Human Genome Project (HGP)
Main objectives Human Genome Project (HGP)
Goals for the HGP
Medical Implications
Applications of HGP
Timeline of HGP
Technical aspects in HGP
Mapping strategies
Sequencing strategies
. Shotgun sequencing method
Sanger sequencing method
Outcomes of HGP
Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional
What is bioinformatics?
About human genome
Human genome project
Aim of human genome project
History
Sequencing Strategy
Benefits of Human Genome Project research
Disadvantages of human genome project
Conclusion
References
HGP was conceived in 1984 & officially begun in earnest in October 1990.
HGP is a large multicentric, international collaborative venture, the main aim of which is to determine the nucleotide sequence of the entire human nuclear genome.
In 1997, United States established the National Human Genome Research Institute (NHGRI).
The HGP was an international research groups from six countries- USA, UK, France, Germany, Japan and China, & several laboratories and a large no. of scientists and technicians from various disciplines.
A crisp and precise presentaion on Human genome project which will help you in your studies.
For original ppt file, contact me at :
Instagram: _s_a_k_s_h_a_m_
Twitter: @_SakshamAgrawal
or mail me at saksham.agrawal512@gmail.com
Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional
What is bioinformatics?
About human genome
Human genome project
Aim of human genome project
History
Sequencing Strategy
Benefits of Human Genome Project research
Disadvantages of human genome project
Conclusion
References
HGP was conceived in 1984 & officially begun in earnest in October 1990.
HGP is a large multicentric, international collaborative venture, the main aim of which is to determine the nucleotide sequence of the entire human nuclear genome.
In 1997, United States established the National Human Genome Research Institute (NHGRI).
The HGP was an international research groups from six countries- USA, UK, France, Germany, Japan and China, & several laboratories and a large no. of scientists and technicians from various disciplines.
A crisp and precise presentaion on Human genome project which will help you in your studies.
For original ppt file, contact me at :
Instagram: _s_a_k_s_h_a_m_
Twitter: @_SakshamAgrawal
or mail me at saksham.agrawal512@gmail.com
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.
this is done by me and my team mates of Wayamba University Sri Lanka for our project.From now we decided to allow download this file.I would be greatful if you could send your comments..
And I'm willing to help you in similar works.I'm in final year of my degree(.BSc Biotechnology)..
pubudu_gokarella@yahoo.com
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.
this is done by me and my team mates of Wayamba University Sri Lanka for our project.From now we decided to allow download this file.I would be greatful if you could send your comments..
And I'm willing to help you in similar works.I'm in final year of my degree(.BSc Biotechnology)..
pubudu_gokarella@yahoo.com
Describe in your own words the benefits, but also the problems of ha.pdfarenamobiles123
Describe in your own words the benefits, but also the problems of having the human genome
deciphered. Write several paragraphs.
Solution
The history of the human race has been filled with curiosity and discovery about our abilities and
limitations. As an egotistical creature with a seemingly unstoppable desire for new
accomplishments, we attempt feats with emotion and tenacity. People worldwide raced to be the
first to discover the secrets and the ability of flight. Enormous amounts of monies were spent on
sending people into space and the race to land on the moon. With the rapid growth of scientific
knowledge and experimental methods, humans have begun to unravel and challenge another
mystery, the discovery of the entire genetic make-up of the human body.
This endeavor, the Human Genome Project (HGP), has created hopes and expectations about
better health care. It has also brought forth serious social issues. To understand the potential
positive and negative issues, we must first understand the history and technical aspects of the
HGP.
History of the Human Genome Project
The HGP has an ultimate goal of identifying and locating the positions of all genes in the human
body. A researcher named Renato Dulbecco first suggested the idea of such a project while the
U.S. Department of Energy (DOE) was also considering the same project because issues related
to radiation and chemical exposure were being raised. Military and civilian populations were
being exposed to radiation and possible carcinogenic chemicals through atomic testing, the use
of Agent Orange in Vietnam, and possible nuclear power facility accidents. Genetic knowledge
was needed to determine the resiliency of the human genome.
Worldwide discussion about a HGP began in 1985. In 1986, the DOE announced its\' Human
Genome Initiative which emphasized the development of resources and technologies for genome
mapping, sequencing, computation, and infrastructure support that would lead to the entire
human genome map. United States involvement began in October 1990 and was coordinated by
the DOE and the National Institute of Health (NIH). With an estimated cost of 3 billion dollars,
sources of funding also include the National Science Foundation (NSF) and the Howard Hughes
Medical Institute (HHMI). Because of the involvement of the NIH, DOE, and NSF who receive
U.S. Congressional funding, the HGP is partly funded through federal tax dollars. Expected to
last 15 years, technological advancements have accelerated the expected date of completion to
the year 2003. This completion date would coincide with the 50th anniversary of Watson and
Crick\'s description of the structure of DNA molecule.
