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.

[1]  V. Zappulli,et al.  Ichthyosis in two Chianina calves. , 2006, DTW. Deutsche tierarztliche Wochenschrift.

[2]  G. Sironi,et al.  Ichthyosis in Chianina cattle , 2006, Veterinary Record.

[3]  S. Imbeaud,et al.  XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family , 2005, American journal of medical genetics. Part A.

[4]  D. Kelsell,et al.  Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. , 2005, American journal of human genetics.

[5]  G. Richard.  Molecular genetics of the ichthyoses , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[6]  M. Akiyama,et al.  A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype , 2003, The British journal of dermatology.

[7]  T. Olivry,et al.  Harlequin Ichthyosis in Two Greater Kudu (Tragelaphus strepsiceros) , 2002, Veterinary pathology.

[8]  A. Raoofi,et al.  Ichthyosis congenita in a calf in Iran , 2001, Veterinary Record.

[9]  F. Galibert,et al.  DNA sequence and physical mapping of the canine transglutaminase 1 gene , 2001, Cytogenetic and Genome Research.

[10]  D. Cox,et al.  Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway , 1998, European Journal of Human Genetics.

[11]  J. Ortonne,et al.  Congenital Ichthyosis in Two Cavalier King Charles Spaniel Littermates. , 1994, Veterinary dermatology.

[12]  L. Goldsmith,et al.  Organization and evolution of the human epidermal keratinocyte transglutaminase I gene. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[13]  W. Ward,et al.  Ichthyosis in domestic animals: a review of the literature and a case report. , 1985, The British veterinary journal.

[14]  J. E. Jensen,et al.  The ichthyosis mouse: histologic, histochemical, ultrastructural, and autoradiographic studies of interfollicular epidermis. , 1977, The Journal of investigative dermatology.