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BMC Res Notes. 2012 Nov 8;5:626. doi: 10.1186/1756-0500-5-626.

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

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1
Research Department, Shriners Hospital for Children, Portland, OR 97239, USA.

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.

PMID:
23137129
PMCID:
PMC3522003
DOI:
10.1186/1756-0500-5-626
[Indexed for MEDLINE]
Free PMC Article
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