Human Genome Project Goals
The specific goals of the HGP are to::
Technical Aspects of the HGP
Mapping Strategies
To sequence the human genome, maps are needed. Physical maps are a series of overlapping
pieces of DNA isolated in bacteria. Physical maps are used to describe the DNA\'s chemical
characteristics..
Human genome in bioinformatics, relating how the structure of a person came to be from the basic materials in DNA to mRNA to RNA to from translation , transcription of proteins and specialization evolvement
Active transport
Types of Active Transport
Primary Active transport
Sodium-Potassium pump
secondary Active transport
uniport, Symport, Antiport
Endocytosis
Types of endocytosis
Phagocytosis
Pinocytosis
Receptor-mediated endocytosis
Exocytosis
Purposes of Endocytosis and Exocytosis
Passive Transport
Types of Passive Transport
Diffusion
Osmosis
Facilitated Diffusion
What causes diffusion?
Why is diffusion useful?
Supercritical fluid
Osmotic Solutions
Isotonic Solution
Hypertonic Solution
Hypotonic Solution
Types of Osmosis
Difference Between Endosmosis And Exosmosis
Significance of Osmosis
Factors Affecting Facilitated Diffusion
Importance of Facilitated Diffusion
Transmembrane Proteins
Channel Proteins and carrier protein
Environment
Natural Environment
Why we need Environment?
Types of Environment
Components of Environment
Types of Components of Environment
Factors responsible for change in Environment
Effect of insecticides on environment
Effect of fungicides on environment
Effect of herbicides on environment
The Earth Is Getting Warmer
Sea Levels Are Rising
The Ocean Is Acidifying
What is Environmental Management?
Characteristics of Environmental Management
Significance of Environmental Management
General Scheme for Environmental Management
Approaches of environmental management
Elements of EMS
Workflow of EMS
ISO 140001
Components of ISO 140001
Mineral Nutrition
Mineral Nutrition importance
Classification Of Minerals
Essential Elements
Classification of minerals
Role, Properties and Deficiency symptoms of Minerals
Evolution
Types of evolution
Biological Species Concept
Other Species Definitions
Barriers in Evolution
Reproductive Isolation
Reproductive Isolation’s types
Prezygotic Reproductive Isolating Barriers
Ecological isolation
Ecological isolation’s types
Postzygotic Reproductive Isolating Barriers
Speciation
Types of Speciation
How Does Speciation Occur?
Kingdom Monera
Bacteria
structure of Bacteria
shapes of Bacteria
reproduction in bacteria
How do Bacteria cause disease?
How can Bacteria work to our benefit?
CYNOBACTERIA
Example of cynobacteria
Cyanobacteria terminology
Actinomycetes
Streptomyces
Functions/Role of actinomycetes
phloem
translocation
pattern of translocation
Sieve tubes
Sieve tube members
companion cells
Phloem sap
source
sink
source sink relationship
Source-sink pathways follow patterns
Materials transported
Composition of phloem sap in castor bean(Ricinus communis)
The mechanism of phloem transport
The Pressure -Flow Model
THE PRESSURE-FLOW HYPOTHESIS
PROCESS OF TRANSLOCATION OF FOOD
MECHANISM OF TRANSLOCATION OF FOOD THROUGH THE PHLOEM effect by
summary
Basic Terminologies
Population
Sample and Sampling
Advantages & Disadvantages of Sampling
Probability Sampling
Types of Probability sampling
Non-Probability Sampling
Types of Non-probability sampling
Introduction
Class Zygomycetes
General characters of Zygomycetes
Order Mucorales
Order Entomophthorales
Order Zoopagales
Life cycle of zygomycetes in Rhizopus stolonifer
Translocation and Absorption of water
Absorption of water
Functions of water
Active and Passive absorption
Factors affecting absorption of water
Effective root zones
Moisture extraction pattern
Translocation
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3. Table of Content
Human Genome Project (HGP)
Main objectives Human Genome Project (HGP)
Goals for the HGP
Medical Implications
Applications of HGP
4. Human Genome Project (HGP)
HGP was conceived in 1984 & officially begun in
earnest in October 1990
The US side of the Human Genome Project was
initially led by James Watson (one half of Crick and
Watson, who discovered the structure of DNA), and
later by Francis Collins
HGP is a large multicentric, international
collaboration
5. Cont…..
The main aim of which is to determine the
nucleotide sequence of the entire human nuclear
genome
In 1997, United States established the National
Human Genome Research Institute (NHGRI)
The HGP was an international research groups from
six countries- USA, UK, France, Germany, Japan and
China, & several laboratories and a large no. of
scientists and technicians from various disciplines
6.
