Select a Subject
- Human Genome Project --answers to the who, what, when,
why, and how much of the Project
- Benefits and Implications of Genome Research --information
about Project benefits, the ethical, legal, and social issues associated with the project, gene
testing, and medicine
- Genetics --answers to whose genome is being used, what's a
genome, how big is a genome, what is model organism research, what is cloning, where can I find
out about a particular disease, and other questions
Human Genome Project
Q. What is the
Human Genome Project? The Human Genome Project (HGP)
is an international 13-year effort formally begun in October 1990. The
project was planned to last 15 years, but rapid technological advances
accelerated the completion to 2003. Project goals were to
determine the complete sequence of the 3 billion DNA subunits (bases),
identify all human genes, and make them accessible for further biological
study. As part of the HGP, parallel sequencing was done for selected
model organisms such as the bacterium E. coli to help develop the
technology and interpret human gene function. The Department of Energy's
Human Genome Program and the National Institutes of Health's National
Human Genome Research Institute (NHGRI) together sponsored the U.S. Human
Genome Project.
For more information, see About
the Human Genome Project.
Q. Who was head of the
U.S. Human Genome Project?
The Department of Energy's Human Genome Program research was directed by Ari Patrinos,
head of the Office of Biological and Environmental Research. Francis Collins
directed the National Institutes of Health National Human Genome Research
Institute efforts.
Q. Who are some
important contributors to genetics?
Many people have contributed to the field of genetics. See the Important
Contributors to Genetics page for five of them.
Q. How far along is
the project? How many genes have been identified?
Final HGP papers were published in 2006. A high-quality, "finished"
sequence of the human genome was completed in 2003. (The first working
draft was completed In June 2000.) In- depth analyses of complete chromosomes
continue to be published. See the Human
Genome Project Progress Web page for updates.
See also related FAQ on our Sequencing Fact Sheet.: "In
May 2006, Human Genome Project (HGP) researchers announced the completion
of the DNA sequence for the last of the 24 human chromosomes. How does
this differ from the finished human genome announced by HGP researchers
in 2003?"
Q. What were the
goals of the Human Genome Project?
See the Human
Genome Project Goals Web page for a look at project goals and corresponding five-year plans.
Q. What U.S.
laboratories and investigators were involved in the Human Genome Project?
Many laboratories around the United States received funding from either the
Department of Energy (DOE), the National Institutes of Health (NIH), or both,
for Human Genome Project research. A list of the major U.S. and international
Human Genome Project research sites can be found here.
Other researchers at numerous colleges, universities, and laboratories throughout
the United States also received DOE and NIH funding for human genome research.
At any given time, the DOE Human Genome Program funded about 200 separate principal
investigators.
Many private companies have also been conducting genome research. For more
on this, see the HGP
and the Private Sector Fact Sheet.
Q. What other countries
participated in the HGP?
At least 18 countries have established human genome research programs. Some
of the larger programs are in Australia, Brazil, Canada, China, Denmark, European
Union, France, Germany, Israel, Italy, Japan, Korea, Mexico, Netherlands, Russia,
Sweden, United Kingdom, and the United States. Some developing countries are
participated through studies of molecular biology techniques for genome research
and studies of organisms that are particularly interesting to their geographical
regions. The Human Genome Organisation (HUGO) helped to coordinate international
collaboration in the genome project.
A list of major U.S. and international Human Genome Project research sites
can be found here.
Q. What happens now that
the genome sequence is completed?
Completing the genome sequence is just the first step. See a list of post-sequencing
research challenges on the Sequencing Fact Sheet.
Q. What have
we learned from the human genome sequence?
See an index
of the primary papers published about the sequence and a list of insights
learned from this information.
Q. How much
did the Department of Energy and the National Institutes of Health spend
on the Human Genome Project?
See the joint DOE-NIH Budget
of the Human Genome Project.
Q. Why was the Department
of Energy (DOE) involved in the Human Genome Project?
See the answer
on the Department of Energy and the HGP Fact Sheet.
Q.
What DOE investments improved
the efficiency of Human Genome Project research by reducing costs, speeding progress, furthering technology?
See the answer
on the Department of Energy and the HGP Fact Sheet.
return to subject listing at top of
page
Benefits and Implications of Genome
Research
Q. What are the
potential benefits of human genome research?
The project will reap fantastic benefits for humankind, some that we can anticipate and others that
will surprise us. Generations of biologists and researchers have been provided with detailed DNA
information that will be key to understanding the structure, organization, and function of DNA in
chromosomes. Genome maps of other organisms will provide the basis for comparative studies
that are often critical to understanding more complex biological systems. Information generated
and technologies developed are revolutionizing future biological explorations.
For details about the applications of human genome project research, see Potential Benefits of Human Genome
Project Research.
Click here
to see a poster depicting resources gained from Human Genome Project research.
Q. What are some of
the ethical, legal, and social challenges presented by genetic information, and
what has been done to address these issues?
The DOE and NIH genome programs set aside 3% to 5% of their respective total
annual budgets for the study of the project's ethical, legal, and social
issues (ELSI). For an in-depth look at the ELSI surrounding the project,
see Ethical, Legal, and Social Issues (ELSI)
of the Human Genome Project.
Q. What
laws exist to protect us from genetic discrimination in insurance and in the workplace?
See the answer on our Privacy
and Legislation Web page.
Q. What is gene
patenting? Is DNA patentable? What laws govern gene patenting?
See the answer on our Patenting
Web page.
Q. What is gene
testing? How does it work?
See the answer on our Gene
Testing Web page.
Q. Does behavior
have a biological basis? Are our actions and emotions related to our genetic makeup?
See the answer on our Behavioral
Genetics Web page.
