarthyBroad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
Cheryl LondonDepartment of Veterinary Clinical Sciences Ohio State University, Columbus, Ohio, United States of America.
Gerard R RuttemanDepartment of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, The Netherlands.
Mike StarkeyAnimal Health Trust, Newmarket, United Kingdom.
Kerstin Lindblad-TohScience for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Animal Health Trust · GBBroad Institute · USTufts University · USUppsala University · SEUtrecht University · NLThe Ohio State University · US

Funding

Translational Therapeutics Research Program (TT)P30CA016058 · NCI · OHIO STATE UNIVERSITY · PI Daniel G. Stover · 1985 to 2026
$132.3M
The Ohio State University Center for clinical and Translational ScienceUL1TR001070 · NCATS · OHIO STATE UNIVERSITY · PI JACKSON, REBECCA D · 2013 to 2017
$22.6M
The Ohio State University Center for Clinical and Translational Science (UL1)UL1TR000090 · NCATS · OHIO STATE UNIVERSITY · PI JACKSON, REBECCA D · 2012 to 2013
$7.9M
NCATS NIH HHS UL1 TR000090NCATS NIH HHS UL1 TR001070NCI NIH HHS P30 CA016058
6 · The paper itself

Abstract

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.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyGerm-Line MutationAlternative SplicingAnimalsDog DiseasesDogsGTP-Binding Protein alpha Subunit, Gi2MastocytomaPolymorphism, Single NucleotideGTP-Binding Protein alpha Subunit, Gi2

Identifiers

PMID26588071
PMCPMC4654484
OpenAlexW2178661046

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.