all about hgp by varaprasad

1. VAAGESWARI INSTITUTE OF
PHARMACEUTICAL SCIENCES
KARIMNAGAR
FOR PARTIAL FULLFILMENT OF JNTU ACADEMICS
SEMINAR
THE HUMAN GENOME PROJECT
(HGP)
PRESENTED BY
PADALA VARAPRASAD
HT NO:15EC1R0030
Under The Guidance Of
Mrs. P.MAMATHA
MSc, Mphil
Department of microbiology and biotechnology

2. REASONS
I choose this topic because of 3 reasons
• The human genome project has been an amazing
adventure into ourselves, to understand our own
DNA book
• It is the world’s biggest collaborative biological
project hundreds of scientist worked for more than
20 research centers in 6 countries ( united states,
united kingdom, germany , canada, japan, china )
for 13 years to unlock the secret of life or more
clearly to crack the code of DNA
• The international effort to sequence the 3 billion
DNA letters is considered by many to be one of the
most ambitious scientific undertaking of all time
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3. INTRODUCTION
• GENE is sequence of DNA or RNA that code for a
molecule that has a function
• GENOME is the complete set of chromosomal and extra-
chromosomal genes present in an organism
INTODUCTION TO HUMAN GENOME PROJECT
• The human genome project (HGP) was an international
scientific research project
• The idea was picked up by the US government
• Two major funding agencies , the US Department of
Energy and National Institute of Health with
international partners in a quest to sequence all 3 billion
base pairs
• BINFORMATICS is another branch which
simultaneously developed in order to store and analyze
information of HGP
• the ethical legal and social implications (ELSI) was
established in 1989
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4. Timelines/milestones
• 1985 - Robert Sinsheimer at UCSC proposed the idea of
sequencing the human genome.
• 1986 - the U.S. Dept of Energy and the National Institute of
Health came forward to fund the Human Genome Project.
• 1990 – HGP was officially launched with James Watson as its
Project Director. the 1st gene to be mapped was BRCA1,
which is the gene for breast cancer.
• 1994 – HGP’s Human genetic mapping goal was achieved.
• 2003 - finished version of human genome sequence was
completed. HGP ended with all the goals achieved.
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5. Pioneers of Human Genome Project
• Robert Sinsheimer proposed the idea of
sequencing the human genome in the year 1985.
• Charles DeLisi and David Smith proposed the
budget for Human Genome Project.
• James Watson headed the NIH Genome
Program.
• Francis Collins succeeded James Watson in
1993 as the overall Project Head and the
Director of the NIH .
• Jim Kent, developed a software,
GigAsseblemr, that allowed the publicly
funded Human Genome Project to assemble and
publish the human genome sequence 5

6. Goals Of Human Genome Project
• To identify the all genes in human DNA
• To develop a genome linkage map and physical map of human
genome
• To know the functions of genes
• To determine the sequence of 3 billion base pairs that make up
human DNA
• Store this information in public database
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7. Strategies/technical aspects of HGP
GENE MAPING :
• the graphical representation of arrangement of genes or DNA
sequences in a chromosome
It is two types
Physical mapping
• A physical map is an ordered set of DNA fragments expressed
in physical units (basepairs)
• Physical mapping uses molecular biology techniques to
examine DNA molecules directly in order to construct maps
showing the positions of genes.
Genetic Maps
• A genetic map is based on the frequencies of recombination
between adjacent genes during crossover of homologous
chromosomes
Genetic markers are invaluable for genome mapping
• A genetic marker is a gene or DNA sequence with a known
location on a chromosome that can be used to identify
individuals or species.
• An example of a marker includes restriction fragment length
polymorphisms (RFLP).
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8. DNA Sequencing
• Sequencing means determining the exact order of the base
pairs.
• method used by the HGP to produce the finished version of the
human genetic code is map based or BAC based sequencing
DNA Sequencing methods
1. Maxam-Gilbert chemical cleavage method
2. Sanger chain-termination method
3. shotgun method
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9. SANGER’S METHOD
• Developed by Frederick Sanger and colleagues in 1977
• He used a third form of ribose in which the hydroxyl group is
missing from both the 2’ and the 3’ carbons that is
dideoxyribose
• whenever a dideoxynucleotide was incorporated into a
polynucleotide, the chain would irreversibly stop, or
terminate that’s why it is also called as chain termination
method
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10. • ddNTPs lack the 3’ OH group to which the next dNTP of the
growing DNA chain is added. Without the 3’ OH, no more
nucleotides can be added, and DNA polymerase falls off. The
resulting newly synthesized DNA chains will be a mixture of
lengths, depending on how long the chain was when a ddNTP was
randomly incorporated.
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11. Shotgun Sequencing
• Shotgun sequencing, also known as shotgun
cloning, is a method used
for sequencing long DNA strands or the whole
genome.
• In shotgun sequencing, DNA is broken up randomly
into numerous small
• segments and overlapping regions are identified
between all the individual
sequences that are generated.
• Multiple overlapping reads for the target DNA are
obtained by performing several rounds of this
fragmentation and sequencing.
• Computer programs then use the overlapping ends of
different reads to
assemble them into a continuous sequence.
• The shotgun approach was first used successfully
with the bacterium Haemophilus influenzae.
• Craig Venter used this method to map the Human
genome project in 2001. 11

