The Human

Genome Project
Watson and Crick, May 1953
Human Genome Project

TheHumanGenome
Project(HGP)isa
geneticproject
designedtohelpus
pushthroughthe
fieldofgeneticsto
moreunderstandthe
howourbodies
functiongenetically
 History
• Begunin1990, the
U.S. HumanGenome
Proj ectwasa13-
yeareffort
coordinatedbythe
U.S. Departmentof
Energyandthe
NationalI nstitutes
ofHealth.
• Theproj ect
originallywas
plannedtolast15
years, butrapid
technological
advances
 G oals
• identify all the approxim ately 20,000-25,000 genes in hum an
D NA
• determine the sequences of the 3 billion chem ical base pairs
that m ake up hum an D N A
• store this inform ation in d atabases
• improve tools for d ata analysis
• transfer related technologies to the
private sector
• address the ethical, legal, and social
issues (EL SI) that m ay arise from the
project
US HUMAN GENOME PROJECT
 How does the human genome stack
up?

Organism Genome Size (Bases) Estimated Genes

Human (Homo sapiens) 3 billion 30,000

Laboratory mouse (M. musculus) 2.6 billion 30,000

Mustard weed (A. thaliana) 100 million 25,000

Roundworm (C. elegans) 97 million 19,000

Fruit fly (D. melanogaster) 137 million 13,000

Yeast (S. cerevisiae) 12.1 million 6,000

Bacterium (E. coli) 4.6 million 3,200
Human immunodeficiency virus (HIV) 9700 9
 An Individual’s Genome Differs from the
DNA of:

• Siblings by 1 to 2 million bases, ~99.98% identical, with

coding regions 99.99999% identical
• Unrelated humans by 6 million bases, ~99.8% identical
overall, with coding regions 99.9999% identical
• Chimpanzees by about 100 million base pairs ~98% identical
• Baboons by about 300 million base pairs ~92% identical
• Mice by about 2.8 billion bases, but coding regions are ~90%
identical
• Leaf spinach by about 2.9 billion bases, but coding regions
are ~40% identical
 Human Chromosome
Human Chromosome No.3
No.3
• A summary map
 Human gene maps and mapping of
human inherited diseases
• The genetic maps initially involved the production of fairly low-level
resolution index, skeleton or framework maps, which were based on
polymorphic variable number di-,tri- and tetranucleotide tandem repeats
spaced approximately 10cM intervals throughout the genome. The most
recent high-level resolution maps have polymorphic markers that are,
on average, spaced at intervals of less than 1 cM.
• The mapping information from these genetic maps has been integrated
with high-resolution physical maps.
• The information for the latter maps comes from a variety of sources
using a number of different technologies that include FISH, somatic cell
and radiation hybrids, and YAC or cosmid contigs.
 Co n c e r n s
• Rush to Patent Human
Genes
– t h e N a t io n a l
In s t it u t e s o f
H e a lt h , h a s m a d e
a ll it s in f o r m a t io n
f r e e ly a v a ila b le
a n d in t e n d s t o
p a t e n t n o t h in g .
– H o w e ve r, the re
a re s e ve ra l
p a te nt re q ue s ts
p e n d in g o n
huma n g e ne s
f r o m t h e t im e
b e fo re th e H G P
• Availabilty
– E m p lo y e r s u s in g
g e n e t ic
in f o r m a t io n t o
d is c r im in a t e o v e r
w h o m t h e y w ill
h ir e o r w h e n
c urre nt
e m p lo y e e s w ill
b e la id o f f o r
f o r c e d in t o
r e t ir e m e n t
– 8 0 -9 0 %
A m e r ic a n s
b e lie v e t h e ir
g e n e t ic
 Medical Benefits
• There are many benefits
with the Human Genome
Project
• Disease Intervention
exploration into the function
of each human gene will shed light on how faulty
genes play a role in disease causation. With this
knowledge we can start developing medicines to help
prevent the defect.
 Diagnosing and Predicting Disease and Disease
Susceptibility
• the successes of the HGP have even enabled
researchers to pinpoint errors in genes the
smallest units of heredity
that cause or contribute to
disease.
• The ultimate goal is to use
this information to develop
new ways to treat, cure, or
even prevent the thousands
of diseases that afflict
humankind
Changes occur in DNA
sequences = mutations
 SNPs
• A mutation that causes a single base change is
known as a Single Nucleotide Polymorphism
(SNP)
• Other kinds of mutations include insertions
and deletions
• Large breaks and rearrangement of
chromosomes also occur (translocations)

GATTTAGATCGCGATAGAG
GATTTAGATCTCGATAGAG
^
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the
human genome, providing an average density on available sequence of one SNP every 1.9 kilobases.
These SNPs were primarily discovered by two projects: The SNP Consortium and the analysis of clone
overlaps by the International Human Genome Sequencing Consortium. The map integrates all publicly
available SNPs with described genes and other genomic features. We estimate that 60,000 SNPs fall
within exon (coding and untranslated regions), and 85% of exons are within 5 kb of the nearest SNP.
Nucleotide diversity varies greatly across the genome, in a manner broadly consistent with a standard
population genetic model of human history. This high-density SNP map provides a public resource for
defining haplotype variation across the genome, and should help to identify biomedically important
genes for diagnosis and therapy.
 Ethical & Legal
Issues
• There are a lot of issues that come
up when talking about the Human
Genome Project and when figuring
ways how to use it.
• Many people of our society are
concerned about how this will
affect people around us and if it
could cause a new idea for gene
racism
• Also there could be fighting over
the use of a particular part of a
gene and how it can or cannot be
used.
• Who should have access to personal
genetic information, and how will it be
used?
• How do we prepare the public to make
informed choices?
• Where is the line between medical
treatment and enhancement?
• How does personal genetic information
affect an individual and
society's perceptions of
that individual?
 Then
• Just a half-century ago very little was
known about the genetic factors that
contribute to human disease.
• The Human Genome project spurred a
revolution in biotechnology innovation
around the world and
played a key role in
making the U.S. the
global leader in the
new biotechnology
sector.
• The Human Genome
Now
Project has already fueled the
discovery of more than 1,800 disease genes.
• As a result of the Human Genome Project, today’s
researchers can find a gene suspected of causing an
inherited disease in a matter of days, rather than the
years it took before the genome sequence was in hand.
• There are now more than 1,000 genetic tests for human
conditions. These tests enable patients to learn their genetic risks
for disease and also help healthcare professionals diagnose
disease.
• At least 350 biotechnology-based products resulting from the
Human Genome Project are currently in clinical trials.
• Having the complete sequence of the human genome is similar to
having all the pages of a manual needed to make the human body.
The challenge now is to determine how to read the contents of
these pages and understand how all of these many, complex parts
work together in human health and disease.
• The increasing ability to connect DNA variation with non-medical
conditions, such as intelligence and personality traits, will
challenge society, making the role of ethical, legal and social
implications research more important than ever.