Evidence map›Paper›PMID 17254985›Full record

ArticleProceedings. Biological sciences2007

Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour polymorphism in a free-living population of Soay sheep.

J Gratten, D Beraldi, B V Lowder, A F McRae, P M Visscher, J M Pemberton, J Slate

Open access · greenAbstract readComparative Study
In one paragraph

Article in Proceedings. Biological sciences, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
2.7field-weighted citation impact, top 11% 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

42 citing papers in PubMed, 135 citations in OpenAlex.

  1. Article
  2. Review
  3. Evolution letters · 2025
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  4. Article
  5. Regulatory Changes in the Fatty Acid ElongasebioRxiv : the preprint server for biology · 2024
    Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Genetic Variation in Coat Colour GenesFrontiers in genetics · 2018
    Article
  20. 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

7 authors at 3 institutions in 2 countries.

J GrattenDepartment of Animal and Plant Sciences, University of Sheffield, Western Bank, Sheffield S10 2TN, UK. j.gratten@sheffield.ac.uk
D Beraldi
B V Lowder
A F McRae
P M Visscher
J M Pemberton
J Slate
University of Sheffield · GBQIMR Berghofer Medical Research Institute · AUUniversity of Edinburgh · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

Identifying the genes that underlie phenotypic variation in natural populations is a central objective of evolutionary genetics. Here, we report the identification of the gene and causal mutation underlying coat colour variation in a free-living population of Soay sheep (Ovis aries). We targeted tyrosinase-related protein 1 (TYRP1), a positional candidate gene based on previous work that mapped the Coat colour locus to an approximately 15cM window on chromosome 2. We identified a non-synonymous substitution in exon IV that was perfectly associated with coat colour. This polymorphism is predicted to cause the loss of a cysteine residue that is highly evolutionarily conserved and likely to be of functional significance. We eliminated the possibility that this association is due to the presence of strong linkage disequilibrium with an unknown regulatory mutation by demonstrating that there is no difference in relative TYRP1 expression between colour morphs. Analysis of this putative causal mutation in a complex pedigree of more than 500 sheep revealed almost perfect co-segregation with coat colour (chi2-test, p<0.0001, LOD=110.20), and very tight linkage between Coat colour and TYRP1 (LOD=29.50).

Indexed as

Polymorphism, Single NucleotideAmino Acid SequenceAnimalsBase SequenceChromosome MappingDNA PrimersHair ColorLinkage DisequilibriumLod ScoreMolecular Sequence DataOxidoreductasesPedigreePigmentationSequence Analysis, DNASheep, DomesticDNA PrimersOxidoreductasestyrosinase-related protein-1

Identifiers

PMID17254985
PMCPMC2197217
OpenAlexW2133931404

What OpenQuestion holds

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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.