Professional Documents
Culture Documents
Kamala Niketan
Montessori
school
HUMAN GENOME
PROJECT (HGP)
M.NAVEEN DOSS
XII - D
ACKNOWLEDGEMENT
I would like to express my special thanks of gratitude to my
Biology teacher Mrs. Praveena as well as our principal Mrs.
Mala Sivakumar who gave me the golden opportunity to do
this wonderful report on the topic Human Genome Project
(HGP), which also helped me in doing a lot of Research and
I came to know about so many new things.
Secondly I would also like to thank my parents and friends
who helped me a lot in finishing this project within the limited
time.
I am making this project not only for marks but to also
increase my knowledge.
I ONCE AGAIN THANK EVERYBODY WHO HAS
HELPED ME IN ACCOMPLISHING MY JOB
CONTENTS
Introduction
Observation
Conclusion
INTRODUCTION
Although every person on our planet is built from the same
blueprint, no two people are exactly the same. While we are
similar enough to readily distinguish ourselves from other living
creatures we also celebrate our individual uniqueness. So what is
it that makes us all human, yet unique? Our DNA.
If you take one of the four nitrogenous bases, and put it together
with a sugar molecule and a phosphate molecule, you get a
nucleotide base. The sugar and phosphate molecules connect the
nucleotide bases together to form a single strand of DNA.
Two of these strands then wind around each other, making the
twisted ladder shape of the DNA double helix. The nucleotide
bases pair up to make rungs of the ladder, and the sugar and
phosphate molecules make the sides. The bases pair up together
in specific combinations: A always pairs with T, and C always
pairs with G to make base pairs.
Put three billion of these base pairs together in the right order,
and you have a complete set of human DNAthe human
genome. This amounts to a DNA molecule about a metre long.
Its the order in which the base pairs are arrangedtheir
sequencein our DNA that provides the blueprint for all living
Identical Twins
We get our DNA from our parents. The DNA of the human
genome is broken up into 23 pairs of chromosomes (46 in total).
We receive 23 from our mother and 23 from our father. Egg and
sperm cells have only one copy of each chromosome so that
when they come together to form a baby, the baby has the normal
2 copies. Three billion is a lot of base pairs, and together they
contain an enormous amount of information.
The idea of the Human Genome Project was born in the 1970s,
when scientists learned how to clone small bits of DNA, around
the size of a gene. To clone DNA, scientists cut out a fragment of
human DNA from the long strand and then incorporate it into the
genome of a bacteria, or a bacterial virus. The fragment is then is
replicated within the bacterial cell many times and every time the
bacterial cell divides, the new cells also contain the introduced
D
DNA fragment. Bacterial cells reproduce prolifically, and so this
process ends up making millions of cells that all contain the
introduced DNA fragment, enough that researchers can study it in
detail and figure out the sequence of the base pairs.
With time, researchers have been able to study an ever greater
number of different DNA fragments, that is, different genes. It
became clear that certain variant DNA sequences were
associated with particular conditions: diseases such as cystic
fibrosis or breast cancer, or normal, non-harmful variants like red
hair. There was initially a lot of opposition to the Human Genome
Project, even from some scientists. Considering only around 1.5
per cent of our genome is actual genes that code for proteins, it
was thought that much of the $3 billion cost to sequence the
entire human genome would be wasted on the junk DNA that
scientists thought didnt get used. The important role the junk
DNA plays in gene regulation wasnt yet appreciated.
Also, while we might have a surprisingly small number of genes, they are
often expressed in multiple and complex ways. Numerous genes have as
many as a dozen different functions and may be translated into several
different versions active in different tissues. We also have a lot of extra
DNA that doesnt make up specific genes. So even though the puffer
fishTetraodon nigroviridis has more genes than we donearly 28,000the
size of its entire genome is actually only around one tenth of ours as it has
much less of the non-coding DNA.
In April 2003, the 50th anniversary of the publication of the structure of
DNA, the complete final map of the Human Genome was announced. The
DNA from a large number of donors, women and men from different
nations and of different races, contributed to this typical Human Genome
Sequence.
