This chapter explain how linkage mapping, physical mapping, and DNA sequencing each contributed to the Human Genome Project, define the fields of proteomics and genomics, describe the surprising findings of the Human Genome Project with respect to the size of the human genome, distinguish between transposons and retrotransposons.
Trang 1Genomes and Their Evolution
Trang 2 Use of computers, software, and math models
to process and integrate data from
sequencing projects
Trang 3Human 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
Trang 6Human DNA
• 3 billion base pairs
• ~20,000 genes
• Only 1.5% codes for proteins (or RNA)
• Mostly Repetitive Repetitive
DNA : sequences
present in multiple copies
Trang 8Transposable 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
Trang 9Moves within genome via DNA intermediate
“cut & paste” or “copy & paste” mechanisms
Requires enzyme transposasetransposase
Trang 10 Move by means of RNA intermediate
Leaves copy at original site
Involves enzyme reverse transcriptasereverse transcriptase
Trang 11Genome 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
Trang 12Multigene Families
Collections of 2 or more identical or very
similar genes
Eg hemoglobin: -globin and globin and -globin and globin gene families
Trang 14Transposable 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
Trang 16Illustrative Example: Antifreeze Gene in Fish
Antifreeze proteins (AFP): produced by vertebrates, Antifreeze proteins (AFP):
plants, fungi, bacteria to aid survival in sub-globin and zero
environments
Function: bind to ice crystals and prevent growth
Antarctic fish: old protein gene transformed into a new Antarctic fish
gene with new structure/function
Gene mutates duplicated divergent evolution
Trang 17Evolutionary Development
(Evo-globin and devo)
understand how changes can lead to evolution of organisms
Trang 18Homeotic genes
Homeotic genes: master regulatory genes
of body parts
Homeobox
Homeobox: widely conserved 180-nucleotide sequence within homeotic (Hox) genes
plants)
Trang 19Conservation of homeotic genes