12. Genome Annotation
• The process of identifying the locations of genes and the coding regions in a
genome to determine what those genes do
• Finding and attaching the structural elements and its related function to each
genome locations
Structural annotation: gene structure prediction
Identifying elements(Introns/exons,CDS,stop,start) in the genome
Functional annotation: gene function prediction Attaching biological information to
these elements
eg: for which protein exon will code for
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13. • A vector is a DNA molecule that has the
ability to replicate in an appropriate host
cell, and into which the DNA insert is
integrated for cloning
• Two of the most popular vector:
1.Yeast artificial chromosomes (YACs): are
genetically engineered chromosomes
derived from the DNA of the yeast,
Saccharomyces cerevisiae,
2.Bacterial artificial chromosomes
(BACs): A bacterial artificial
chromosome (BAC) is an engineered
DNA molecule, used to clone DNA
segment in bacterial cells (E. coli).
Vectors For Human Genome Project
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14. Salient Feature Of HGP (Outcomes)
• Human genome contains 3164.7m (3.1b) base pairs
• Average gene contents of 3000 bases
• largest human gene- dystrophin (2.4m bases)
• Total number of genes 30,000
• Repeated sequences make large portions
• Less than 2% genome codes for proteins
• 1.4 million locations have SNP’s
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15. Applications
• Helps in identifying disease causing gene.
• design “custom drugs” (pharmacogenomics) based on
individual genetic profiles.
• Improve gene theraphies
• Benefitted the advancement of forensic science
Disadvantages:
• 15 years
• $3billions
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16. Conclusion
• The human genome has been a long process worked on by
many research scientist at many different locations.
• The project ended costing about $2.7billion
• Now that all 30,000 or so genes that make up the human
genome have been deciphered, pharmaceutical industries
are emerging to capitalize the custom based drug treatment.
• Understanding human genetic variation promises to have a
great impact on our ability to uncover the cause of
individual variation in response to therapeutics.
• The study of association between genetics and drug response is called
pharmacogenomics.
•The potential implication of genomics and pharmacogenomics in clinical
research and clinical medicine is that disease could be treated according to the
interindividual differences in drug disposition and effects, thereby enhancing the
drug discovery and providing a stronger scientific basis of each patient's genetic
constitution
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17. References
• Ananthanarayan and Paniker (2009)Text book of
microbiology,8th edition,page no:63,68,483,487
• Dr R Vasanthakumari (2013)Textbook Of Microbiology,2nd
Edition,page no:242
• Roger Y. Stanier, John L Ingraham, Mark L Wheelis, Rage R
Painter(1992)General Microbiology,5th edition,page no:321-
323
• https://www.genome.gov/12011238/an-overview-of-the-
human-genome-project/
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18. THANK YOU
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