Q. How can you
be identified by your DNA? What are other applications for DNA forensics? If we
are 99% alike, won't two people likely have the same DNA makeup?
See the answer on our DNA
Forensics page.
Q. How will the
Human Genome Project impact medicine?
See the answer on our Medicine
and the New Genetics Web page.
Q. Where can
I learn about genetic disorders, genes, and proteins?
Use the guides and tutorials available through Gene
Gateway.
Q. Is gene therapy
being used to cure diseases? What is its promise for the future of medicine?
See the answer on our Gene
Therapy Web page.
Q. What is pharmacogenomics?
How will it change my trips to the doctor's office?
See the answer on our Pharmacogenomics
Web page.
Q. What do
genetic counselors do? Why would I need one? How can I become one?
See the answer on our Genetic
Counseling Web page.
return to subject listing at top of
page
Genetics
Q. What's a
genome? And why is it important?
A genome is all the DNA in an organism, including its genes. Genes carry information for making
all the proteins required by all organisms. These proteins determine, among other things, how the
organism looks, how well its body metabolizes food or fights infection, and sometimes even how
it behaves.
DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are
repeated millions or billions of times throughout a genome. The human genome, for example, has
3 billion pairs of bases.
The particular order of As, Ts, Cs, and Gs is extremely important. The order
underlies all of life's diversity, even dictating whether an organism
is human or another species such as yeast, rice, or fruit fly, all of
which have their own genomes and are themselves the focus of genome projects.
Because all organisms are related through similarities in DNA sequences,
insights gained from nonhuman genomes often lead to new knowledge about
human biology.
Q. How big is
the human genome?
The human genome is made up of DNA, which has four different chemical building
blocks. These are called bases and abbreviated A, T, C, and G. In the human
genome, about 3 billion bases are arranged along the chromosomes in a particular
order for each unique individual. To get an idea of the size of the human genome
present in each of our cells, consider the following analogy: If the DNA sequence
of the human genome were compiled in books, the equivalent of 200 volumes the
size of a Manhattan telephone book (at 1000 pages each) would be needed to hold
it all.
It would take about 9.5 years to read out loud (without stopping) the 3 billion
bases in a person's genome sequence. This is calculated on a reading rate of
10 bases per second, equaling 600 bases/minute, 36,000 bases/hour, 864,000 bases/day,
315,360,000 bases/year.
Storing all this information is a great challenge to computer experts known
as bioinformatics specialists. One million bases (called a megabase and abbreviated
Mb) of DNA sequence data is roughly equivalent to 1 megabyte of computer data
storage space. Since the human genome is 3 billion base pairs long, 3 gigabytes
of computer data storage space are needed to store the entire genome. This includes
nucleotide sequence data only and does not include data annotations and other
information that can be associated with sequence data.
As time goes on, more annotations will be entered as a result of laboratory
findings, literature searches, data analyses, personal communications, automated
data-analysis programs, and auto annotators. These annotations associated with
the sequence data will likely dwarf the amount of storage space actually taken
up by the initial 3 billion nucleotide sequence. Of course, that's not much
of a surprise because the sequence is merely one starting point for much deeper
biological understanding!
Contributions to this answer were made by Morey Parang and Richard Mural formerly
of Oak Ridge National Laboratory; and Mark Adams formerly of The Institute
of Genome Research.
Q.
How many genes are in the human genome? The current consensus
predicts about 20,000-25,000 genes, but not all genome scientists
agree. For more information, see the Web
page that addresses this question.
Q. Whose
genome is being sequenced in the public (HGP) and private projects?
See answer on the Facts About Genome Sequencing page.
Q. Where can
I find maps of genes that have been found on different chromosomes?
See the online poster, Human
Genome Landmarks: Selected Traits and Disorders Mapped to Chromosomes.
This poster provides chromosome-by-chromosome maps of some of the genes,
traits, and disorders that have been linked to each chromosome. These
maps were generated using the Online
Mendelian Inheritance in Man database.
The Genome Database (GDB) and the
Human Genome Map
Viewer available through the National Center for Biotechnology (NCBI)
are other resources that you can use to browse the genome. See an introductory
tutorial
on using NCBI's Map Viewer to find a gene on a chromosome map.
Q. What is DNA
sequencing, and how is it done?
See the answer on the Facts About Genome Sequencing page.
Q. Why is model
organism research important? How closely related are mice and humans? Why do we
care what diseases mice get?
See the answer
on the Functional and Comparative Genomics Fact Sheet.
Q. What
genomes have been sequenced completely?
See the answer
on the Functional and Comparative Genomics Fact Sheet.
Q. What
are the comparative genome sizes of humans and other organisms being studied?
See the answer
on the Functional and Comparative Genomics Fact Sheet.
Q. What is jumping
DNA?
Nearly half of the human genome is composed of transposable elements or jumping
DNA. First recognized in the 1940s by Dr. Barbara McClintock in studies of
peculiar
inheritance patterns found in the colors of Indian corn, jumping
DNA refers to the idea that some stretches of DNA are unstable and "transposable,"
i.e., they can move around—on and between chromosomes.
This theory was confirmed in the 1980s when scientists observed jumping DNA
in other genomes. Now scientists believe transposons may be linked to some genetic
disorders such as hemophilia, leukemia, and breast cancer. They also believe
that transposons may have played critical roles in human evolution.
McClintock received a Nobel prize in 1983 for her discovery—making her one
of only two women ever to receive an unshared Nobel prize in science. The other
was Marie Curie.
To learn more about McClintock and her research, see
Q. What is
cloning?
See the answer
on the Cloning fact sheet Web page.
This Web site is being
continuously updated, and HGMIS appreciates your
input. Please send updates, questions, or comments to martinsa@ornl.gov.
Send the url of this page to a friend
|