Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina.
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.
Dardano
Sabrina
S
Dipartimento di Scienze Animali, Sezione di Zootecnica Veterinaria, Università degli Studi di Milano, 20133 Milano, Italy.
Gandolfi
Barbara
B
Parma
Pietro
P
Polli
Michele
M
Bighignoli
Barbara
B
Strillacci
Maria G
MG
Cozzi
Maria C
MC
Molteni
Luciano
L
Longeri
Maria
M
D000818:Animals; D002417:Cattle; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D011503:Transglutaminases / Q000737:chemistry* / Q000235:genetics*
D011503:Transglutaminases; C105804:transglutaminase 1