HUMAN GENOME DETAILS IN THIS PROJECT

1. THE HUMAN
GENOME PROJECT
PREPARED BY-
PALLABI SARKAR
(1ST
YEAR ZOOLOGY HONS.)

2. CONTENTS
 The Human Genome
 Salient Features of Human Genome
 What was Human Genome Project
 Milestones
 Goals of Human Genome Project
 Issues Of Concerns
 Pros and cons of the Project
 Future Challenges
 References

3. 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
The Human Genome

4.  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.
 Human genome is estimated to have about 30,000 genes .
 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.
 Chromosome 1 has most genes (2968) and Y chromosome has the
lowest (231).
Salient Features of Human
Genome

5. 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
What was Human Genome
Project

6. Milestones
1990: Project initiated as joint effort of U.S.
Department of Energy and the National Institutes of
Health
June 2000: Completion of a working draft of the
entire human genome (covers >90% of the genome to a
depth of 3-4x redundant sequence)
February 2001: Analyses of the working draft are
published
April 2003: HGP sequencing is completed and
Project is declared finished two years ahead of schedule

7. Goals of Human Genome
Project
 To identify all the genes in human DNA.
 To develop a genetic linkage map of
human genome.
 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.

8. Issues Of Concern
Ethical, Legal and Social issues of the Human Genome Project
 Fairness in the use of genetic information.
 Privacy and confidentiality of genetic
information.
 Reproductive issues.
 Clinical issues.
 Fairness in access to advanced genomic
technologies.
 Health and environmental issues.
 Commercialization of products.
 Education, Standards, and Quality control.
 Patent issues.

9. Pros and cons of the Project
Pros: Cons:
1)Successfully identifies where 1)Research costs a lot of
the genes of DNA are located money.
in the body 2)Lots of time taken 15
2)Genetically modify foods year.
3)Make crops grow faster and 3)Requires skill
more resistant to pesticides 4)Process is very difficult
4)Mapping can locate cancer with lots of procedure.
cells and mental illnesses 5)Afraid of discrimination
5)Can identify if the fetus has of genes.
genetic mutations in the
womb

10. Future Challenges
 Gene number, exact locations, and
functions
 Chromosomal structure and organization
 Non-coding DNA types, amount,
distribution, information content, and
functions
 Evolutionary conservation among
organisms
 Disease-susceptibility prediction based on
gene sequence variation
 Genes involved in complex traits and
multigene diseases
 Developmental genetics, genomics

11. Books:-
Gupta, P.K. Genetics. Rastogi Publications, Meerut.
Singh, B.D. Fundamentals of Genetics. Kalyani Publishers,
Ludhiana.
I-Genetics, Peter Russell
Internet:-
"An Overview of the Human Genome Project.“
<http://www.genome.gov/12011238>.
"To Know Ourselves: Introducing the Human Genome.“
<http://www.ornl.gov/sci/techresources/Human_Genome/publicat/tk
o/03_introducing.html>.
References