BIOLOGY PROJECT

HUMAN GENOME
PROJECT

SRI KRISH INTERNATIONAL

SCHOOL (CBSE)

H DONE BY:
DHEEKSHANYA KUMARI R
 BONAFIDE CERTIFICATE

This is to certify that R. DHEEKSHANYA KUMARI, a student of Grade

XII has successfully completed Biology project entitled ‘Human

Genome Project’ under the guidance of Mrs. D. Tamilarasi (PGT

BIOLOGY) during the academic year 2023-2024 in partial fulfillment of

Biology practical examination conducted by SSCE , New Delhi.

REGISTER NUMBER:

DATE OF EXAMINATION:

INTINTERNAL EXAMINER EXTERNAL EXAMINER

PRINCIPAL
ACKNOWLEDGEMENT
I would like to express my special thanks of gratitude to
Mr. Dr. R. KRISHNAMOORTHY, CHAIRMAN SIR, Sri Krish
International School for providing me with all the facility that was
required to complete my project.

I am thankful to Mrs. Dr.S.UDAYA CHITRA, SENIOR VICE

PRINCIPAL, Sri Krish International School for her valuable
guidance and for her constant encouragement.

It gives me great pleasure to extend my special thanks to my

biology teacher Mrs.D. Tamilarasi (PGT BIOLOGY) for her
guidance, support& encouragement throughout the duration of the
project. Without her motivation and help, the successful completion of
this project would not have been possible.

I like to thank Mrs. M. Kalaiselvi, Lab Incharge for helping me

out during the practical part of this project & all those who have
helped me to complete this project on time.
CONTENTS
 Introduction
 Why Study Our Genome?
 Human Genome Project
 Ethical, Legal and Social Issues
 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.

THE STUFF THAT MAKES US WHO WE ARE

Our DNA (Deoxyribo Nucleic Acid) is found in the nucleus of every cell in our body
(apart from red blood cells, which don’t have a nucleus). DNA is a long molecule, made
up of lots of smaller units. To make a DNA molecule you need:

o nitrogenous bases—there are four of these: adenine (A), thymine (T),

cytosine (C), guanine(C)

o carbon sugar molecules

o phosphate molecules
 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 makes 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 DNA—the human
genome. This amounts to a DNA molecule about a metre long.

It’s the order in which the base pairs are arranged—their

sequence — in our DNA that provides the blueprint for all living
things and makes us what we are. The DNA sequence of the
base pairs in a fish’s DNA is different to those in a monkey.

The base pair sequence of all people is nearly identical—

that’s what makes us all humans. However, there are small
differences in the order of the three billion base pairs in
everyone’s DNA that cause the variations we see in hair colour,
eye colour, nose shape etc. No two people have exactly the
same DNA sequence (except for identical twins, because they
came from a single egg that split into two, forming two copies of
the same DNA).

Identical Twins

Population with wide range of

characters

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.
 WHY STUDY OUR GENOME?
Working out the sequence of the base pairs in all our genes
enables us to understand the code that makes us who we are.
This knowledge can then give us clues on how we develop as
embryos, why humans have more brainpower than other animals
and plants, and what happens in the body to cause cancer. But
establishing the sequence of three billion base pairs is a BIG task.
The great and ambitious research program that sought to do this
was called the Human Genome Project.

Francis Collins, former director of the

National Human Genome Research Institute,
led the Human Genome Project.

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 didn’t get used. The important role the ‘junk’
DNA plays in gene regulation wasn’t yet appreciated.

Research groups in many

countries, including
Australia, began to
sequence different genes,
providing the beginnings of
a total human gene map. In
1989, the Human Genome
Organization (HUGO) was
A cell in human body is simply invisible to naked
eye, Microscopes are essential to view them. A found by leading scientists
Human DNA which is about 2m long gets packed
so well that it fits into cell nucleus, then think of the
to coordinate the massive
difficulty in viewing a DNA

International effort involved in collecting sequence data to unravel

the secrets of our genes.
 HUMAN GENOME PROJECT
The Human Genome Project aimed to map the entire genome,
including the position of every human gene along the DNA strand, and then
to determine the sequence of each gene’s base pairs. At the time,
sequencing even a small gene could take months, so this was seen as a
stupendous and very costly undertaking. Fortunately, biotechnology was
advancing rapidly, and by the time the project was finishing it was possible
to sequence the DNA of a gene in a few hours. Even so, the project took
ten years to complete; the first draft of the human genome was announced
in June2000.

