A polymorphism in thrombospondin-1 associated with familial premature coronary heart disease causes a local change in conformation of the Ca2+-binding repeats

J Biol Chem. 2003 Mar 14;278(11):8929-34. doi: 10.1074/jbc.m211185200.

Abstract

A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. We expressed the Ca2+-binding repeats alone (Ca) or with the third epidermal growth factor-like module (E3Ca), without (Asn-700) or with (Ser-700) the disease-associated polymorphism. The intrinsic fluorescence of a single tryptophan (Trp-698) adjacent to the polymorphic residue was quenched cooperatively by adding Ca2+. The third epidermal growth factor-like repeat dramatically altered the Ca2+-dependent fluorescence transition for the Asn-700 constructs; the half-effective concentration (EC50) of Ca Asn-700 was 390 microM, and the EC50 of E3Ca Asn-700 was 70 microM. The Ser-700 polymorphism shifted the EC50 to higher Ca2+ concentrations (Ca Ser-700 EC50 of 950 microM and E3Ca Ser-700 EC50 of 110 microM). This destabilizing effect is due to local conformational changes, as the Ser-700 polymorphism did not influence the secondary structure of E3Ca or Ca as assessed by far UV circular dichroism. At 200 microM Ca2+, in which both E3Ca Asn-700 and Ser-700 are in the Ca2+-replete conformation at 37 degrees C, the fluorescence of E3Ca Ser-700 reverted to the Ca2+-depleted spectrum at 50 degrees C compared with 65 degrees C for E3Ca Asn-700. These findings indicate that the Ser-700 polymorphism subtly but significantly sensitizes the calcium-binding repeats to removal of Ca2+ and thermal denaturation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Calcium / metabolism
  • Calcium / pharmacology
  • Circular Dichroism
  • Cloning, Molecular
  • Coronary Disease / genetics*
  • Dose-Response Relationship, Drug
  • Electrophoresis, Polyacrylamide Gel
  • Epidermal Growth Factor / chemistry
  • Humans
  • Polymorphism, Genetic
  • Protein Binding
  • Protein Conformation
  • Protein Denaturation
  • Protein Structure, Tertiary
  • Recombinant Proteins / chemistry
  • Serine / chemistry
  • Spectrometry, Fluorescence
  • Temperature
  • Thrombospondin 1 / chemistry*
  • Thrombospondin 1 / genetics*
  • Tryptophan / chemistry
  • Ultraviolet Rays

Substances

  • Recombinant Proteins
  • Thrombospondin 1
  • Serine
  • Epidermal Growth Factor
  • Tryptophan
  • Calcium