GUIDANCE ENGLISH

MEDIUM SCHO0L

Plot No. 1125/1, Dumduma HB Colony,

Dumduma, Bhubaneswar - 751019

HEDIUMSCHOO,

A Project On : Human Genome Project

Jyoti Prakash Mohapatra Mrs Sushree Sangita Behera

Class XII HOD, Biology
Roll No.26S4 6 14 Department of Biology
 BONAFIDE CERTIFICATE

This is to certify that Jyoti Prakash Mohapatra of the class XII,

roll number ?6546 |9 has completed his CBSE Biology
Investigatory Project on the topic, "Human Genome Project"

This project has been done under the guidance of Biology

teacher.

8SR-19
Mr. Sushree Sangita Behera Mrs. Suhasini Pattanaik
HODBiology Principal
 CERTIFICATE

This is to certify that this project report on, Human Genome

Project' is a bonafide record work done by Jyoti Prakash Mohapatra
of Guidance English Medium School bearing roll number
who carried out the project for the fulfillment of AISSCE
Examination of CBSE under my supervision and guidance during the
session 2022-23.

aEDU
BSR-19

Mrs Suhasini Pattanaik MrsSushrée Sangita Behera

Principal HODBiology
Guidance English Medium
School
 DECLARATION

I hereby declare that the project, Human Genome Project"

submitted to Mrs Sushree Sangita Behera is a record of an original
work done by me gaining the knowledge related to the project from
certain sources.

]yoti Prakash Mohapatra

 ACKNOWLEDGEMENT

In the accomplishment of this project successfully many people

have bestowed upon me their blessings and their heart pledged
support, this time Iam utilizing to thank all people whohave been
concerned with the project.

Iexpress my sincere gratitude to the Principal of Guidance

English Medium School, Bhübaneswar for her support in the
preparation of this project.

I would acknowledge the guidance given by our project

coordinator for the vision to foster the topic.
Contents
A Introduction
A Why Study Our Genome?
A Human Genome Project
A Ethical, Legal and Social Issues
A Observation
A 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
Iiving 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 NucleicAcid) isfound in the nucleus of
every cell in our body (apart from red blood cells, which
don't have anucieus). DNAis along molecule, made up of
lots of smaller units. To make a DNA molecule you need:
nitrogenous bases-there are four of these: adenine (A),
thymine (), cytosine (C), guanine (C)
carbon sugar molecules
phosphate molecules
If you take one of the four nitrogenous bases, and put it
together with a sugar molecule and a phosphate molecule,
youget a nucleotide base. The sugar and phosphate molecules
connect the nucleotide bases together to form asingle 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:Aalways pairs with T, and C
always pairs with G to make base pairs.
Parental Parental
strand
strand#)G DNA
Key:
Thymine
LAKAdenine
Cytosine
G I Guanine
Ay Deoxyribose sugar
Phosphate
Hydrogen bond
ARReplication

Nucleotide
Histone Tals

Histeses

ChrumKÖMe
Daughter
Parental Daughter strand Parental
strand strand forming strand

Put three billionof these base pairs together in the right order.
and vou have a complete set of human DNA-the human
genome. This amounts to a DNAmolecule about a metre long.

It's the order in which the base pairs are arranged-their

sequence-inour DNA that provides the blueprint for all living
things and makes us what we are. The DNA sequence of the
base pairs in afish'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'sDNA 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, becausethey
came from asingle egg that split into two, forming two copies
of the same DNA).

ldentical Twins

Population vih 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 onecopy of each chromosome
sothat when they come together to form a baby, the baby has
the normal 2 copies. Three billion is alot of base pairs, and
togetherthey contain an enormous amount of information.
 WHY STUDY OUR GENOME?
Workingout the sequence of the base pairs in all our genes
enables us to understand thecode that makes us whowe 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 inthe 1970s,
when scientists learned how to 'clone' small bits of DNA,
around the size of agene. To clone DNA, scientists cut out a
fragment of human DNA from the long strand and then
incorporate it into the genome of abacteria, or a bacterial
virus. Thefragment is then is replicated within the bacterial
cell many times and every time the bacterial cell divides, the
new cells also contain the introduced DNA fragment. 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 theentire 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
regulationwasn't yet appreciated. Cell
DNA

Research groups in many countries,

including Australia, began to sequence
different genes, providing the
beginnings of a total human gene map. Nucieus Chromosome

