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Mutation Edgotype Drives Fitness Effect in Human.

Mohamed Ghadie¹, Yu Xia¹

¹Department of Bioengineering, McGill University, Montreal, QC, Canada.

Frontiers in Bioinformatics

|October 28, 2022

Summary

Missense mutations can alter protein-protein interaction networks. This study reveals that mutations not disrupting these networks are mostly neutral, while those affecting protein stability are often detrimental, impacting organismal fitness.

Keywords:

fitness effect interactome perturbations missense mutations mutation edgotype protein-protein interactions

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Area of Science:

Genomics
Systems Biology
Biophysics

Background:

Missense mutations can affect protein-protein interaction networks (interactome networks) in various ways.
The impact of different interactome perturbation patterns, termed 'edgotypes,' on organismal fitness is not well understood.

Purpose of the Study:

To estimate the fitness effects of missense mutations based on their distinct interactome perturbation patterns in humans.
To classify mutations as quasi-wild-type (no PPI disruption), edgetic (interface disruption), or quasi-null (stability disruption).

Main Methods:

Mapping pathogenic and common non-pathogenic mutations onto human protein-protein interaction structural models.
Employing structure-based calculations to categorize mutations into quasi-wild-type, edgetic, or quasi-null.
Estimating fitness effects using predicted and experimental interactome perturbation data.

Main Results:

Over 40% of quasi-wild-type mutations appear neutral, with the rest being mildly deleterious.
>75% of edgetic mutations are only mildly deleterious.
Up to 75% of quasi-null mutations may be strongly detrimental to fitness.

Conclusions:

Mutations not disrupting interactomes are generally neutral.
Most human protein-protein interactions are under strong purifying selection.
Protein stability is crucial for human survival.