Human Genome project and its role in emerging scinece

1. Human
Genome
Presented by
Peyman Ghoraishizadeh
Department of Obstetric
&Gynecology
University Of Putra Malaysia

2. What is a Genome and Gene?
 A genome is an organism’s
complete set of DNA, including all
of its genes
 Each genome contains all of the
information needed to build and
maintain that organism
 A gene produce a protein

3. The Physical Structure of the Human
Genome
 Nuclear DNA
 The nucleus contains long strands of
DNA that encode genetic information
 double helix
 DNA contains base, sugar and phosphate
group
 Two strand are connected to each other
by chemical pairing of each base
 suitable molecule for carrying our genetic
information

4.  Organelle DNA
 Not all genetic information is found
in nuclear DNA
 Each mitochondrion has its own set
of genes
 Cells often have multiple
mitochondria
 Responsible for energy conversion
 The energy-conversion process that
takes place in the mitochondria
takes place aerobically
 There are many diseases caused by
mutations in mitochondrial DNA
(mtDNA) like deafness

5.  Ribonucleic Acids
 ribonucleic acid (RNA) is a chain, or
polymer, of nucleotides with the same
5' to 3' direction of its strands
 RNA has a 2' oxygen atom that is not
present in DNA
 uracil takes the place of the thymine
nucleotide found in DNA

6.  Structural Genes
 Sequences that code for proteins
 Regulatory Sequences
 makes up a numerically insignificant fraction
of the genome but provides critical functions
 certain sequences indicate the beginning and
end of genes, sites for initiating replication
and recombination

regulatory sequences are inherited
 Junk DNA
 sequences are components of an organism's
DNA that do not encode protein sequences
 over 98% of the human genome is
noncoding DNA ,[1]

7.  Other DNA Regions
 Forty to forty-five percent of our
genome is made up of short sequences
that are repeated, sometimes hundreds of
times
 There are numerous forms of "repetitive
DNA“
 They have some functions such as
stabilizing the chromosome structure or
inactivating one of the two X
chromosomes in developing females, a
process called X-inactivation
 The most highly repeated sequences
found so far in mammals are
called "satellite DNA"
 These sequences are associated with
chromosome structure and are found at
the centromeres (or centers)
and telomeres (ends) of chromosomes
 they do not play a role in the
coding of proteins, they do play a
significant role in chromosome
structure, duplication, and cell
division

8.  Haplotype
 is a combination of alleles (DNA sequences) at
adjacent locations (loci) on a chromosome
that are transmitted together
 A haplotype may be one locus, several loci, or
an entire chromosome depending on the
number of recombination events that have
occurred between a given set of loci
 A second meaning of the term haplotype is a
set of single-nucleotide polymorphisms
(SNPs) on a single chromosome of a
chromosome pair that are
associated statistically
 It is thought that these associations, and the
identification of a few alleles of a haplotype
sequence, can unambiguously identify all other
polymorphic sites in its region. Such
information is very valuable for investigating
the genetics of common diseases, and has been
investigated for the human species by the
International HapMap Project .

9. What was Human Genome Project
 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

10.  The Human Genome Project
formally began in 1990 and was
completed in 2003,2 years ahead of
its original schedule
 The work of the Human Genome
Project has allowed researchers to
begin to understand the blueprint for
building a person
 researchers learn more about the
functions of genes and proteins
 this knowledge will have a major
impact in the fields of medicine,
biotechnology, and the life sciences

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

12. What is DNA sequencing
 Sequencing means determining
the exact order of the base pairs
in a segment of DNA
 method used by the HGP to
produce the finished version of
the human genetic code is map-
based, or BAC-based, sequencing
 More recently scientists
estimated that there are less than
30,000 human genes. However,
we still have to make guesses at
the actual number of genes,
because not all of the human
genome sequence is annotated

13. Omic Projects
 International HapMap
Project
that aims to develop
a haplotype map (HapMap) of
the human genome, which will
describe the common patterns of
human genetic variation
HapMap is a key resource for
researchers to find genetic variants
affecting health, disease and
responses to drugs and
environmental factors

14. Encode DNA
 Encyclopedia of DNA Elements (ENCODE )
 The goal is to find all functional elements in the human genome
 On 5 September 2012, initial results of the project were released
 These publications combine to show that approximately 20%
of noncoding DNA in the human genome is functional while an
additional 60% is transcribed with no known function.
 These results demonstrate that gene regulation is far more complex
than previously believed.

15. Human Genome Project
 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.  TOMORROW
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. Thank
you