The document discusses the Human Genome Project, which had goals of sequencing the entire human genome to further medical research. It began in 1990 and was led by James Watson, while a private effort by Craig Venter's Celera Genomics also contributed. The first draft of the genome was published in 2001, two years ahead of schedule. The document outlines the hierarchical shotgun and whole genome shotgun strategies used to sequence the genome. Applications of sequencing include identifying disease-causing genes, discovering new genes, determining drug response, and DNA fingerprinting for forensics.

1. Human Genome Project
Dushyant kumar
MSc. II semester
Biotechnology department
G.G.V. Bilaspur
LBTM - 205

2. Contents
 Introduction
 History
 Goals of human genome project
 Strategies used for sequencing
 Applications of genome sequencing
 References

3. Introduction
Genome
Haploid(n) set or number of chromosomes of any organism.
Genome sequencing
Determination of nucleotide sequence.
Human genome sequencing
The project made to sequence human genome and called Human genome project
Human genome
Haploid set of human chromosomes i.e.,22+X+Y, total 24 chromosomes

4. History
1990-
Human Genome Project started which was funded by NIH (National Institute of
Health) & DOE (Department of Energy). The project was led by James Watson.
1998-
Celera Genomics company announced a 3-year plan to complete the project. The
project was led by Craig J. Venter.
2001-
The first draft published in “Science” and “Nature” jornals in February.
2003-
Finished Human Genome sequence & published in “Nature”, 2 years ahead of
schedule.
Image – James watson Image – Craig venter

5. Goals of human genome sequencing
Goals:-
 To create a genetic and physical map of the 24
human chromosomes (22 autosomes, X & Y).
 To identify the entire set of genes & map them
all to their chromosomes.
 To determine the nucleotide sequence of the
estimated 3 billion base pairs.
 To analyze genetic variation among humans.
 To store this information in the databases & to
improve tools for data analysis. Source
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6. Hierarchical shotgun sequencing
• First time sequenced the prokaryotic organism Haemophilus influnzae
In the year 1995. It has genome size of 1,830 kbp.
• This strategy was used by public organization to sequence the genome.
• But it can not be used for sequencing eukaryotic genome, as it has
repetitive regions of DNA.
Strategies used for human genome sequencing
Two strategies were used to sequence human genome
1. Hierarchical shotgun sequencing.
2. Whole genome shotgun sequencing

7. 1. Hierarchical shotgun by Public Human Genome Project.
Whole genome
Fragmented DNA (20 kb size)
Insertion into bacterial
genome(Bacterial artificial
genome)
Overlapped sequences
Overlapped sequence contigs
Master sequence prepared
Whole chromosome sequenced
Bacterial multiplication

8. 2. Whole genome shotgun sequencing
• This one was used by the
private organization, the Celera
Genomics to sequence the
human genome.
• In this approach eukaryotic
genomic DNA is mapped
genetically and physically.
• Here, repetitive DNA can also
be sequenced.
• Genome can be sequenced.

9. Applications of human genome sequences
1. In disease causing gene identification.
2. In discovery of new genes.
3. In determination of drug response.
4. In DNA fingerprinting.

10. Few genes associated with the disease:-
i. Acetoacetyl CoA synthatase (AACS) -tracheal cancer
ii. Angio associated migratory cell protein(AAMP) - colon adenocarcinoma
iii. Apoptosis associated tyrosine kinase (AATK) - neuroblastoma
Diseased person
Disease causing gene is identified
Genomic of
normal individual
(housekeeping gene
Genome of affected
individual
Uploaded to human genome database
To NCBI site.
1. Disease causing gene identification
Consultation with experts
Gene isolation

11. • The most recently discovered gene:
• CYP3A, cytochromeP450, family 3, subfamily A (Homo
sapiens)
• Gene ID- 1574, 17 March 2015.
• At NCBI( National Centre for Biotechnology Information)
database.
• To align the DNA sequence FASTA program is widely
used.
2. In discovery of new genes
Genes are isolated
A B C DKnown genes
X gene
X gene
X gene
X gene
If matching occurs: known
gene
If matching does not
occur: unknown gene
Uploaded to human genome sequence data

12. 3. In determination of drug response
Drug
patient
Drug introduction into body of patient
If drug responded: patient cured
If drug not responded
Genome sequencing
mRNA sequencing
Amino acid sequence
determinationActive site structure determinationDrug design and treatment

13. DNA fingerprinting:-
Also known as DNA typing and DNA profiling. It is a technique used by forensic scientist
to identify individuals by their unique DNA profile. It uses sequences that are highly
variable, called VNTRs (Variable Number Tandem Repeats), STRs (Short Tandem Repeats).
Analysis techniques:-
RFLP (Restriction Fragment Length Polymorphism)
AFLP (Amplified Fragment Length Polymorphism)
4. In DNA fingerprinting
Crime spot: sample collection
DNA fingerprinting Criminal identification punishment

14. References
• Bashyam MD & Hasnain SE, 2003, The Human Genome Project; impact on health care, Indian J Med
Res117, pp 43-65
• Brown TA, 2009, Genomes, BIOS scientific, edi 2, pp 333-340
• Haung LC, Wu X, Chen JY, 2011, Predicting adverse side effects of drug, BMC Genomics, 12;11, pp 2-10
• Hayden EC, 2014, Is the $1,000 genome for real?, NATURE, pp 1-5
• Scherer S, 2005, The Human Genome Project, BIOETHIQUE, pp 1-10
• Verma M, 2012, Personalized Medicine, The journal of Personalized Medicine, Vol.2, pp 1-14
• Xie HG et al, 2005, Pharmacogenomics steps toward personalized medicine, Future Medicine, Vol.2(4), pp
325-337