Genomes and Their Evolution
Bioinformatics
Use of computers, software, and math models to
process and integrate data from sequencing projects
Human Genome Project
Purpose: to sequence the entire human
genome
Completed in 2003
Genomes sequenced thus far*: 58,000
prokaryotes, 2700 eukaryotes, 5300 viruses
* Data as of 1/27/16
Human DNA
• 3 billion base pairs
• ~20,000 genes
• Only 1.5% codes for
proteins (or RNA)
• Mostly Repetitive DNA:
DNA
sequences present in
multiple copies
Transposable Elements
Make up 75% of repetitive DNA
Stretches of DNA that can be moved from one
location to another in genome
Discovered by Barbara McClintock – corn
breeding experiments
2 Types:
Transposons
Retrotransposons
Transposons
Moves within genome via DNA intermediate
“cut & paste” or “copy & paste” mechanisms
Requires enzyme transposase
Retrotransposons
Move by means of RNA intermediate
Leaves copy at original site
Involves enzyme reverse transcriptase
Genome Evolution
Insertion effects of transposons:
Can interrupt or alter gene function
Multiple copies of genes
Duplication genes with related functions
Genes diverge by accumulating mutations
Some become nonfunctional pseudogenes
Eventually, new genes with new functions can
occur
Multigene Families
Collections of 2 or more identical or very
similar genes
Eg. hemoglobin: α-globin and β-globin gene
families
Transposable elements contribute to
evolution
Promote recombination, disrupt genes or
control elements, & carry genes to new
locations
May be harmful or lethal, but can also have
small beneficial effects
Provides raw material for natural selection
Illustrative Example: Antifreeze Gene in Fish
Antifreeze proteins (AFP): produced by vertebrates,
plants, fungi, bacteria to aid survival in sub-zero
environments
Function: bind to ice crystals and prevent growth
Antarctic fish:
fish old protein gene transformed into a new
gene with new structure/function
Gene mutates duplicated divergent evolution
Evolutionary Development
(Evo-devo)
• Compares developmental processes to understand
how changes can lead to evolution of organisms
Homeotic genes:
genes master regulatory genes
• Control placement and spatial organization
of body parts
Homeobox:
Homeobox widely conserved 180-nucleotide
sequence within homeotic (Hox) genes
• Found in many groups (fungi, animals,
plants)
• Hints at relatedness between all life forms
Conservation of
homeotic genes