Transponable elements: the jumping genes of our genome

In the same way that grasshoppers are jumping and moving through the field, there is a type of genes that jump through our genome and change its position. Our genome is not static, so read on to know everything about these kinds of genes.

THE DISCOVERY OF TRANSPONABLE ELEMENTS

Barbara McClintock discovered transposable elements, or also called mobile genetic elements because of their ability to move around the genome. The “jumping genes,” as this American geneticist christened them, changed the knowledge about genetics so far, since at first the scientific community did not believe in the idea that a DNA sequence could move on its own.

She had a special relationship with corn, a plant domesticated by man for 10,000 years and has become one of the three most cultivated cereals in the world. In addition, it is one of the most important staple foods since from it many derived products are made, such as flours and oils. Its great industrial value has made it have been studied in depth and its genome has been sequenced.

McClintock began studying the DNA of corn and observed that there were a number of genetic sequences that, without knowing how, changed position within the genome. Somehow, these sequences turned on or off the expression of other corn genes and this was observed with the naked eye; the grains of a corn cob could be of different colours (Figure 1), even within the same grain there were areas of various colours. Then McClintock sought the answer of how this was possible if the genes responsible for colour were inherited from the parents. The result was the discovery of the transposable elements, which led her to win the Nobel Prize in Medicine in 1983.

elemento transponible maiz
Figure 1. (A) P gene gives a purple grain. (B) A transponable element is inserted in the middle of the P gen and the grain has no pigmentation. (C) Corn cob wit some grains with P gene intact and others with P gene interrupted by a mobile genetic element. (Source: Porque biotecnología, adaptation)

EFFECTS OF THE CHANGE OF POSITION

When the transposable elements jump and change position they produce a loss of bases when leaving the place where they rested. This loss of some bases does not have “much” importance. But if the transposable element is inserted into a gene, there is an addition of a large number of bases that will cause the loose of gene’s function. For this reason, mobile genetic elements produce mutations because by jumping and changing their location, they alter the DNA sequence and prevent genes from encoding proteins through the genetic code. However, when they jump again, the gene regains its functionality and expresses itself as if nothing had happened.

Often, these jumping genes are considered parasites, because the cell cannot get rid of them. Although they can also bring benefits to the cell, such as transporting advantageous genes. The best known example is not found in humans, but in bacteria and their resistance to antibiotics such as penicillin, discovered by Alexander Fleming. The spread of antibiotic resistance is due to genes that encode enzymes that inactivate them, and that are located in mobile genetic elements. It is usually related to the horizontal transfer of genes, in which they can move from one cell to another as if they were bees that go from flower to flower. When this happens, the transposable element is introduced into a new cell and inserted into the genome of this new cell. That is when it will be faithfully transmitted to its progeny through the normal process of DNA replication and cell division.

TYPES OF TRANSPONABLE ELEMENTS

It is estimated that in the human genome there are 44% transposable elements, which can amount to 66% taking into account repeated fragments and short sequences derived from them. The consequence is that we have more than 1000 genes regulated, directly or indirectly, by sequences from transposable elements.

So far, two types of transposable elements are known: class I transposable elements or retrotransposons and class II transposable elements or DNA transposons. They are classified according to whether they require reverse transcription to jump and transpose or not.

Reverse transcription is similar to the transcription process, but with the difference that it occurs in reverse. That is, if in the classical transcription process a single strand of RNA is obtained from a double strand of DNA, in reverse transcription of an RNA molecule a DNA molecule is obtained. This is common in viruses such as HIV virus (AIDS) or hepatitis virus, but also in some class I transposable elements. These are very abundant and represent 90% of the transposable elements of our genome.

Instead, the others are class II transposable elements or DNA transposons. These are the elements that McClintock discovered in corn, with a 10% representation in our genome and responsible for the spread of antibiotic resistance in bacterial strains.

It should be noted that DNA transposons never use intermediaries, but are autonomous. They jump from one place of the genome to another by themselves, without any help. The mechanism they use is called “cut and paste” and is similar to the cut and paste we use on the computer. The DNA transposon cuts the DNA sequence that has end and look for another place to settle. Then there it also cuts the DNA sequence and is “hooked” (Figure 2).

transposon
Figure 2. Mechanism of cutting and pasting (Source: SITN: science in the news)

It is currently known that the activity of transposable elements is a source of evolutionary innovation due to the generation of mutations, which could have been key both in the development of organisms and in different evolutionary phenomena such as speciation; the process by which a population of a given species gives rise to another or other species.

The vast majority of these mutations are deleterious to organisms, but some of them will lead to adaptive improvement and tend to spread throughout the population. We could put our hand in the fire and we probably wouldn’t burn to ensure that much of the variability that life shows around us originally comes from the displacement of mobile genetic elements or transposable elements.

(Main picture: ABC Canada)

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