The document provides an overview of the Human Genome Project, highlighting its key achievements in mapping the human genome, which contains over 3 billion nucleotide pairs and around 30,000 genes. It discusses the complexities of the genome, such as the presence of repetitive DNA and the challenges posed by genetic privacy, as well as the implications of genomic research on disease diagnosis and treatment. The document also mentions the project's international collaboration and its significant impact on biotechnology and medical research since its completion in 2003.

1. KARNATAKA STATE-AKKAMAHADEVI WOMEN’S UNIVERSITY
VIJAYPUR,
DEPARTMENT OF BIOINFORMATICS.
MSC III SEM 2020
Genomics, Proteomics and System Biology
PAPER CODE : BI. HCT- 3.1
SEMINAR ON
Human Genome Project
Under the Guidance of
Ms. Shivleela
PRESENTED BY
NUSRAT M G

2.  The human genome is the complete set of genetic information for humans. (Homo
sapiens). The human genome is by far the most complex and largest genome..
 Its size spans a length of about 6 feet of DNA, containing more than 30,000 genes.
 The DNA material is organized into a haploid chromosomal set of 22 (autosome)
and one sex chromosome (X or Y).
Male Female

3.  Human genome consists the information of 24 chromosomes (22 autosome + X
chromosome + one Y chromosome); in Homo sapiens 2n = 2x = 46
 The human genome contains over 3 billion nucleotide pairs.
 Average gene consists of 3000 bases. But sizes of genes vary greatly, with the
largest known human gene encoding dystrophin containing 2.5 million base pairs.
 Only about 3 % of the genome encodes amino acid sequences of polypeptides and
rest of it junk (repetitive DNA).
 The functions are unknown for over 50% of the discovered genes.
 The cell has many organelles within where the mitochondria is one of its part , each
cell has multiple mitochondria where Each mitochondrion has its own DNA (set of
genes).

4.  There are many diseases caused by mutations in mitochondrial DNA (mtDNA) like
deafness
 The repetitive sequences makeup very large portion of human genome. Repetitive
sequences have no direct coding function but they shed light on the chromosome
structure, dynamics and evolution.
 Chromosome 1 has most genes (2968) and Y chromosome has the lowest (231).
 Almost all nucleotide bases are exactly the same in all people. Genome sequences
of different individuals differ for less than 0.2% of base pairs.
Most of these differences occur in the form of single base differences in the
sequence. These single base differences are called single nucleotide
polymorphisms (SNPs). One SNP occurs at every ~ 1,000 bp of human genome.
About 85% of all differences in human DNAs are due to SNPs.

5. It’s a research program in which scientists all over the
world tried to gain an understanding of human genes and
where they are located on the human genome.

6. The Human Genome Project was an
international research effort to determine the
sequence of the human genome and
identify the genes that it contains.
The Project was coordinated by the
National Institutes of Health and the U.S.
Department of Energy. Additional
contributors included universities across the
United States and international partners in
the United Kingdom, France, Germany,
Japan, and China.

7.  The Human Genome Project
 Celera genome sequencing project

8. The Human Genome Project Funded by the US Department of Energy, and
Celera Genomics, a private company.
The Human Genome Project - 3 X 10 ^9 b.p long and cost U.S $ 3 (US
Dollars) for 1 b.p. so total cost will be around 9 billion U.S $
Storage : if each page has 1000 letters and each book has 1000 pages then
3300 books are required to store that information .
HGP is related to which requires high speed
computer devices for storage, retrieval and analysis and processing of data
with accuracy.
There are some ethical, legal and social issues (ELSI)

9. 1986 The birth of the Human Genome Project.
1990 Project initiated as joint effort of US Department of Energy and the National
Institute of Health.
1994 Genetic Privacy Act: to regulate collection, analysis, storage and use of DNA
samples and genetic information is proposed.
1996 Welcome Trust joins the project.
1998 Celera Genomics (a private company founded by Craig Venter) formed to sequence
much of the human genome in 3 years.
1999 Completion of the sequence of Chromosome 22-the first
human chromosome to be sequenced.
2000 Completion of the working draft of the entire human genome.
2001 Analysis of the working draft are published.
2003 HGP sequencing is completed and Project is declared finished

