Using Regulatory and Epistatic Networks to Extend the Findings of a Genome Scan: Identifying the Gene Drivers of Pigmentation in Merino Sheep
2011

Identifying the Gene Drivers of Piebald in Sheep

Sample size: 96 publication 10 minutes Evidence: high

Author Information

Author(s): García-Gámez Elsa, Reverter Antonio, Whan Vicki, McWilliam Sean M., Arranz Juan José, Kijas James

Primary Institution: Commonwealth Scientific and Industrial Research Organisation (CSIRO), Brisbane, Queensland, Australia

Hypothesis

Can combining gene expression data with genome-wide association studies help identify the genetic basis of piebald pigmentation in Merino sheep?

Conclusion

The study identified multiple genes involved in the piebald pigmentation phenotype in Merino sheep through a systems biology approach.

Supporting Evidence

  • The study confirmed a multigenic basis for the piebald condition in sheep.
  • Thirteen genes were identified at the intersection of regulatory and epistatic networks.
  • Gene expression analysis revealed coordinated down-regulation of multiple keratin genes in piebald tissue.

Takeaway

Scientists looked at the genes of sheep with and without pigmentation spots to find out which genes are responsible for the color patterns.

Methodology

The study used genome-wide association studies (GWAS) and gene expression analysis from multiple tissue types to identify genetic factors associated with the piebald phenotype.

Potential Biases

The selection of control animals based on genetic similarity may introduce bias in the results.

Limitations

The microarray used had a limited number of sheep transcripts, potentially missing important genes, and many SNPs were not located near genes, which may have weakened associations.

Participant Demographics

The study involved 24 piebald Merino sheep and 72 genetically similar non-pigmented Merino sheep.

Statistical Information

P-Value

8.45E-07

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.1371/journal.pone.0021158

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