A Newly Described Bovine Type 2 Scurs Syndrome Segregates with a Frame-Shift Mutation in TWIST1
2011

Bovine Type 2 Scurs Syndrome Linked to TWIST1 Mutation

Sample size: 57 publication 10 minutes Evidence: high

Author Information

Author(s): Capitan Aurélien, Grohs Cécile, Weiss Bernard, Rossignol Marie-Noëlle, Reversé Patrick, Eggen André

Primary Institution: Institut National de la Recherche Agronomique

Hypothesis

Is there a genetic basis for the newly described type 2 scurs syndrome in cattle?

Conclusion

The study identifies a frame-shift mutation in the TWIST1 gene that is associated with type 2 scurs syndrome in cattle.

Supporting Evidence

  • The TWIST1 gene mutation was found in all affected individuals.
  • No homozygous individuals for the mutation were observed, suggesting lethality.
  • The study provides a unique opportunity to understand horn development in cattle.

Takeaway

This study found a genetic mutation in cattle that causes problems with horn development, helping us understand how horns grow.

Methodology

Genome-wide linkage analysis and sequencing of the TWIST1 gene were performed on a pedigree of cattle.

Limitations

The study does not provide functional proof of the causality of the mutation.

Participant Demographics

The study involved 57 cattle from the French Polled Charolais Program.

Statistical Information

P-Value

p<0.05

Confidence Interval

95% confidence interval spans 1.7 Mb

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0022242

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