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Quantifying GC-Biased Gene Conversion in Great Ape Genomes Using Polymorphism-Aware Models.

Rui Borges1, Gergely J Szöllősi2, Carolin Kosiol3,4

  • 1Institut für Populationsgenetik, Vetmeduni Vienna, 1210 Wien, Wien, Austria.

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|June 1, 2019
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Summary
This summary is machine-generated.

A new model incorporating allelic selection explains nucleotide usage patterns in great apes, revealing GC-biased gene conversion (gBGC) influences evolution. Accounting for gBGC is crucial for accurate population genetics and phylogenetics analyses.

Keywords:
GC-biasMoran modelallelic selectionboundary mutationsgBGCgreat apes

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Area of Science:

  • Population genetics
  • Evolutionary biology
  • Genomics

Background:

  • Population-scale genomic data necessitate advanced models for nucleotide usage and evolutionary mechanisms.
  • Existing models like the multivariate neutral Moran model are insufficient for explaining allele distributions in great apes.

Purpose of the Study:

  • To develop and validate a new population genetics model that incorporates allelic selection.
  • To establish a Bayesian framework for estimating mutation rates and selection coefficients.
  • To investigate genome-wide nucleotide usage patterns and GC-biased gene conversion (gBGC) in great apes.

Main Methods:

  • Development of a novel theoretical model including allelic selection.
  • Creation of a Bayesian framework for parameter estimation from population data.
  • Application of the framework to a great ape genomic dataset.

Main Results:

  • Identified patterns of allelic selection in great apes consistent with genome-wide GC-biased gene conversion (gBGC).
  • Correlated variations in allelic selection intensity with distinct great ape demographic histories.
  • Demonstrated that AT/GC toggling reduces substitution probability, increasing polymorphism in great ape genomes.
  • Found that mutation rates and genetic distances are biased when gBGC is not considered.

Conclusions:

  • The proposed model and Bayesian framework accurately capture evolutionary dynamics influenced by allelic selection and gBGC.
  • GC-biased gene conversion plays a significant role in shaping great ape genome composition and evolution.
  • Accurate molecular analyses, including mutation rate and genetic distance estimations, require gBGC-aware models.