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

ABSTRACT: 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.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.Interactions of the mutated cyclophilin B with a set of endoplasmic reticulum-resident proteins must be affected.

SUBMITTER: Boudko SP

PROVIDER: S-EPMC3522003 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature

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

Boudko Sergei P SP Ishikawa Yoshihiro Y Lerch Thomas F TF Nix Jay J Chapman Michael S MS Bächinger Hans Peter HP

BMC research notes 20121108

<h4>Background</h4>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.<h4>Results</h4>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 ...[more]

PMID: 23137129

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Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding.

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