Human Genome

Project and DNA

Fingerprinting
Molecular Basis of
Inheritance

History of HGP:
The $3-billion project was formally founded in 1990 by
the US Department of Energy, the National Institutes of
Health and National Human Genome Research Institute,
and was expected to take 15 years.
In addition to the United States, the international
consortium comprised geneticists in the United
Kingdom, France, Australia, China and myriad other
spontaneous relationships.
Due to advancement in science the project was
declared completed by 2003

 Along with US other countries like great Britan, France

and japan initiated the coordination of Human Genome
Organization (HUGO).
The Humans were expected to possess 100,000 genes
since there were at least 100,000 proteins coded by
humans (according to one gene one protein hypothesis).
The first completely sequenced genome was the human
circular genome of human mitochondrion with 16,159
bp in 1981.

Genomics
Genomics is a discipline in genetics that applies
recombinant DNA, DNA sequencing methods, and
bioinformatics to sequence, assemble, and analyze the
function and structure of genomes (the complete set of
DNA within a single cell of an organism).

Subfields of Genomics:
Structural genomics: it seeks to describe the 3dimensional structure of every protein encoded by a
given genome. This genome-based approach allows for
a high-throughput method of structure determination by
a combination of experimental and modeling
approaches.

 Functional Genomics: it is a field of molecular biology

that attempts to make use of the vast wealth of data
produced by genomic projects (such as genome
sequencing projects) to describe gene (and protein)
functions and interactions.

 Comparative genomics is
a field of biological
research in which the
genomic features of
different organisms are
compared. The genomic
features may include the
DNA sequence, genes,
gene order, regulatory
sequences, and other
genomic structural
landmarks.

Goals of HGP
Identification of all protein coding genes.
Determining the 3 billion bp DNA
sequence of Human DNA
Storing and obtaining the information in
data bases
Development of tools for data analysis
Transfer of related technology to the
private sector
Addressing the ethical, legal and social
issues that may arise from the project.

Comparative analysis of HGP:

Escherichia coli:- 4.64 Mb
Saccharomyces cerevisiae:- 12.07 Mb (16 chromosomes)
Caenorhabditis elegans:- 100.3 Mb
Drosophila melanogaster:- 118.4 Mb
Mus musculus:- 99% of genome is direct counterpart to that of humans
and possess 277 Mb genome in 19A and XY chromosomes.
Arabidopsis thaliana: 120Mb which possess nearly 100 genes similar to
disease causing genes of humans.
The International Consortium of Human Genome Project announced the
successful completion on April 14 2003. It covers 99% of genes with
99.9% of accuracy and contains 308.5 Mb of nucleotide information.

ge Scale Automated Genome Sequencing Lab

Beyond Human Genome Project

Methodologies:
Expression sequence tags or Serial analysis of gene
expression

 Shotgun Sequencing Method

 Sangers
dideoxynucleoti
de phosphate
method:

 Bacterial Artificial
Chromosome:

 Yeast Artificial
Chromosome

Advantages of HGP:
Serves to explore our Genome
Better medication and diagnosis
Helps us answer many questions related to
* Genome organization
* Control of Gene expression
* Cellular Growth and Differentiation
* Evolutionary Biology and so on
Microbial genome research helps in fuel and
environment clean up.

Salient Features of HGP:

The intergenic regions contain gene related sequences and extragenic DNA.
70% of the genome is extragenic. (20% - moderately or highly repetitive;
80% is unique or single copy sequences). Repetitive DNA includes clustered
or dispersed repeats.
DNA is coding, structural and regulatory in function.
Human genome contain 3billion bp (longest is dystrophin gene with 2.4
million bp DNA, average gene size is 300bp, only 2% of total genome codes
for fictional genes and about 50% of genes functions are not known).
The chromosome 1 alone has 2968 gene.
Y-chromosome has only 231 genes
1.4 million locations possess SNPs

Applications and future challenges:

DNA Fingreprinting