The Human Genome Project ➢ June 26, 2000: Successful completion of the first ‘draft’ of the entire human genome!!! ➢ The race between Celera and NIH is finished. The private company appears to have won. •But, What the heck is a ‘genome’? What did they/we win?
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The Human Genome Project
➢ June 26, 2000: Successful completion of the first ‘draft’ of the entire human genome!!!
➢ The race between Celera and NIH is finished. The private company appears to have won.
•But,What the heck is a ‘genome’?What did they/we win?
➢ An initiative begun by NIH in 2002➢ Completed in 2004➢
➢ Other species considered:➢ Cats, cows, sheep, horses, dogs
➢ Cow begun in 2004➢ Pig begun in 2005➢ Who's next?
➢ Look here: Ensembl
➔But,What the heck is a ‘genome’?What did they/we win?
The Genome (?)
➢ G-nomes;Grumpy and Sleepy?
➢ With apologies to Dr. Dean Snow
✔Not really.✔A genome is a complete sequence of all the known genes of an organism; including their structure and function
Maps and markers
➢ What’s a genetic map?
➢ With apologies to Dr. David Bottstein.
✔WELL,Let’s start with a simpler question:✔How do you get to Penn State??
One kind of map of Penn State
Here’s a better view
Now I know this will be helpful
Perhaps we need a different kind of map?
How about this?
Or, this?
Or, even this?
The Genome (among friends)
➢ Chromosomes➢ Each chromosome is
one molecule of DNA.➢ 107 to 108 base pairs➢ A structural gene,
coding for a polypeptide/protein, is between 103 to 104 bp.
➢ Approximately 10% of the genome is coding.
➢ DO THE MATH!!➢ A chromosome contains
1,000 to 10,000 genes.➢ Vertebrate genomes contain
approximately 50,000 to 100,000 genes.
➢ These are generalizations and are highly species specific.
➢ Indeed, calculations from the human genome project suggest that there are approx. 35,000 genes
Genes and Markers and Maps
➢ Gene Mapping➢ The location of genes to specific positions (e.g.,
loci) on specific chromosomes.
Structural Genes
➢ Consider Hemoglobin!➢ Normal adult hemoglobin consists of 2 molecules
each of 2 different polypeptides.➢ α (141 aa) and β (146 aa)➢ On chromosomes 16 and 11
➢ Given 3 bp per aa➢ the β chain has 4438 possible single bp variants➢ This number exceeds the total number of fundamental
particles in the universe.
Hemoglobin-β mutations
Non-sense
Nil-STOPUAGATCMutant
Mis-sense
ValineGUGCACMutant
Same-sense
GlutamateGAACTTMutant
Wild-type
GlutamateGAGCTCNormal
TypeAmino Acid
mRNA codon
DNA codon
Allele
Mapping➢ Prior to the 1980’s all mapping was accomplished
using major genes of obvious phenotypic effect.➢ The advent of RFLP’s, AFLP’s, microsatellites and
other molecular markers, we can identify large numbers of segregating loci, simultaneously in the same cross.
➢ Remember that these markers are not true genes and are really ‘framework maps’, since they provide the ‘road map’ to locate genes of interest.➢ Useful for locating and studying QTL / MAS.➢ Invaluable to investigating genomic organization across