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Vet Pathol 44:932-935 (2007)
© 2007 American College of Veterinary Pathologists
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Calcium Diacylglycerol Guanine Nucleotide Exchange Factor I (CalDAG-GEFI) Gene Mutations in a Thrombopathic Simmental Calf

M. K. Boudreaux, S. M. Schmutz and P. S. French

Department of Pathobiology, College of Veterinary Medicine, Auburn University, AL (MKB), College of Agriculture and Bioresources, University of Saskatchewan, Saskatoon, SK, Canada (SMS), and Northwest Veterinary Hospital Wauseon, OH (PSF)

Abstract

Simmental thrombopathia is an inherited platelet disorder that closely resembles the platelet disorders described in Basset Hounds and Eskimo Spitz dogs. Recently, two different mutations in the gene encoding calcium diacylglycerol guanine nucleotide exchange factor I (CalDAG-GEFI) were described to be associated with the Basset Hound and Spitz thrombopathia disorders, and a third distinct mutation was identified in CalDAG-GEFI in thrombopathic Landseers of European Continental Type. The gene encoding CalDAG-GEFI was sequenced using DNA obtained from normal cattle and from a thrombopathic calf studied in Canada. The affected calf was found to have a nucleotide change (c.701 T>C), which would result in the substitution of a proline for a leucine within structurally conserved region two (SCR2) of the catalytic domain of the protein. This change is likely responsible for the thrombopathic phenotype observed in Simmental cattle and underscores the critical nature of this signal transduction protein in platelets.

Key words: Inherited disorder; platelet dysfunction; signal transduction; Simmental cattle.

Request reprints from Dr. M. K. Boudreaux, Department of Pathobiology, Auburn University, AL 36849-5519 (USA). E-mail: boudrmk{at}auburn.edu






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