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Compensatory epistasis explored by molecular dynamics simulations.

Catarina Serrano1,2,3, Carla S S Teixeira4, David N Cooper5

  • 1i3S, Instituto de Investigação e Inovação em Saúde, Population Genetics and Evolution Group, Universidade do Porto, Rua Alfredo Allen 208, 4200-135, Porto, Portugal.

Human Genetics
|June 26, 2021
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Summary
This summary is machine-generated.

Human pathogenic variants are often wild type in mammals due to compensatory epistasis. This study identified a compensated/compensatory amino acid pair in coagulation Factor IX (FIX), mitigating pathogenic effects.

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Human pathogenic variants are sometimes found as wild type in other mammalian species.
  • Compensatory epistasis is the proposed mechanism, but specific interacting residues are rarely identified.
  • This study investigates compensated variants in X-linked human proteins.

Purpose of the Study:

  • To identify candidate compensated variants in five human X-chromosomal proteins.
  • To provide strong evidence for a compensated/compensatory amino acid pair in coagulation Factor IX (FIX).
  • To elucidate the molecular interactions underlying this compensation using simulations.

Main Methods:

  • Analysis of five human X-chromosomal proteins (FIX, GLA, HPRT1, NDP, OTC).
  • Identification of candidate compensated variants across mammalian species.
  • Molecular dynamics simulations to investigate residue interactions.

Main Results:

  • Several candidate compensated variants were identified.
  • Strong evidence found for a compensated/compensatory pair at residues 270 and 271 in coagulation FIXa.
  • Molecular dynamics simulations revealed that Pro271 mitigates steric hindrance caused by the Glu270Lys substitution (hemophilia B).

Conclusions:

  • A compensated/compensatory amino acid pair (residues 270 and 271) in coagulation FIXa was identified and validated.
  • This pair plays a crucial role in mitigating the pathogenic effects of specific mutations.
  • The findings enhance understanding of molecular mechanisms underlying variant compensation in mammals.