7.
8. Timeline of HGP
1970 – Fredrick Sanger developed a technique for
DNA sequencing, known as the Sanger’s method of
DNA sequencing
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
1989 - U.K’s medical research council (MRC) joined
the Human Genome Project
9. Cont…..
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
1993 - 1st 5 year plan for HGP was published.
Sanger Institute(UK) joins HGP
1994 – HGP’s Human genetic mapping goal was
achieved
10.
11. Cont…….
1995 - Genetic privacy act was passed. 1st bacterial
genome was sequenced (Hemophilus influenzae)
1996 – 1st Human Gene map was published. Yeast
genome was sequenced. HGP’s mouse genetic
mapping goal was achieved
1997 - NIH becomes NHGRI
• E.coli genome sequenced
• Genoscope, French National Genome Sequencing
Centre was established
12.
13.
14. Cont……
1998 - 2nd 5 year plan for HGP was published.
Japan’s RIKEN Genomic Services Centre was
established. Genome of the roundworm
Caenorhabditis elegans was sequenced. SNP
sequencing was initiated. The Chinese National
Human Genome Centres were established in Beijing
and Shanghai
1999 - sequencing of human chromosome 22 was
completed and was published in “The Nature.”
15.
16. Cont…….
2000 - working draft of human genome completed.
US president Clinton & UK’s PM Blair support free
access to genome information. Genomes of
D.melanogaster and A.thaliana were sequenced &
published in “The Nature”
2001 – working draft of human genome sequence
was published in “The Nature” & “Science”
17.
18. Cont……
2002 – working draft of mouse genome sequence
was completed & published
2003 - finished version of human genome sequence
was completed
HGP ended with all the goals achieved
19.
20.
21. Technical aspects in HGP
The process of determining the human genome first
involves genome mapping, or characterizing the
chromosomes. This is called a genetic map
The next step is DNA sequencing ,or determining
the order of DNA bases on a chromosome. These
are physical maps
22.
23. Mapping strategies
Genetic markers are invaluable for genome
mapping
Markers are any inherited physical or molecular
characteristics that are different among individuals
of a population (polymorphic)
A genetic map shows the relative locations of these
specific markers on the chromosomes
An example of a marker includes restriction
fragment length polymorphisms (RFLP)
24. Cont……
Used in RFLP markers are restriction enzymes
These enzymes recognize short sequences of DNA
and cut them at specific sites, therefore, DNA can be
cut into many different fragments
These fragments are the DNA pieces used in
physical maps
RFLPs reflect sequence differences in DNA sites
which are cleaved by restriction enzymes
25.
26. Sequencing strategies
To sequence DNA, it must be first be amplified, or
increased in quantity
Two types of DNA amplifications are cloning and
Polymerase Chain Reactions (PCR)
Now that the DNA has been amplified, sequencing
can begin
27.
28. Primer
A primer is a short nucleic acid sequence that provides
a starting point for DNA synthesis
In living organisms, primers are short strands of RNA
Polymerases
Polymerases are enzymes that catalyze the synthesis of
DNA
31. Shotgun sequencing method
Shotgun sequencing is a laboratory technique for
determining the DNA sequence of an organism's
genome
The method involves breaking the genome into a
collection of small DNA fragments that
are sequenced individually
32.
33. Sanger sequencing method
Sanger sequencing, also known as the “chain
termination method”, is a method for determining
the nucleotide sequence of DNA
The method was developed by two time Nobel
Laureate Frederick Sanger and his colleagues in
1977, hence the name the Sanger Sequence
34.
35. Outcomes of HGP
There are approximately 22,300 protein-coding
genes in human beings, the same range as in other
mammals
• Mouse – 23,000 genes (approx)
• Drosophila – 17,000 genes (approx)
• C.elegans - < 22,000 genes
36.
37.
38. Cont…..
we share many homologous genes (called
"orthologs") with both these animals. But:-
• Many of our protein-encoding genes produce more
than one protein product (e.g., by alternative
splicing of the primary transcript of the gene)
• On average, each of our ORFs produces 2 to 3
different proteins
So the human "proteome" (our total number of
proteins) may be 10 or more times larger than that
of the fruit fly and roundworm
39. CONT……
A larger proportion of our genome :-
• Encodes transcription factors is dedicated to control
elements to which these transcription factors bind
• The combinatorial use of these elements provides
much greater flexibility of gene expression than is
found in Drosophila and C.elegans
40. Cont……
Gene density :-
• 23 genes per million base pairs on chromosome
19(Chromosome 19 spans more than 58.6 million
base pairs, the building material of DNA)
• 5 genes per million base pairs on chromosome
13(Chromosome 13 spans about 114 million base
pairs, the building material of DNA)
41. Cont……
Humans, and presumably most vertebrates, have
genes not found in invertebrate animals like
Drosophila and C. elegans. Few of those genes are
:-
• Antibodies and T cell receptors for antigen (TCRs)
the transplantation antigens of the Major
Histocompatibility Complex (MHC) & Human
Leucocyte Antigen (HLA)
