Evidence map›Paper›PMID 21701676›Full record

ArticlePloS one2011

Using regulatory and epistatic networks to extend the findings of a genome scan: identifying the gene drivers of pigmentation in merino sheep.

Elsa García-Gámez, Antonio Reverter, Vicki Whan, Sean M McWilliam, Juan José Arranz, International Sheep Genomics Consortium, James Kijas

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.2field-weighted citation impact, top 12% 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

22 citing papers in PubMed, 53 citations in OpenAlex.

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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 2 institutions in 2 countries.

Elsa García-GámezLivestock Industries, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Brisbane, Queensland, Australia.
Antonio Reverter
Vicki Whan
Sean M McWilliam
Juan José Arranz
International Sheep Genomics Consortium
James Kijas
Commonwealth Scientific and Industrial Research Organisation · AUUniversidad de León · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Extending genome wide association analysis by the inclusion of gene expression data may assist in the dissection of complex traits. We examined piebald, a pigmentation phenotype in both human and Merino sheep, by analysing multiple data types using a systems approach. First, a case control analysis of 49,034 ovine SNP was performed which confirmed a multigenic basis for the condition. We combined these results with gene expression data from five tissue types analysed with a skin-specific microarray. Promoter sequence analysis of differentially expressed genes allowed us to reverse-engineer a regulatory network. Likewise, by testing two-loci models derived from all pair-wise comparisons across piebald-associated SNP, we generated an epistatic network. At the intersection of both networks, we identified thirteen genes with insulin-like growth factor binding protein 7 (IGFBP7), platelet-derived growth factor alpha (PDGFRA) and the tetraspanin platelet activator CD9 at the kernel of the intersection. Further, we report a number of differentially expressed genes in regions containing highly associated SNP including ATRN, DOCK7, FGFR1OP, GLI3, SILV and TBX15. The application of network theory facilitated co-analysis of genetic variation with gene expression, recapitulated aspects of the known molecular biology of skin pigmentation and provided insights into the transcription regulation and epistatic interactions involved in piebald Merino sheep.

Indexed as

AnimalsAntigens, CDGenomeGTPase-Activating ProteinsHumansInsulin-Like Growth Factor Binding ProteinsMembrane GlycoproteinsMembrane ProteinsPigmentationPlatelet-Derived Growth FactorPolymorphism, Single NucleotideReceptors, Fibroblast Growth FactorSheepT-Box Domain ProteinsTetraspanin 29Antigens, CDCD9 protein, humanGTPase-Activating Proteinsinsulin-like growth factor binding protein-related protein 1Insulin-Like Growth Factor Binding ProteinsMembrane GlycoproteinsMembrane ProteinsPlatelet-Derived Growth Factorplatelet-derived growth factor AReceptors, Fibroblast Growth FactorT-Box Domain ProteinsTetraspanin 29

Identifiers

PMID21701676
PMCPMC3119053
OpenAlexW1989551904

What OpenQuestion holds

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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.