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

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish (US)
Article number626
JournalBMC Research Notes
Volume5
DOIs
StatePublished - 2012

Fingerprint

Horses
Crystal structure
Mutation
Endoplasmic Reticulum
Connective Tissue
Cicatrix
Catalytic Domain
Skin
Tissue
Peptides
Enzymes
cyclophilin B
Proteins

Keywords

  • Calreticulin
  • Chaperone
  • Collagen
  • Cyclophilin B (CypB)
  • Endoplasmic reticulum
  • HERDA
  • Lysyl hydroxylase
  • P-domain
  • Peptidyl prolyl cis-trans-isomerase (PPIase)
  • Protein complex

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse. / Boudko, Sergei P.; Ishikawa, Yoshihiro; Lerch, Thomas F.; Nix, Jay; Chapman, Michael; Bächinger, Hans Peter.

In: BMC Research Notes, Vol. 5, 626, 2012.

Research output: Contribution to journalArticle

Boudko, Sergei P. ; Ishikawa, Yoshihiro ; Lerch, Thomas F. ; Nix, Jay ; Chapman, Michael ; Bächinger, Hans Peter. / Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse. In: BMC Research Notes. 2012 ; Vol. 5.
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AU - Ishikawa, Yoshihiro

AU - Lerch, Thomas F.

AU - Nix, Jay

AU - Chapman, Michael

AU - Bächinger, Hans Peter

PY - 2012

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