10. - all the approximately 20,000-25,000 genes in human DNA.
- the sequences of the 3 billion chemical base pairs that
make up human DNA.
- this information in databases.
- tools for data analysis.
- related technologies to the private sector.
- the ethical, legal, and social issues (ELSI) that may arise
from the project.
It also aimed to sequence the genomes of several other organisms that are
important to medical research, such as the mouse and the fruit fly.
1
2
3
4
5
6
Identify
Determine
Store
Improve
Transfer
Address

11. Scientists get large samples of human DNA and use
gene mapping techniques to find where on the genome
certain genes, like those for diseases, can most likely be
found.

12.  DNA Sequencing
 Employment of Restriction Fragment-Length Polymorphisms (RFLP).
 Yeast Artificial Chromosomes (YAC) is a vector (carrier) created and used in the
laboratory to clone pieces of DNA.
 Bacterial Artificial Chromosomes (BAC) is a large segment of DNA (100,000—
200,000 b p) from another species cloned into bacteria.
 The Polymerase Chain Reaction (PCR).
 Electrophoresis.

13. Scientists wanted to:
 Complete a detailed human genetic
map
 Complete a physical map
 Acquire the genome as clones
 Determine the complete sequence
 Find all the genes

14. Having a better knowledge of the human genome can:
 Lead to better diagnosis of diseases and earlier detections
of predisposition to that disease
 Allow new biofuels to be made
 Help identify criminals
 Teach us how humans evolved and continue to evolve

15. YESTERDAY
 Just a half-century ago, very little was known about the genetic factors that contribute to
human disease
 The Human Genome project spurred a revolution in biotechnology innovation around the
world
 In April 2003, researchers successfully completed the Human Genome Project
TODAY
 The Human Genome Project has already fueled the discovery of more than 1,800
disease genes
 As a result of the Human Genome Project, today’s researchers can find a gene suspected
of causing an inherited disease in a matter of days, rather than the years it took before the
genome sequence was in hand

16.  An ambitious new initiative, The Cancer Genome Atlas aims to identify all the
genetic abnormalities seen in 50 major types of cancer.
 Based on a deeper understanding of disease at the genomic level, we will see a
whole new generation of targeted interventions, many of which will be drugs that
are much more effective and cause fewer side effects than those available today.

17.  Identification of human genes and their functions.
 Understanding of polygenic disorders e.g. cancer, hypertension, diabetes.
 Improvements in gene therapy & Improve in diagnosis of diseases
 Development of pharm-cogenesis.
 Genetic basis of psychiatric disorders.
 Understanding of complex social trait.
 Improved knowledge on mutations.
 Better understanding of developmental biology.
 Development of biotechnology.

18.  The HGP is mainly used by humans
 The HGP is used on crops
 Animals
 Sterilization

19. Pros
 Successfully identifies where the
genes of DNA are located in the
body
 Genetically modify foods
 Make crops grow faster and more
resistant to pesticides
 Mapping can locate cancer cells
and mental illnesses
 Can identify if the fetus has
genetic mutations in the womb
 Research costs a lot of money
 People are afraid of
discrimination of genes
 People don’t support gene
therapy because it’s “against
nature”
Cons

20. • Weaver RF 2005. Molecular Biology. McGraw-Hill International edition, NY.
• Gardner EJ, MJ Simmons and DP Snustad 1991. Principles of Genetics. John
Wiley and Sons Inc, NY.
• Internet
• "An Overview of the Human Genome Project." An Overview of the Human
Genome Project. Web. 23 May 2012. <http://www.genome.gov/12011238>.
• "What Is Genetic Mapping?" What Is Genetic Mapping? Web. 23 May
2012.
<http://www.hopkinsmedicine.org/epigen/what_is_genetic_mapping.htm>.
• "To Know Ourselves: Introducing the Human Genome." To Know Ourselves:
Introducing the Human Genome. Web. 23 May 2012.
<http://www.ornl.gov/sci/techresources/Human_Genome/publicat/tko/0
3_introducing.html>.