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.
Porella : features, morphology, anatomy, reproduction etc.
PAPER 3.1 ~ HUMAN GENOME PROJECT
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.
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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>.
Editor's Notes
We are just talking it all about the nuclear DNA, 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
Not all genetic information is found nucleardna
Each mitochondrion has its own set
AT THAT TIME THIS NEW BIOINFORMATICS BRANCH CAME INTO EXISTANCE WHERE THERE WHERE ABLE TO STORE THE DATA AND PROCESS USING COMPUTER DEVICE WHERE WE CAN USE DIFFERENT KIND OF SOFTWARE AND BROWSERS BY USING THIS BROWSERS A LOT OF GENETIC INFO WAS CODED & STORED FROM WHICH THE SCIENTISTS CAN RETRIVEE AND WHEN EVER WE WERE IN NEED OF IT WHERE WE CAN ANALYSIE TH INFO AND PROCESS IT WITH ACCURATE ACCURACY
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.
To identify all the genes in human DNA.
To develop a genetic linkage map of human genome.
To obtain a physical map of human genome.
To develop technology for the management of human genome information.
To know the function of genes.
Determine the sequences of the 3 billion chemical base pairs that make up human DNA.
Store this information in public databases.
Develop tools for data analysis.
Transfer related technologies to the private sectors.
IT WAS CARRIED BCOZ TO KNOW WHERE THE PARTICULAR MUTATION OCCURACE AND WHY IT OCCURE IN THAT PARTICULAR PLACE