JAWAHAR NAVODAYA

VIDYALAYA
Chandrapur

Investigatory Project of Biology on

“Human Genome Project”
Session:- 2023-24

Prepared By :- Guided By :-
Name :- Rhutik R. Kunbhare Ms. Juli Pal Mam
Class :- XIIth ‘Science’ P.G.T. Biology
Roll No. :- 1222
 Certificate

This is to certify that Mr. Rhutik R. Kunbhare of class XII has

completed his Investigatory Project on the topic 'Human
Genome Project’ under the guidance of Ms. Juli Pal Mam
(P.G.T. Biology) during the academic year 2023-24.

Signature Signature
Ms. Juli Pal Mam Examiner
P.G.T. Biology

Signature
Miss. Meena Mani
Principal
J.N.V. Chandrapur
 Acknowledgment

I would like to express my special thanks to my Biology

teacher Ms. Juli Pal Mam for their able guidance and
support in completing my Investigatory Project on the
Topic ‘Human Genome Project.’
I would also like to extend my gratitude to Principal Mam
Ms. Meena Mani for providing me with all the facility that
was required.
I would also like to thank my Parents and Friends for the
support and help they provided me in every possible way.

Date : Rhutik R. Kunbhare

Class XII ‘Sci’
 Contents

 Abstract
 Why We Study Our Genome
 Human Genome Project
 Findings
 Accomplishments
 Ethical, Legal, and Social Issues
 Observations
 Conclusions
 Reference
2)
 Abstract

Although every person on our planet is built from

the same blueprint, not two people are the same. While we are
similar enough to distinguish ourselves from other living
creatures. We also celebrate our uniqueness.

So, what is it which makes us all human, yet unique?

Our DNA
Our DNA (Deoxyribose Nucleic Acid) is found in the nucleus
of every cell in our body(Apart from RBCs, which do not
have a nucleus). DNA is a long Molecule, made up of lots of
smaller units. To make a Basic molecule of DNA you need :
 Nitrogenous Bases
There are 4 types of these:-
1. Adenine (A)
2. Thymine (T)
3. Guanine (G)
4. Cytosine (C)

 Carbon Sugar
Molecules &
Phosphate
Molecules

‘The Double Helical

Structure of DNA’
If you take one each of the four Nitrogenous Bases and put it
together with a Sugar molecule and a Phosphate molecule,
you will get the smallest unit of DNA. The Sugar and
Phosphate molecules connect the nucleotide bases to form a
single strand of DNA. Two of the strands then wind around
each other making a twisted ladder shape of DNA double
helix.
The nucleotide bases pair up to make rings of the ladder, and
the sugar and phosphate molecules make the sides. The bases
pair up together in specific combinations: A always pair with
T, and C always pair 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 meter long. It's the
order in which the base pair is arranged their sequence in our
DNA that provides the blueprint of all living things and makes
what we are.
 The DNA of the base pair in a fish's DNA is different
from those in a monkey's. The base pair sequence of all
people is nearly identical that's makes us all humans.
However, there are small differences in the order of the three
million base pair in everyone's DNA that causes the variation
we see in hair color, eye color, nose shape, etc. No two people
have the same DNA sequence. We get out 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 when they come together to
form a baby, the baby has the normal two copies .

Why Study Our Genome

 Working out the sequence in 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 brain powers
than other animals and plants, and what happens in the body
to cause cancer. But establishing the sequence of the three
billion base pairs is a big task. The great and ambitious
research program that sought to do this is called 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 replicated within the bacterial cell many times and every
time the bacterial cell divides, the new cells also contain the
introduced Francis Collins, former director of the National
Human Genome Research Institute, who led the Human
Genome Project. A cell in the human body is simply invisible
to the naked eye, a microscope is essential to view them.
A human DNA which is about 2m long gets packed so
well that it fits into the cell nucleus, then think of the
difficulty in viewing DNA fragments. 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 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 percent 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 did not get used. The
important role the 'junk' DNA plays in gene regulation was
not 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 founded by leading scientists to coordinate the massive
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 finished, 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 June 2000.
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.

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
distinct functions and may be translated into several different
versions active in different tissues.

We also have a lot of extra DNAS that do not make up

specific genes. So even though the puffer fish Tetraodon
nigroviridis has more genes than we do 28,000 the size of its
entire genome is 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 modern technology known as
RNA-Seq 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 rely 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 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, of all 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.
 Accomplishments
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 roots of
genetic diseases, 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 a patient's whole genome. So, the
national institutes of Health embraced the idea of "shortcut
which was to look just at sites on the genome where many
people have a variant DNA unit 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.).

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 mapped to chromosomes before being selected for
sequencing.
Funding came from the US government through the
National Institutes of Health in the United States, and a UK
charity organization, the Wellcome Trust, as well as numerous
other groups from around the world.
 Ethical, legal, And Social Issues
At the onset of the Human Genome Project, several ethical,
legal, and social concerns were raised regarding 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.

Conclusions
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 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 (POWER) COMES WITH HUGE

NEW RESPONSIBILITIES.’

References
 The Human Genome Project Book (By Thomas Lee)
 Genome: An Autobiography of 23 Species Book (By Matt
Ridley)
 Help from the Internet & Wikipedia
 Articles around Websites
 https://www.genome.gov/
 https://www.researchgate.net/
 https://en.wikipedia.org/wiki/Human_Genome_Project
 Help from the Teacher
 Comprehensive Lab Manual (By J.P. Sharma)