What is the Human Genome Project? - Definition, Purpose & Benefits

Instructor: Jeremy Battista
We often hear about scientific research being done but may not truly understand what that entails. This is not one of those times. The Human Genome Project has allowed many breakthroughs in genetic research that affect us in a very tangible way, right here, right now.

What Is The Human Genome Project?

Simply put, the Human Genome Project was a collaboration of many different scientists and researchers who aimed to map out the blueprints for human beings' material makeup. The project began with the idea that we can determine all of the sequences of base pairs of nucleotides that make up deoxyribonucleic acid (DNA). With that, the goal was to identify all the genes of the genome (an organism's DNA sequence) specific to humans, as well as to map out all the different combinations and what each sequence is coded for, or means, in the human DNA code.

Understanding DNA

In a DNA strand, you see four base nucleotides, or subunits that make up the nucleic acids. They are guanine, adenine, thymine and cytosine. Think of each as a different type of Lego block, where each has its own specific shape and size and can only attach to certain other blocks. In the same way, a given nucleotide can only form bonds with certain other nucleotides, and when assembled, the set of 'Legos' forms a double helix, which resembles a twisting ladder. In a nucleic acid sequence, these building blocks - the base nucleotides - are represented as letters, GATC, and are the coding for what makes you, you!

Another term worth noting here is ribonucleic acid (RNA). When discussing DNA, we often see RNA thrown into the mix. Without getting deep into the specifics, RNA helps to copy the DNA and essentially looks the same, but with one different nucleotide - essentially, it resembles a single side of the DNA ladder.

This is DNA on the right and RNA on the left. Both are nucleic acids made up of nucleotides.
DNA structure

In DNA, we see certain nucleotides matching up to other specific nucleotides. Adenine and thymine will always bond, as will cytosine and guanine. Anywhere you run across one of the nucleotides on the DNA ladder, directly across from it is the corresponding nucleotide.

How Did the Project Start?

The Human Genome Project got its start in the mid-1980s, when the groundwork was laid out to plan the massive feat of mapping out the human genome. However, the research phase didn't begin until 1990, as the project had many regulatory and funding hurdles to overcome. It took many meetings and changes until the scientific community and, more importantly, the government would agree to pay for such an undertaking. The actual project was developed and worked on in the United States, the United Kingdom, Japan, China, France, and Germany, making it the largest collaboration of scientists to work on a single project.

In the U.S., the project needed approval from the Department of Energy and National Institutes of Health as well as federal funding. Once approved by all parties, the project took off and moved at a quick pace until its completion in 2003.

What Did the Project Entail?

This project was a vast undertaking due to the sheer magnitude of human DNA: 3.3 billion base pairs to be exact! As such, the project involved breaking the genome into smaller segments. The researchers cut up DNA into 150,000 base pair subunits. These were then replicated using bacteria. Instead of having to work with someones's entire DNA, the researchers worked with smaller segments of it (150,000 base pairs versus 3.3 billion).

RNA was used to help copy the DNA and inserted into some bacteria that the teams were using. The bacteria then created more DNA, somewhat like a photocopier. The RNA acted as a template to created the 'new' DNA. The DNA sets that were created would have all been the same, since one side of the DNA sequence would have been the same.

The Project's Contributions to Science

The Human Genome Project has made numerous contributions to science, especially the medical field. Many of its findings have yet to be applied and recognized, but the project has great implications for the future of humanity. For example, the researchers believed at the onset that it could enhance genotyping (sequencing and identifying the genome) of viruses and diseases.

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