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Human Genome Project

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1. Introduction

The human genome is made up of approximately three billion base pairs of deoxyribonucleic acid (DNA). The bases of DNA are adenine (A), thymine (T), guanine (G), and cytosine (C).

The human genome is made up of approximately three billion base pairs of deoxyribonucleic acid (DNA). The bases of DNA are adenine (A), thymine (T), guanine (G), and cytosine (C).

Human Genome Project is an international collaboration that successfully determined, stored, and rendered publicly available the sequences of almost all the genetic content of the chromosomes of the human organism, also known as the human genome.

The Human Genome Project (HGP), which operated from 1990 to 2003, provided researchers with basic information about the sequences of the three billion chemical base pairs (i.e., adenine [A], thymine [T], guanine [G], and cytosine [C]) that make up human genomic DNA (deoxyribonucleic acid). The Human Genome Project was further intended to improve the technologies needed to interpret and analyze genomic sequences, to identify all the approximately 25,000 genes encoded in human DNA, and to address the ethical, legal, and social implications that might arise from defining the entire human genomic sequence.

The human genome is made up of approximately three billion base pairs of deoxyribonucleic acid (DNA). The bases of DNA are adenine (A), thymine (T), guanine (G), and cytosine (C).

2. History

The Human Genome Project (HGP) refers to the international 13-year effort, formally begun in October 1990 and completed in 2003, to discover all the estimated 20,000-25,000 human genes and make them accessible for further biological study. Another project goal was to determine the complete sequence of the 3 billion DNA subunits (bases in the human genome). As part of the HGP, parallel studies were carried out on selected model organisms such as the bacterium E. coli and the mouse to help develop the technology and interpret human gene function.

Previous to the Human Genome Project, the base sequences of numerous human genes had been determined through contributions made by many individual scientists.

However, the most of the human genome remained unexplored, and researchers, having recognized the necessity and value of having at hand the basic information of the human genomic sequence, were beginning to search for ways to uncover this information more quickly. Because the Human Genome Project required billions of dollars that would inevitably be taken away from traditional biomedical research, many scientists, politicians, and ethicists became involved in strong debates over the merits, risks, and relative costs of sequencing the entire human genome in one concerted undertaking.

Human Genome Project goals

The completion of the human DNA sequence in the spring of 2003 coincided with the 50th anniversary of Watson and Crick’s, the two scientists who discovered the structure of DNA in 1953. The analytical power arising from the reference DNA sequences of every genomes and other genomics resources has started what some call the “biology century“.

The Human Genome Project was marked by accelerated progress. In June 2000, the draft of the human genome was completed a year ahead of schedule. In February 2001, the working draft was completed, and special issues of Science and Nature containing the working draft sequence and analysis were published. Additional papers were published in April 2003 when the project was completed.
The project’s first 5-year plan, intended to guide research in five years (1990-1995), was revised in 1993 due to unexpected progress, and the second plan outlined goals through 1998. Some 18 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.

DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules. DNA sequence information is important to scientists investigating the functions of genes. The technology of DNA sequencing was made faster and less expensive as a part of the Human Genome Project.

DNA sequencing is a laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules. DNA sequence information is important to scientists investigating the functions of genes. The technology of DNA sequencing was made faster and less expensive as a part of the Human Genome Project.

The initial purpose or goals were to:

  • 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.
  • Address the ethical, legal, and social issues (ELSI) that may arise from the project.

Human Genome Project Goals and Completion Dates

Area Human Genome Project Goal Standard Achieved Date Achieved
Genetic Map 2- to 5-cM resolution map (600 – 1,500 markers)

*cM: centimorgan, map unit.

1-cM resolution map (3,000 markers)

*cM: centimorgan, map unit

September 1994
Physical Map 30,000 STSs

*Sequence-tagged site, short part of genomic DNA.

52,000 STSs

*Sequence-tagged site, short part of genomic DNA.

October 1998
DNA Sequence 95% of gene-containing part of human sequence finished to 99.99% accuracy 99% of gene-containing part of human sequence finished to 99.99% accuracy April 2003
Capacity and Cost of Finished Sequence Sequence 500 Mb/year at < $0.25 per finished base

*Mb: megabase

Sequence >1,400

Mb/year at <$0.09 per finished base*Mb: megabase

November 2002
Human Sequence Variation 100,000 mapped human SNPs

*SNP: single nucleotide polymorphism, DNA sequence variations that happen when a single nucleotide (A, T, C, or G) in the genome sequence is altered.

3.7 million mapped human SNPs

*SNP: single nucleotide polymorphism, DNA sequence variations that happen when a single nucleotide (A, T, C, or G) in the genome sequence is altered.

February 2003
Gene Identification Full-length human cDNAs 15,000 full-length human cDNAs March 2003
Model Organisms Complete genome sequences of

E. coliS. cerevisiae,C. elegansD. melanogaster

Finished genome sequences ofE. coliS. cerevisiae,C. elegansD. melanogaster, plus whole-genome drafts of several others, including C. briggsaeD. pseudoobscura, mouse and rat April 2003
Functional Analysis Develop genomic-scale technologies High-throughput oligonucleotide synthesis 1994
DNA microarrays 1996
Eukaryotic, whole-genome knockouts (yeast) 1999
Scale-up of two-hybrid system for protein-protein interaction 2002

Timeline of the Human Genome Project

The Human Genome Project Timeline contains major milestones in genomics from 1865 to 2003.

