Work

Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse

Year: 2012

Type: article

Abstract: BACKGROUND: Hyperelastosis cutis is an inherited autosomal recessive connective tissue disorder. Affected horses are characterized by hyperextensible skin, scarring, and severe lesions along the back. The disorder is caused by a mutation in cyclophilin B. RESULTS: The crystal structures of both wild-type and mutated (Gly6->Arg) horse cyclophilin B are presented. The mutation neither affects the overall fold of the enzyme nor impairs the catalytic site structure. Instead, it locally rearranges the flexible N-terminal end of the polypeptide chain and also makes it more rigid. CONCLUSIONS: Interactions of the mutated cyclophilin B with a set of endoplasmic reticulum-resident proteins must be affected.

Source: BMC Research Notes

DOI: 10.1186/1756-0500-5-626

Authors: Sergei P Boudko, Yoshihiro Ishikawa, Thomas F Lerch, Jay Nix, Michael S Chapman, Hans Peter Bächinger