Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina.

Abstract

Ichthyosis is a heterogeneous group of keratinization disorders reported both in human and animals. Two rare, inherited forms have been reported in cattle, both characterized by autosomal recessive transmission. Because mutations of transglutaminase 1 (TGM1) gene are associated with autosomal recessive ichthyosis in people, this gene was investigated as a candidate for the diseases in cattle. Three different polymorphisms were identified in 5' end region of cattle TGM1. Marker homozygosity was not found among affected calves. Linkage analysis excluded (logarithmic odds [LOD] score -2.0) TGM1 as the cause for ichthyosis phenotype in the analyzed Chianina cases.

• Authors: Sabrina Dardano, Barbara Gandolfi, Pietro Parma, Michele Polli, Barbara Bighignoli, Maria G Strillacci, Maria C Cozzi, Luciano Molteni, Maria Longeri
• Journal: The Journal of heredity (J Hered) 2008 Jan-Feb Vol. 99 Issue 1 Pg. 81-3 ISSN: 1465-7333 [Electronic] United States
• PMID: 18165261 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Transglutaminases
• transglutaminase 1

Topics

• Animals
• Cattle
• Genetic Linkage
• Humans
• Ichthyosis (enzymology, genetics)
• Mutation
• Polymorphism, Genetic
• Transglutaminases (chemistry, genetics)