In February 2001, the publicly funded Human Genome Project and the
private company Celera both announced that they had mapped virtually all
of the human genome, and had begun the task of working out the functions
of the many new genes that were identified. Scientists were surprised to
find that humans only have around 25,000 genes, not much more than the
roundworm Caenorhabditis elegans, and less than a tiny water crustacean
called Daphnia, which has around 30,000. However, genome sequencing
was making it clear that an organism's complexity is not necessarily related
to its number of genes.

Human genes categorized by function of the transcribed proteins, given both as

number of encoding genes and percentage of all genes.
 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 doesn’t make up specific genes. So even though the puffer fish
Tetraodon nigroviridis has more genes than we do—nearly 28,000—the
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 The first printout of the human genome to be presented as a
new technology known as series of books, displayed at the Wellcome Collection,
London

RNA-sequence was introduced that allowed scientists to directly sequence

the messenger RNA in cells. This replaced previous methods of
annotation, which relied on inherent properties of the DNA sequence, with
direct measurement, which was much more accurate. Today, annotation of
the human genome and other genomes relies primarily on deep
sequencing of the transcripts in every human tissue using RNA-seq. These
experiments have revealed that over 90% of genes contain at least one
and usually several alternative
S
splice variants, in which the exons are
e 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

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 t 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 basebase-pairs.
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
ant 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
e 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.)
The genome was broken
into smaller pieces;
approximately 150,000
base pairs in length. These
pieces were then ligated
into a type of vector known
as "bacterial artificial
chromosomes", or BACs,
which are derived from
bacterial chromosomes
which have been
genetically engineered. The
vectors containing the
genes can be inserted into
bacteria where they are
copied by the bacterial DNA
replication machinery. Each
of these pieces was then
sequenced separately as a
small "shotgun" project and
then assembled. The larger,
150,000 base pairs go
together to create
chromosomes. This is
known as the "hierarchical
shotgun" approach,
because the genome is first
broken into relatively large
chunks, which are then
A, For each Tetraodon chromosome, coloured segments mapped to chromosomes
represent conserved synteny with a particular human before being selected for
chromosome. Synteny is defined as groups of two or
more Tetraodon genes that possess an orthologue on the same
sequencing. Funding came
human chromosome, irrespective of orientation or from the US government
order. Tetraodon chromosomes are not in descending order by through the National
size because of unequal sequence coverage. The entire map Institutes of Health in the
includes 5,518 orthologues in 900 syntenic segments. B, On United States, and a UK
the human genome the map is composed of 905 syntenic
segments. See Supplementary Information for the synteny map
charity organization,
between Tetraodon and mouse. the Wellcome Trust, as well
as numerous other groups
from around the world.
 ETHICAL, LEGAL &SOCIAL
ISSUES
At the onset of the Human Genome Project several ethical, legal, and
social concerns were raised in regards to how increased knowledge of the
human genome could be used to discriminate against people. One of the
main concerns of most individuals was the fear that both employers and
health insurance companies would refuse to hire individuals or refuse to
provide insurance to people because of a health concern indicated by
someone's genes. In 1996 the United States passed the Health Insurance
Portability and Accountability Act (HIPAA) which protects against the
unauthorized and non-consensual release of individually identifiable health
information to any entity not actively engaged in the provision of healthcare
services to a patient.
Along with identifying all of the
approximately 20,000–25,000 genes in
the human genome, the Human Genome
Project also sought to address the ethical,
legal, and social issues that were created
by the onset of the project. For that the
Ethical, Legal, and Social Implications
(ELSI) program was founded in 1990.
Five percent of the annual budget was
allocated to address the ELSI arising from
the project. This budget started at
approximately $1.57 million in the year
1990, but increased to approximately $18
million in the year 2014.
Whilst the project may offer significant benefits to medicine and
scientific research, some authors have emphasized the need to address
the potential social consequences of mapping the human genome.
"Molecularising disease and their possible cure will have a profound impact
on what patients expect from medical help and the new generation of
doctors' perception of illness."
 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.

A researcher reviews a DNA

sequence.
 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
anemia). 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.
 BIBLIOGRAPHY

 wikipedia.org
 www.genome.gov
 britannica.com
 geeksforgeeks.org
 sciencedirect.com