BSC2010-evolution-6-2024

Genome Evolution Overview

  • Organisms listed in order of evolutionary complexity:

    • Mammals, Birds, Reptiles, Frogs, Salamanders, Lungfishes, Teleosts, Chondrichthyes, Agnathans, Non-vertebrate Chordates, Crustaceans, Insects, Arachnids, Myriapods, Molluscs, Annelids, Echinoderms, Tardigrades, Flatworms, Rotifers, Angiosperms, Gymnosperms, Pteridophytes, Bryophytes, Nematodes, Cnidarians, Sponges, Fungi, Algae, Protozoa, Eubacteria, Archaea.

  • C-value (pg): Range indicated from 10^-4 to 10^3.

Outline of Key Concepts

  • Neutral vs. Selective Processes of Genotypic Evolution

    • Synonymous and Nonsynonymous substitutions

    • Purifying vs positive selection of genotypic variation

    • Kimura’s Neutral Theory of Evolution and the molecular clock

    • Types of Genotypic Change

      • Insertions, deletions, frameshifts

      • Hox Genes

      • Lateral Transfer

      • Evolution of genome size and gene number

Genome Basics

  • Genome Definition:

    • The collective set of genes and noncoding DNA of an organism.

    • Comprises genes, regulatory sequences, structural elements, and extensive noncoding regions.

    • Evolution occurs through changes in gene sequences, locations, and expressions.

Neutral and Selective Processes of Evolution

  • Synonymous Substitution:

    • No effect on protein functioning (silent).

  • Nonsynonymous Substitution:

    • Often harmful but can be neutral or beneficial; mutation probability’s effect on protein depends on codon position.

Rates of Substitution Differ

  • Rates of Substitution:

    • Higher in regions where changes have negligible effect.

    • Lower in regions affecting amino acid expression.

  • Pseudogenes:

    • Non-functional gene copies resulting from mutation.

Measuring Gene Evolution

  • Testing for Selection Using dN/dS Ratio:

    • dN/dS (or Ka/Ks) ratio calculated as:

      • dN = non-synonymous substitutions / total possible non-synonymous

      • dS = synonymous substitutions / total possible synonymous

    • Interpretation:

      • dN/dS > 1: Positive selection

      • dN/dS = 1: Neutral evolution (null hypothesis)

      • dN/dS < 1: Purifying selection (common for most codons)

Impact of Variation on Evolutionary Fitness

  • Adaptive Variation vs. Neutral Variation:

    • Traits can vary on multiple scales (molecular, morphological, etc.).

Natural Selection Mechanisms

  • Positive (Darwinian) Selection:

    • Favours beneficial alleles, evident through higher nonsynonymous substitution rates.

  • Purifying Selection:

    • Reduces prevalence of harmful alleles, correlating to higher synonymous substitution rates.

Kimura’s Neutral Theory of Evolution (1983)

  • Most genetic variation stems from neutral mutations.

  • Neutral mutations accumulate via genetic drift.

  • The fixation rate of neutral mutations is mutation rate independent of population size.

The Molecular Clock

  • DNA Substitution Rate:

    • Used to estimate evolutionary time scales (divergence times, rates of neutral evolution).

Calculating DNA Substitution Rate

  • Measure % base pair differences (D) between species, estimate time (T) from fossils:

  • Divergence rate = D / T.

Uses of Molecular Clocks

  • Applications in determining the timeline of HIV in humans, dating significant events like the Cambrian explosion and human origins.

Genotypic Change Types

  • Insertions/Deletions/Frameshifts:

    • More impactful than point mutations in gene sequences.

Hox Genes and Homeotic Mutations

  • Hox genes dictate cell fates and are conserved across all animals; mutations can significantly alter body structure.

Horizontal (Lateral) Gene Transfer

  • Transfers genetic material between unrelated organisms, prevalent in prokaryotes, contributing to genetic diversity.

  • Key events include the endosymbiosis of mitochondria and chloroplasts.

Evolution of Genome Size and Gene Number

  • Complexity not directly correlating with genome size or gene number; variations often arise from non-coding DNA quantities.

Gene Number Estimates for Various Organisms

  • Comparative analysis of gene numbers across different species highlighting diversity and evolutionary complexity.

Coding vs Non-Coding DNA

  • Evidence of variation in coding vs non-coding DNA across various organisms.