Tetratricopeptide Repeat Domain 7 in Psoriasis

Title: The tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia.
: Helms C, et al.
Publication: Exp Biol Med (Maywood). 2005 Oct;230(9):659-67.s

The flaky skin mutation called fsn in mice caused multiple abnormalities including psoriatic-like lesions, anemia, hyper IgE, and the presence of antibodies against double-stranded DNA resembling those detected in systemic lupus erythematosus.

The fsn mutation was genetically mapped to a particular location on chromosome 17, between D17Mit130 and D17M162. When this region was sequenced, it was found that the mutation was due to insertion of an endogenous retrovirus into one of the exons or coding regions of the gene. This region encoded a tetratricopeptide repeat (TPR) domain 7 or Ttc7 gene. This mutation caused reduction in the level of Ttc7 mRNA, which was used to make TTC7 protein, as well as insertion of abnormal amino acids that might affect its interaction with other proteins.

The Ttc7 gene was expressed in multiple tissue types, including the skin, kidney, spleen, and thymus. It was most abundant in germinal center B cells and hematopoietic cells (those involved in the formation of blood cells).

The authors suggested that Ttc7 mutation should be investigated further for its role in immune system and blood disorders.

Editor’s Note: Hyper IgE is a rare immunodeficiency disorder characterized by recurring skin infection by the staphylococcal bacteria, lung infection, atopic dermatitis or eczema, and high blood serum level of IgE.

Systemic lupus erythematosus (SLE) is an autoimmune disorder, where the body’s immune system turns against parts of the body it is supposed to protect. In SLE, or commonly referred as just lupus, the immune system attacks and cause inflammation in the joints, skin, kidney, heart, lungs, blood vessels and brain.

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