Human Genome Project

Human genome Project
The Human Genome Project or HGP is an international 13-year long effort which formally
began in October 1990 to sequence the human genome. The project was coordinated by the U.S.
Department of Energy (DOE) and the National Institutes of Health (NIH). The project was
initially planned to last for 15 years, but because of rapid technological advances the project was
completed in 2003. . The first working draft was completed in June 2000 but high quality
“finished sequence” of the human genome was completed in 2003. The final report of the HGP
was published in 2006.
Eighteen countries have participated in the worldwide effort, with significant contributions from
the Sanger Center in the United Kingdom and research centers in Germany, France, and Japan.
The Human Genome Organization or HUGO has helped to coordinate this international project.
The Department of Energy’s Human Genome Program and the National Human Genome
Research Institute (NHGRI) together sponsored the U.S. Human Genome Project.
Goals of Human Genome Project:

The goals of the human genome project were to accomplish the following things:
a. To identify all the genes in the human DNA.
b. To determine the sequence of approximately three billion base pairs (3 x 10 9) that make up the
human DNA.
c. To store the information in databases.
d. To improve tools of data analysis.
e. To use the data and transfer related technologies to the biotechnology industry and to develop
new medical applications.
f. To address the ethical, legal and social issues, i.e. ELSI that may arise from the project.
g. Along with the HGP, the DNA of a few model organisms was also sequenced such as E.coli to
interpret human gene function.
Methods:
Expressed Sequence Tags
Whole Genome shotgun strategy
Results/ Highlights of Human Genome:

 The draft represents about 90% of the entire human genome. lt is believed that most of
the important parts have been identified.
 The remaining 10% of the genome sequences are at the very ends of chromosomes (i.e.
telomeres) and around the centromeres.
 Human genome is composed of 3200 Mb (or3.2Gb) i.e. 3.2 billion basepairs
(3,200,000,000).
 Approximately 1.1 to 1.5% of the genome codes for proteins.
 Approximately 24% of the total genome is composed of introns that split the coding
regions (exons), and appear as repeating sequences with no specific functions.
 The number of protein coding genes is in the range of 30,000-40,000.
 An average gene consists of 3000 bases, the sizes however vary greatly. Dystrophin gene
is the largest known human gene with 2.4 million bases.
 Chromosome 1(the larget human chromosome) contains the highest number 0f genes
(2968), while the Y chromosome has the lowest. Chromosomes also differ in their GC
content and number of transposable elements
 Genes and DNA sequences associated with many diseases such as breast cancer, muscle
diseases, deafness and blindness have been identified,
 About100coding regions appear to have been copied and moved by RNA-based
transposition (retrotransposons).
 Repeated sequences constitute about 50% of the human genome.
 A vast majority of the genome (- 97%) has no known functions.
 Between the humans, the DNA differs only by 0.2% or one in 500bases.
 More than 3 million single nucleotide polymorphisms (SNPs) have been identified.
 Human DNA is about 98% identical to that of chimpanzees.
 About 200 genes are close to that found in bacteria
Applications:
ldentification of human genes and their functions: Analysis of genomes has helped to identify
the genes, and functions of some of the genes. The functions of other genes and the interaction
between the gene products needs to be further elucidated.
Predict and prevent diseases: By knowing which genes predispose people to particular
conditions, doctors will be able to predict which people are likely to suffer from a particular
disease and offer a preventive course of action, which may involve medical treatment or lifestyle
changes. Furthermore, cures could be found for genetic diseases like cystic fibrosis or sickle cell
anaemia.
Improved medicine: Personalised medicines can be developed based on the way our individual
bodies react to the disease and the treatments, which will be more effective because the
medicines will be tailored for our specific medical needs.
Accurate diagnoses: Doctors can develop more accurate diagnostic techniques for certain
conditions which are difficult to diagnose at an early stage.
Improve forensic science: Genetic fingerprinting helps to match a suspect to the biological
material found at a crime scene. In the future it could be possible to figure out what a suspect
looks like from DNA found at a crime scene e.g. their eye, hair and skin colour.
lmprovements in gene therapy: At present, human gene therapy is in its infancy for various
reasons. Genome sequence knowledge will certainly help for more effective treatment of genetic
diseases by gene therapy.
Knowledge on mutations: Many events leading to the mutations can be uncovered with the
knowledge of genome.
Better understanding of developmental biology: By determining the biology of human
genome and its regulatory control, it will be possible to understand how humans develop from a
fertilized eggs to adults.
Comparative genomics: Genomes from many organisms have been sequenced and the number
will increase in the coming years. The information on the genomes of different species will
throw light on the major stages in evolution.

Human Genome Project

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Human Genome Project

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Human genome Project

Goals of Human Genome Project:

Results/ Highlights of Human Genome:

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