An introduction to transposons
• Transposons are sequences of DNA that can move around to different positions within
the genome of a single cell, a process called transposition. In the process, they can cause
mutations and change the amount of DNA in the genome.
• They were discovered by Barbara McClintock early in her career, for which she was
awarded a Nobel prize in 1983.
• The human genome project revealed that less than 5% of the human genome is likely to
consist of functioning genes. Of the remaining 95% of non-functioning genes, nearly
50% is thought to consist of transposable elements or transposons.
• Transposons are often referred to as “jumping genes” as they are segments of DNA
which are able to “jump” from location to location within a genome. This "jumping"
process is called transposition.
• Transposons are very useful to researchers as a means to alter DNA inside of a living
organism. Transposons make up a large fraction of genome sizes which is evident
through the C-values of eukaryotic species.
Figure showing
simple transposons
Applications
The first transposon was discovered in the plant maize (Zea mays, corn species), and is named
dissociator (Ds). Likewise, the first transposon to be molecularly isolated was from a plant
(Snapdragon). Appropriately, transposons have been an especially useful tool in plant molecular
biology. Researchers use transposons as a means of mutagenesis. In this context, a transposon
jumps into a gene and produces a mutation. The presence of the transposon provides a
straightforward means of identifying the mutant allele, relative to chemical mutagenesis methods.
Sometimes the insertion of a transposon into a gene can disrupt that gene's function in a
reversible manner; transposase-mediated excision of the transposon restores gene function. This
produces plants in which neighboring cells have different genotypes. This feature allows
researchers to distinguish between genes that must be present inside of a cell in order to function
(cell-autonomous) and genes that produce observable effects in cells other than those where the
gene is expressed. Transposons are also a widely used tool for mutagenesis of most
experimentally tractable organisms.
Types of Transposons:
DNA Transposons
Some of the simplest transposons, called DNA transposons, consist of DNA sequences which
code for an enzyme called transposase. Transposase is able to cleave a transposon from the
genome, transport it to a new location, and reinsert it into the genome. This process is called
elements discovered by Barbara McClintock within the maize corn genome. McClintock
discovered that Ac transposons are self-sufficient in that they code for their own transposase
elements discovered by Barbara McClintock in the maize corn genome. McClintock discovered
transposons do not code for their own transposase enzyme so they must depend on excess
Retrotransposons
The majority of eukaryotic transposable elements are more complex transposons called
retrotransposons. The host cell recognizes the retrotransposon as a normal DNA sequence within
its genome, and synthesizes an RNA copy of it. However, the retrotransposon codes for an
enzyme called reverse transcriptase which is able to convert the RNA copy of the retrotransposon
into an exact DNA duplicate of the original. Transposase (which has been coded for by the
retrotransposon) then finds a suitable location to insert the new retrotransposon into the genome.
transposition will produce multiple copies of the retrotransposon within the genome.
Viral Retrotransposons
be found within the yeast genome. During transposition, the Ty element is very prone to
mutation. As a result, there are many variations of Ty transposons passed down through
throughout the yeast genome. The Ty transposable element causes harmful mutations by
being inserted into, and disrupting, various genes within the yeast genome.
found within the drosophila (fruit fly) genome. There are seven known families of
Drosophilacopia transposons within the fruit fly genome, each of which has 10-100
copies within the genome. All together, Drosophilacopia transposons comprise 15% of
the Drosophila (fruit fly) genome. The Drosophilacopia transposon is very similar in
structure to the Ty transposon in yeast. When inserted into the genome, the
genome at either of its ends. The Drosophilacopia transposon causes mutations by being
inserted into functioning genes and disrupting their function and regulation. An example
of such a mutation is the White Apricot Mutation which causes a variation in the colour
Non-Viral Retrotransposons
Examples:
LINEs- There are roughly 850 000 LINES, or long interspersed (transposable) elements,
within each human genome. Some cases of hemophilia are caused by the insertion of a
LINE transposon into a gene on the X chromosome which is partly responsible for the
clotting of blood.