The process of identifying
the boundaries between
genes and other features
in a raw DNA sequence is
called genome
annotation and is in the
domain of bioinformatics.
While expert biologists
make the best annotators,
their work proceeds slowly,
and computer programs
are increasingly used to
meet the high-throughput
demands of genome
sequencing projects.
Beginning in 2008, a new
technology known as RNAseq was
S
splice variants, in which the exons are combined in different ways to
produce 2 or more gene products from the same locus.
The genome published by the HGP does not represent the sequence of
every individual's genome. It is the combined mosaic of a small number of
anonymous donors, all of European origin. The HGP genome is a scaffold
for future work in identifying differences among individuals. Subsequent
projects sequenced the genomes of multiple distinct ethnic groups, though
as of today there is still only one "reference genome.
FINDINGS
Key findings of the draft (2001) and complete (2004) genome sequences
include:
1. There are approximately 22,300 protein-coding genes in human
beings, the same range as in other mammals.
2. The human genome has significantly more segmental
duplications (nearly identical, repeated sections of DNA) than had
been previously suspected. At the time when the draft sequence was
published fewer than 7% of protein families appeared to be
vertebrate specific.
ACCOMPLISHMENT
The Human Genome Project was started in 1990 with the goal of
sequencing and identifying all three billion chemical units in the human
genetic instruction set, finding the genetic roots of disease and then
developing treatments. It is considered a Mega Project because the human
genome has approximately 3.3 billion base-pairs. With the sequence in
hand, the next step was to identify the genetic variants that increase the
risk for common diseases like cancer and diabetes.
It was far too expensive at that time to think of sequencing patients whole
genomes. So the National Institutes of Health embraced the idea for a
"shortcut", which was to look just at sites on the genome where many
people have a variant DNA unit. The theory behind the shortcut was that,
since the major diseases are common, so too would be the genetic variants
that caused them. Natural selection keeps the human genome free of
variants that damage health before children are grown, the theory held, but
fails against variants that strike later in life, allowing them to become quite
Common. (In 2002 the National Institutes of Health started a $138 million
dollar project called the Hap Map to catalog the common variants in
European, East Asian and African genomes.)
OBSERVATION
The project was not able to sequence all the DNA found in human cells. It
sequenced only "euchromatic" regions of the genome, which make up
more than 95% of the genome. The other regions, called
"heterochromatic" are found in centromeres and telomeres, and were not
sequenced under the project.
The Human Genome Project was declared complete in April 2003. An initial
rough draft of the human genome was available in June 2000 and by
February 2001 a working draft had been completed and published followed
by the final sequencing mapping of the human genome on April 14, 2003.
Although this was reported to cover 99% of the euchromatic human
genome with 99.99% accuracy, a major quality assessment of the human
genome sequence was published on May 27, 2004 indicating over 92% of
sampling exceeded 99.99% accuracy which was within the intended
goal. Further analyses and papers on the HGP continue to occur.
CONCLUSION
There is no doubt that information from the Human Genome Project
provides huge benefits to human health in helping to understand and treat
genetic diseases (such as breast cancer, cystic fibrosis and sickle cell
anaemia). However, some people see ethical issues, and wonder if
scientists are playing God with our genomes.
Could genetic information be misused; for example, through genetic
discrimination by employers or insurance companies? Most people agree
that gene testing can be used ethically to prevent serious diseases such as
cancer, or during pregnancy to avoid the birth of someone with a severe
handicap, but should we allow gene testing to choose a child who will be
able to be better at sports, or more intelligent? What about sex selection,
already a problem in some countries? And will it become possible to use
genetic information to change genes in children or adults for the better? Do
we really want to know if we run the risk of developing a particular disease
that may or may not be treatable? What are the privacy issues regarding
genome screening on a population scale? Still many more such questions
arise and leave us in oblivion of deep thoughts, yet we need to believe in
science and its advancements and realize that with NEW KNOWLEDGE
COMES HUGE NEW RESPONSIBILITIES.