In 1989, the Human Genome A cell in human body is simply

invisible to naked eye, Microscopes
Organization (HUGO) was found by are essential to view them. A

leading scientists to coordinate the Human DNA which is about 2m long

gets packed so well that fits into
massive Internationaleffort involved in cell nucleus, then think of the
collecting sequence data to unravel the difficulty in viewing aDNA.
secrets of our genes.
 HUMAN GENOME PROJECT
The Human Genome Project aimed tomap 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 June 2000.
isomerases: 94: 0.5%
unclassified; 4061; 23,6% -extracellular matrix proteins: 72: 0,4%
receptors; 1076;6,3% -proteases; 476: 2,8%
storage proteins; 15; 0,1 -cytoskeletal proteins; 441; 2,6%
structural proteins; 280; 1,69% -transporters; 1098; 6.4%
Surfactants; 15;0,1% -transmembrane receptor regulatory/
cell junction proteins; 67; 0,49% ladaptor proteins; 84;0,5%
chaperones; 130; 0,8%
-transferases; 1512; 8,8%
transcription factors; 2067; 12,0%
phosphatases; 230; 1,3%
-oxidoreductases; 550, 3,2%
-yases: 104; 0.6%
membrane traffic proteins; 321; 1,9%
-celladhesion molecules; 93; 0,5%
ransfer/carrier proteins; 248; 1,4% -ligases; 260;1,5%
hydrolases; 454; 2,6%
-nucleic acid binding: 1466;8,5%
defenselimmunity proteins; 107: 0,6%
calcium-binding proteins; 63, 0,4% -signaling molecules; 961: 5,6%
viral proteins; 7; 0,0% -enzyme modulators; 857:5,0%

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

number of encoding genes and percentage of all genes.

In February 2001, the publicly funded Human Genome Project

and the private company Celera both announced that they
hadmapped virtually all of the human genome, and had begun
the task of workingout 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 atiny
water crustacean called Daphnia, which has around 30,000.
However, genome sequencing was making it clear that an
organism'scomplexity is not necessarilyrelated 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 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 lessof the non-coding DNA.

In April 2003, the 50th anniversary 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 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-seg. 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
productsfrom 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 genonme 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 samne range as in other manmmals.
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 appearedto be vertebrate specific.
ACCOMPLISHMENT
The Human Genome Project was started in 1990with the
goal of sequencing and identifying all three billion chemical
units in the human genetic instruction set, finding the
genetic rootsof disease andthen 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 behindthe 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.)
 The genome was broken into smaller pieces; approximately
150,000base pairs in length. Thesepieces were then ligated
into a type of vector known as "bacterial artificial

chromosomes", or BACS, which are derived from bacterial

Tetraodon chromosomes
chromosomes which have
been genetically
engineered. The vectors
containing the genes can be
12 3 4 5 6 7 8 9 1011 12 13 14 1516 17 1819 20 21
inserted into bacteria
Human
12 3 4 5 67 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X
where they are copied by
the bacterial DNA
Human chromosomes
replication machinery. Each
of these pieces was then
sequenced separately as a
a "shotgun" project and then
assembled. The larger,

23 4 5 6 7 8 9 101112 13 14 1516 17 18 19 20 21 22 X
150,000 base pairs go
Tetraodon together to create
1 2 3 4 5 6 7 89 10 11 12 13 14 15 16 17 18 19 2021

A, For each Tetraodon chromosome, coloured segments

represent chromosomes. This is
chromosome. Synteny is
conserved synteny with a particular human
defined as groups of two or more Tetroodon genes that
chromosome,
possess an
irrespective of
knownas the "hierarchical
orthologue on the same human
orientation or order. Tetraodon chromosomes are
not in an
coverage. The
shotgun" approach,
descending order by size because of unequal sequence
segments. B,
entire map includes 5,518 orthologues in
On the human genome the map is
900
composed
synthetic
of 905 synthetic because the genome is
synteny map
segments. See Supplementary Information for the
first broken into relatively
between Tetraodon and mouse

large chunks, which are

then mapped to chromosomes before being selected for
sequencing. Funding came from the US government
through the National Institute of Health in the United
States, and a UK charity organisation, the Well come Trust.
the world.
as well as numerous other groups from around
 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
9
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 Portabilityand Accountability Act
(HIPAA) which protects against the unauthorized and non
Consensual release of individually identifiable health
information to anyentity 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 HumanGenome 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.
the
Five percent of the annual budget was allocated to address
ELSI arising from the project. This budget started at
approximately $1.57 million in theyear 1990, but increased to
approximately $181 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 socialconsequences 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."

GOD. THE DAMN

HACKERS!!
HUMAN GENO ME
CO DE'S BEEN NOW, I HAVE
UNRAVELLED TOCHANGE THE
PASSWORD
 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.

Aresearcher reviews a DNAsequence

 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,
cysticfibrosis 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 byemployers 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 allowgene testing to choose achild who will be able
to be better at sports, or more intelligent? What about sex
selection, already aproblem in some countries? And will it
become possible to use genetic information to change genes
in childrenor adults for the better? Dowe 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 ona 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.