1
HUMAN GENOME PROJECT
MBB 508: Proteomics and Genomics (2+0)
Submitted by Mr. Ekatpure Sachin
Dept. of Plant Biotechnology
2
INTRODUCTION
HUMAN GENOME PROJECT
U.S. govt. project coordinated by DOE and NIH
Started in 1990 18 countries participate in the worldwide
effort September 1999 public announcement A rough draft by spring 2000 About 90% of the human genome was in
draft A complete, high-quality DNA sequence - by
2003
3
GOALS Obtain physical map of genome- Allows rough location of genetic
fragments
Develop sequencing technology- Increase throughput and reduce cost
Obtain human DNA sequence- Achieve high accuracy, make freely accessible
Analyze human sequence variation- Identify SNPs, develop theory
Create bioinformatics tools- Develop databases and analysis algorithms
Identify genes and coding regions- Develop efficient in-vitro or in-silico
methods
Sequence other model organisms- Bacteria, yeast, fruit fly, worm, mouse
Ethical, legal and social issues- Develop policies and public awareness
4
TIMELINE OF THE HGP
5
STEPS IN THE HGP
HGP was carried out in three stepsA. The generation of chromosome maps, B. Large scale DNA sequencing and C. Annotating the DNA sequence
6
A. CHROMOSOME MAPS
Types of chromosome maps:1. Physical maps2. Genetic maps
7
1. PHYSICAL MAPPING
It uses a variety of methods assign genes and DNA markers to particular
locations along a chromosome, so the actual distances between the genes
(measured in nucleotide base pairs) are known
8
2. GENETIC MAPPING
The arrangement of genes based on the relationship of their linkage
DNA markers or probes can also be used in the construction of genetic Maps
if they detect sequence changes (polymorphism) among different individuals
9
B. DNA SEQUENCING
1. cDNA Sequencing2. Systematic Mapping and DNA Sequencing of
Human Chromosomes3. Whole Genome Shotgun
10
C. ANNOTATION OF THE GENOME DNA SEQUENCE
Annotation of genome sequence can includes:
Cataloguing the Genes Disease Gene Identification Human Genome Sequence Variation
11
APPLICATIONS OF HUMAN GENOME PROJECT
12
MEDICAL APPLICATIONS
Improved diagnosis of disease Earlier detection of predispositions to disease Rational drug design Gene therapy and control systems for drugs
pharmacogenomics “personal drugs” Organ replacement
13
MICROBIAL GENOME RESEARCH
New energy sources (biofuels) Environmental monitoring to detect
pollutants Protection from biological and chemical
warfare Safe, efficient toxic waste cleanup
14
DNA FORENSICS
Identify potential suspects at crime scenes Exonerate wrongly accused persons Establish paternity and other family relations Identify endangered and protected species as
an aid to wildlife official
15
AGRICULTURE AND LIVESTOCK
Disease, insect and drought-resistant crops Healthier, more productive, disease-resistant
farm animals More nutritious produce Biopesticides Edible vaccines incorporated into food
products
16