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.