The Human Genome Project Timeline contains major milestones in genomics from 1865 to 2003.

3. Benefits

laboratory-human-genome-projectRapid progress in genome science and a glimpse into its potential applications have spurred observers to predict that biology will be the foremost science of the 21st century. Technology and resources generated by the Human Genome Project and other genomics research are already having a major impact on research across the life sciences.

Some current applications of the genome research are:

Molecular medicine.

In this section, the following things are improved:

  • Improved diagnostic of disease.
  • Earlier detection of genetic predispositions to disease.
  • Rational drug design.
  • Gene therapy and control systems for drugs.
  • Pharmacogenomics “custom drugs”.

In the future, the molecular medicine is characterized less by treating symptoms and more by looking to the most fundamental causes of disease and more fast and specific diagnostic too.

Energy sources and environmental applications.

These are achieved by:

  • Using microbial genomics research to create new energy sources (biofuels).
  • Using microbial genomics research to develop environmental monitoring techniques to detect pollutants.
  • Using microbial genomics research for safe, efficient environmental remediation.
  • Using microbial genomics research for carbon sequestration.

Understanding microbial genomics will provide us insights into the strategies and limits of life on this planet.

Risk assessment.

human-genome-project-riskThese are:

  • Evaluate health damage and risks caused by radiation exposure, including low-dose exposures.
  • Evaluate health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins.
  • Reduce the likelihood of heritable mutations.

Understanding the human genome will have an enormous impact on the ability to assess risks posed to individuals by exposure to toxic agents.

Bioarchaeology, anthropology, evolution, and human migration.

They are based in:

  • Study evolution through germline mutations in lineages.
  • Study migration of different population groups based on female genetic inheritance.
  • Study mutations on the Y chromosome to trace lineage and migration of males.
  • Compare breakpoints in the evolution of mutations with ages of populations and historical events.

This will help us understand human evolution and the common biology we share with all of life.

DNA forensic identification.

This will help us to:

  • Identify potential suspects whose DNA may match evidence left at crime scenes.
  • Exonerate persons wrongly accused of crimes.
  • Identify crime and catastrophe victims.
  • Establish paternity and other family relationships.
  • Identify endangered and protected species as an aid to wildlife officials (could be used for prosecuting poachers).
  • Detect bacteria and other organisms that may pollute air, water, soil, and food.
  • Match organ donors with recipients in transplant programs.
  • Determine pedigree for seed or livestock breeds.
  • Authenticate consumables such as caviar and wine.

Every living form has unique DNA sequences. That is why it`s used for the criminology.

Agriculture, livestock breeding, and bioprocessing.

These improvements are:

  • Disease-, insect-, and drought-resistant crops.
  • Healthier, more productive, disease-resistant farm animals.
  • More nutritious produce.
  • Biopesticides.
  • Edible vaccines incorporated into food products.
  • New environmental cleanup uses for plants like tobacco.

Understanding plant and animal genomes will allow us to create stronger, more disease-resistant plants and animals.

4. Ethical, Legal, and Social Issues

Societal Concerns Arising from the New Genetics.

Fairness in the use of genetic information by insurers, employers, courts, schools, adoption agencies, and the military, among others.

  • Who should have access to personal genetic information, and how will it be used?

Privacy and confidentiality of genetic information.

  • Who owns and controls genetic information?

Psychological impact and stigmatization due to an individual’s genetic differences.

  • How does personal genetic information affect an individual and society’s perceptions of that individual?
  • How does genomic information affect members of minority communities?

ethical-social-legal-issues-human-genome-projectReproductive issues including appropriate informed consent for complex and potentially controversial procedures, use of genetic information in reproductive decision making, and reproductive rights.

  • Does healthcare staff properly advise parents about the risks and limitations of genetic technology?
  • How safe and useful is fetal genetic testing?
  • What are the larger societal issues raised by new reproductive technologies?

Clinical issues including the education of doctors and other health service providers, patients, and the general public in genetic capabilities, scientific limitations, and social risks; and implementation of standards and quality-control measures in testing procedures.

  • How will genetic tests be evaluated and regulated for accuracy, reliability, and utility? (Currently, there is little regulation at the federal level.)
  • How do we prepare healthcare professionals for the new genetics?
  • How do we prepare the public to make informed choices?
  • How do we as a society balance current scientific limitations and social risk with long-term benefits?

Uncertainties associated with gene tests for susceptibilities and complex conditions (e.g., heart disease) linked to multiple genes and gene-environment interactions.

  • Should testing be performed when no treatment is available?
  • Should parents have the right to have their minor children tested for adult-onset diseases?
  • Are genetic tests reliable and interpretable by the medical community?

Conceptual and philosophical implications regarding human responsibility, free will vs genetic determinism, and concepts of health and disease.

  • Do people’s genes make them behave in a particular way?
  • Can people always control their behavior?
  • What is considered acceptable diversity?
  • Where is the line between medical treatment and enhancement?

Health and environmental issues concerning genetically modified foods (GM) and microbes.

  • Are GM foods and other products safe to humans and the environment?
  • How will these technologies affect developing nations’ dependence on the West?

Commercialization of products including property rights (patents, copyrights, and trade secrets) and accessibility of data and materials.

  • Who owns genes and other pieces of DNA?
  • Will patenting DNA sequences limit their accessibility and development into useful products?

5. Explicative videos

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