• Cell-signaling molecules including the many types of
cytokines the molecules that participate in blood
clotting
42. Cont…..
Human genome comprises of 2% of exons (coding
regions) and 98% of introns (non-coding regions)
43. Main objectives Human Genome
Project (HGP)
This collaboration was named as International
Human Genome Sequencing Consortium (IHGSC)
The main objectives set out early in history of the
project include:
1. To obtain complete sequence of pooled DNA
extracted from cells donated by several anonymous
donors, so as to determine the sequence of DNA in
each chromosome
44. Cont……
2. To construct genetic map for studies
3. To discover all human genes to allow further
study of human genetic diseases
4. To develop simplified and automated technology
for DNA sequencing process
45. Cont……
The HGP results attracted worldwide attention
This achievement was hailed with many description
in the media
• The mystery of life unraveled
• The library of life
• The periodic table of life
• The Holy grail of human genetics
46. Cont……
The total no. of genes in the human genome is in
the range of 33,000 to 44,000
Approximately 75% of these genes have the same
DNA sequence in all individuals, except for those
with rare mutations
47. Cont……..
Any two human genomes are approximately 99.9%
identical in sequence
The apparently insignificant difference of 0.1% has a
highly significant effect on personality, behaviour,
intelligence, disease susceptibility and other traits
48. Goals for the HGP
1. Establish the complete human genome sequence
and to make it freely accessible
2. Improve the sequencing technology by
developing new and more effective methods
3. Analyze sequence variations in the human
genome, such as single nucleotide polymorphisms
(SNPs) and other DNA sequence variations
49. Single nucleotide polymorphisms
A single-nucleotide polymorphism (SNP,
pronounced snip) is a DNA sequence variation
occurring when a single nucleotide adenine (A),
thymine (T), cytosine (C), or guanine (G]) in the
genome differs between members of a species
50. Cont…….
4. Develop technology for functional genomics. It
includes
• Development of additional cDNA resources and
technology for detailed analysis of gene expression
• Comprehensive study of functions of non-protein
coding sequences
• Encourage development of technology for global
protein analysis
51. Cont…….
5. Study comparative genomics by completing the
genome sequence of some model organism (e.g.
Mouse etc) which would enhance our
understanding of the human genome
6. Develop bioinformatics and computational
biology, to impart advanced training to young
scientists and encourage establishment of academic
careers in genomic research
52. Cont…….
7. Consider social implications of the vastly
expanding knowledge base
It is anticipated that clash of this new and advanced
knowledge with the pre-existing philosophical
perspectives may result in undesirable
consequences, which have to be taken care of
53. Medical Implications
The medical implications of the huge amount of
genetic information obtained from the HGP are
tremendous
It would serve as resource for identification of the
human disease gene
For example the oncogenic sequence changes in
cancer cells can be directly identified by comparing
cancer genome sequences against draft genome
54. Oncogenic gene
Sequence of deoxyribonucleic acid (DNA) that has
been altered or mutated from its original form
Oncogenes may cause the growth of cancer cells
55. Draft genomes
Draft genomes can have segments of contiguous
base pairs interspersed with gaps for which the
sequence is unknown
When two or more contigs are joined by
overlapping sequences but there is a gap between
them
56. Contig
A contig--from the word "contiguous"--is a series of
overlapping DNA sequences used to make a
physical map that reconstructs the original DNA
sequence
57. Cont…….
Advancement in biotechnology with regard to
development of useful genes would expand the
scope of gene therapy and open new ways of
combating disease
It may even initiate new fields such as
pharmacogenomics which would individualized
therapies depending on genetic make up of the
patient
58. Applications of HGP
1. Identification of human genes and their functions
2. Understanding of polygenic disorders e.g. cancer,
hypertension, diabetes
3. Improvements in gene therapy
4. Improved diagnosis of diseases
5. Development of pharmacogenesis: study of how
people respond differently to drug therapy based upon
their genetic makeup or genes
59. Cont……
6. Genetic basis of psychiatric disorders
7. Understanding of complex social trait
8. Improved knowledge on mutations
9. Better understanding of developmental biology
10. Development of biotechnology