A missense mutation in PMEL17 is associated with the Silver coat color in the horse
2006

Mutation in PMEL17 Causes Silver Coat Color in Horses

Sample size: 149 publication 10 minutes Evidence: high

Author Information

Author(s): Brunberg Emma, Andersson Leif, Cothran Gus, Sandberg Kaj, Mikko Sofia, Lindgren Gabriella

Primary Institution: Uppsala University

Hypothesis

Is there a genetic mutation responsible for the Silver coat color in horses?

Conclusion

The study identifies a mutation in the PMEL17 gene as the cause of the Silver coat color in horses.

Supporting Evidence

  • The missense mutation Arg618Cys was found to be completely associated with the Silver phenotype.
  • 64 Silver horses and 85 non-Silver horses were tested for the mutation.
  • Significant linkage was found between the Silver phenotype and the genetic marker TKY284.

Takeaway

This study found that a specific change in a gene is what makes some horses have a shiny silver coat.

Methodology

The study involved genotyping and sequencing of the PMEL17 gene in a half-sib family of horses.

Potential Biases

Potential bias in sample selection as only certain breeds were tested.

Limitations

The study may not account for all potential mutations affecting coat color in horses.

Participant Demographics

The study included horses from multiple breeds, including Icelandic, Rocky Mountain, and American Miniature Horses.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2156-7-46

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