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Example research essay topic: History Of The Human Genome Project - 1,354 words

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The Human Genome Project (HGP) is an international research effort to decipher the entire human genome and understand the unique hereditary instructions that each person possesses. The HGP is a jointly funded project by the U. S. Department of Energy (DOE) and the National Institutes of Health (NIH) with additional research done by the National (NHGRI).

The project, launched in 1990, was originally planned to last 15 years, but rapid advances in technology have accelerated the expected completion date to 2003. The Joint Genome Institute (JGI), established in 1997, is one of the largest publicly funded human genome sequencing centers in the world and contributes greatly to the HGP. The Wellcome Trust in the United Kingdom also contributes substantial investments to the HGP. The roots of the HGP can be traced back to the atomic bomb era that began during World War II. Descendants of bomb survivors harbor DNA mutations as a result of severe radiation exposure.

These mutations were passed to their descendents who developed horrible diseases and malformations. The DOEs role in the HGP arose to study the genetic and health effects or potential health risks of radiation and chemical by-products of energy production. Scientists realize the best way to study and treat these effects were to directly study DNA, so blood samples were collected and stored for future DNA analysis. At a joint DOE and International Commission on Protection against Environmental Mutagens and Carcinogens (ICPAEMC) in 1984, the question was asked, Can we, and should we, sequence the human genome? After lengthy debates, scientists eventually decided to do it.

In 1986, the DOE announced its Human Genome Initiative to decipher the human genetic script. The HGP will transform both biology and medicine. The goals of the HGP are to identify the approximate 80 to 100, 000 genes in human DNA and determine the sequences of the approximately 3. 2 -billion chemical bases that make up human DNA. This information will be stored in computer databases while data analysis tools will be developed to apply this information to human biology and medicine. Results of the HGP are hoped to transform the treatment of symptoms in molecular medicine to address the deepest causes of disease at their molecular foundations in their earliest stages. Gene therapy will soon be fixing genetic errors before they result in disease.

Finally, the HGP will address the ethical, legal, and social issues (ELSI) that may arise from the project. The United States HGP is the first large scientific undertaking to address these types of issues. The original goals for the $ 3 billion project were set in 3 five-year plans. The goals are centered around the following aspects: Mapping and Sequencing the Human Genome, Mapping and Sequencing the DNA of Model Organisms, Data Collection and Distribution, Ethical, Legal, and Social Considerations, Research Training, Technology Development, and Technology Transfer.

Because of the rapid progress, the plans were updated in 1993 and again in 1998. The first complete working draft was completed in June 2000, and the final sequence is expected to be available by 2003. DNA Structure and Biology Genetic information is the complete set of inherited instructions, or an organisms genome, for building proteins and other molecules. Inside the nucleus of each mammalian cell are pairs of chromosomes that are composed of deoxyribonucleic acid (DNA). This long, helical molecule carries all the information to direct the production of proteins. Biologists were convinced that chromosomes carry genes and genetic information, but they wanted to find out whether it is DNA or proteins within the chromosomes.

Since proteins were known to be so important and are polymers made of 20 different amino acid monomers, they were the prime suspects for carrying genetic information. Structural genes contain instructions for making proteins, which build and operate cells and the body as a whole. DNA polymers contain only 4 kinds of nucleotide monomers. Numerous diseases were found to be a consequence of defective proteins, which were in turn made under the direction of genes.

In 1952, Alfred Hershey and Martha Chase formulated a hypothesis in which bacteriophages attach to the cell wall and inject its DNA into the bacterium, therefore transmitting the genetic information. This process would produce new phages, proving the DNA is the genetic material and its protein coat is merely a combination package crate and a micro-syringe. Hershey and Chase added radioactive 35 S to a liquid nutrient media and radioactive 32 P to another, spun the cultures in a Waring blender to shear away attached phages, and centrifuged the bacteria from the liquid. In the end, Hershey and Chase found only 32 P in the pellet of the bacteria, providing conclusive evidence that the phage genetic material consisted of DNA, not protein (Figure 2). In 1952, Rosalind Franklin photographed crystals of highly purified DNA showing a twisted helix. The bases, perpendicular to the length of fiber, have sugar-phosphate molecules on the outside of the helix.

Further analysis showed one turn of the helix contains ten nucleotides and the diameter of the DNA suggests it is composed of more than one strand. With this information, James Watson and Francis Crick discovered the true structure of DNA in 1953 and created a 3 -D model showing the double-helix (Figure 3). In the model, nitrogen-containing bases (nucleotides) pair up: adenine pairs with thymine (A-T) and guanine pairs with cytosine (G-T). (Figure 4) Watson and Crick noticed that for hydrogen bonds to form properly between the base pairs in DNA, the two nucleotide strands of the DNA molecule had to run anti-parallel. Two strands allow the DNA and chromosomes to reproduce to form new cells that contain two pairs of chromosomes.

DNA molecules are packed into 23 pairs of chromosomes in the nucleus of a cell. DNA contains nucleotides, five-carbon sugars (deoxyribose), and phosphate groups bonded between the sugars (Figure 1). The bases connect to the sugar-phosphate backbone by hydrogen bonding. Nucleotides are linked in a strand of DNA with a phosphate group attached to a 5 carbon of sugar that is joined to a 3 carbon of sugar of an adjacent nucleotide, forming a string of alternating phosphate and sugar groups (Figure 3). Each bond forms a base pair, which is generally used as the measurement for determining the genome size. The human genome consists of 3. 2 billion base pairs that are repeated many times throughout the genome.

The sequence specifies the exact genetic instructions that makes up the blue-print for life and distinguishes one species from another. All organisms have similarities in their DNA sequences, so insights gained by non-human genomes often lead to new knowledge about human biology. DNA Replication DNA replicates (duplicates) just before cell division. When two strands of DNA separate, each strand can be used as a template, or a mold, to produce a complementary strand. DNA is described as semi conservative because its molecule has one old strand and one new strand.

Before replication, proteins pry the double helix open at the replication forks, where unwinding and replication take place. DNA helicase enzymes then bind and move along the double helix in opposite directions from the origin, separating the two strands. The two DNA strands are separated along the hydrogen bonds that link the paired bases, much like opening a zipper. The enzyme, DNA polymerase, grasps a template strand exposed by helicase and moves along the strand to make a new DNA strand. Nucleotides, added one by one to the 3 end, are paired by hydrogen bonding to an exposed base on the DNA template. Nucleotides are only added from the 5 end to the 3 end.

In the opposite direction, nucleotides are added in small Okazaki fragments, named after Reiji Okazaki who discovered this process. After DNA strands open, DNA polymerase adds bases to the strand and DNA ligase joins the ends. DNA polymerase carefully proofreads, allowing for less than 1 mistake per billion nucleotides. Mutations Damaged or mutated DNA are heritable changes that may result from uncorrected errors in replication, failure to repair damage correctly, or from spontaneous rearrangements.

A mutation is a permanent change in the bases that make up a g...


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