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Genes make up just 2% of our DNA, scientists still puzzled by 98%

Researchers say that much of the human genome was previously thought to be “junk DNA,” but it turns out it’s not that simple.

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Back in the spring of 2003, scientists who worked on the Human Genome Project completed sequencing the human genome, reports Science Focus.

However, this human “Book of Life” remains difficult to read even for the world’s leading geneticists. Researchers are still sorting through the data.

One of the biggest questions that has been raised is: why is the human genome so huge?

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The striking thing about the completed human genome was how little of it seemed to do anything at all. The human genome contains about three billion nucleotide pairs. Of this amount, less than 2% (about 20,000) are genes encoding proteins that direct the cells of our body. But what does the rest of the human genome do?

Some called this part junk DNA, considering it genetic gibberish—a remnant of millions of years of evolution. While some of this genetic “gibberish” really doesn’t work, not all of it is useless.

Gradually, scientists are beginning to shed light on this dark side of the human genome. Some of this “garbage heap” performs crucial regulatory or modification functions for genomes that encode proteins. Some compare these DNA sequences to volume buttons that determine the expression of our genes.

Large sections of the dark genome are also made up of long, repeating DNA sequences known as transposons. They play an important role in the expression of genes associated with crucial stages of human evolution. Scientists suggest that they are related to our ability to adapt to the environment.

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Transposons, also known as “jumping genes,” can move from one region of the genome to another. This ability can cause significant genetic mutations and changes.

For example, transposons may be associated with the development of opposable thumbs in humans, as well as the loss of the tail in us and other great apes.

In some cases, “jumping genes” are associated with the development of tumors, as well as some hereditary diseases. For example, hemophilia and Duchenne muscular dystrophy arise from repetitive DNA sequences associated with transposons.

In the coming decades, scientists hope to decipher this dark human genome, leading to a new generation of treatments for genetic diseases.

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Jake Carter

Jake Carter is a researcher and a prolific writer who has been fascinated by science and the unexplained since childhood. He is always eager to share his findings and insights with the readers of anomalien.com, a website he created in 2013.