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The evolutionary background and functional consequences of the rs2071307 polymorphism in human tropoelastin
Sean E Reichheld1, Lisa D Muiznieks1,2, Quang Huynh1
1Molecular Medicine Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, USA.
Biopolymers
|December 22, 2020
Summary
A common human genetic variation in tropoelastin affects elastin's structure and function. This polymorphism may offer an evolutionary advantage in the heterozygous state, impacting connective tissue properties.
Area of Science:
- Biochemistry
- Genetics
- Structural Biology
Background:
- Elastin, a key extracellular matrix protein, provides elasticity and recoil.
- The rs2071307 polymorphism in tropoelastin results in a serine for glycine substitution.
- This polymorphism is highly prevalent in humans, leading to heterogeneous elastin polymers in up to 50% of the population.
Purpose of the Study:
- To investigate the structural and functional consequences of the rs2071307 tropoelastin polymorphism.
- To understand the impact of this common genetic variation on elastin polymer properties.
Main Methods:
- Nuclear Magnetic Resonance (NMR) spectroscopy.
- Molecular dynamics simulations.
- Analysis of conformational ensembles and biophysical properties.
Main Results:
- The rs2071307 polymorphism reduces local beta-turn formation propensity in tropoelastin.
- This leads to increased polypeptide hydration and an expanded conformational ensemble (increased hydrodynamic radius, radius of gyration, asphericity).
- Functional properties of polymeric elastin, especially in heterogeneous polymers, are affected by this substitution.
Conclusions:
- The rs2071307 polymorphism alters elastin's biophysical properties.
- The study suggests potential evolutionary advantages for the heterozygous state due to these effects.
- This finding has implications for understanding human connective tissue diversity and function.
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