SINEs- There are roughly 1 500 000 SINEs, or short interspersed (transposable)
elements, within each human genome. Among these are the Alu Transposable Elements.
Alu Elements- Alu elements are the most common transposable elements within the
human genome, making up more than 5%. It is believed that approximately 30-50 million
years ago, Alu elements spread rapidly throughout the primate genome. Although they
had lost the majority of their activity before the evolution of human-like apes, they are
still a popular source of research. Approximately 0.1% of human genetic diseases are
It is estimated that 50 LINE transposons and few, if any, DNA transposons remain
functional within the human genome. On the other hand, the mouse genome plays host to
an estimated 3000 active LINE transposons and many active DNA transposons. Transposons also
vary within plant species. The maize corn genome has doubled in length over the past 3
Functional transposons pose an enormous risk to the genome because of their mobility
and instability. When a transposon relocates within the genome it may land on a vital gene,
disrupting its function. Or, the transposon may land near vital genes, causing them to be
every transposon. In humans, genetic diseases are sometimes caused by the transfer of a
transposon from one location to another within the genome during sperm/egg production. As a
result of the transposon's movement, a genetic mutation often arises, which may trigger the
developement of a genetic disease. Should the offspring mature, this genetic mutation will be
harmful retrotransposon insertions. The chart also shows the genes which were disrupted by such
However, the danger of transposons today is not often seen as an enormous concern.
With all of the precautions taken by our cells, transposition within the genome has become a
rather infrequent event. One scientist, named Kleckner, estimated that the rate of transposition
within the human genome is between 10-4 and 10-7 times per transposon present, per generation.
Scientists are optimistic that transposons will prove to be more and more useful in future
scientific research and medical treatment. It is thought that transposons may prove useful as a
method of gene therapy. Transposons could be used as vectors to deliver new, properly
Despite all of the optimistic talk of transposons and their great potential, there are still
many great hurdles which scientists have yet to overcome. For example, transposons are very
limited in the size of DNA which they are able to carry during transposition. This puts limitations
on the prospect of transposons being used to carry genes during gene therapy. As well, geneticists
have to be extremely careful in selecting the correct insertion site for a transposon vector during
gene therapy. A tiny mistake could result in the transposon vector disrupting important genes
upon insertion.
• If a transposon inserts itself into a functional gene, it will probably damage it. Insertion
into exons, introns, and even into DNA flanking the genes (which may contain promoters
and enhancers) can destroy or alter the gene's activity.
• The insertion of a retrotransposon in the DNA flanking a gene for pigment synthesis is
thought to have produced white grapes from a black-skinned ancestor. Later, the loss of
that retrotransposon produced the red-skinned grape varieties cultivated today.
• Faulty repair of the gap left at the old site (in cut and paste transposition) can lead to
mutation there.
• The presence of a string of identical repeated sequences presents a problem for precise
pairing during meiosis. How is the third, say, of a string of five Alu sequences on the
"invading strand" of one chromatid going to ensure that it pairs with the third sequence in
the other strand? If it accidentally pairs with one of the other Alu sequences, the result
will be an unequal crossover — one of the commonest causes of duplications.
SINEs (mostly Alu sequences) and LINEs cause only a small percentage of human mutations.
(There may even be a mechanism by which they avoid inserting themselves into functional
genes.) However, they have been found to be the cause of the mutations responsible for some
cases of human genetic diseases, including:
• The genome of Arabidopsis thaliana contains 1.2 x 108 base pairs (bp) of DNA. About
14% of this consists of transposons; the rest functional genes (about 25,000 of them).
• The maize (corn) genome contains 20 times more DNA (2.4 x 109 bp) but surely has no
need for 20 times as many genes. In fact, 60% of the corn genome is made up of
transposons. (The figure for humans is 44%.)
• Most of the 2.5 x 1011 bp of DNA in the genome of Psilotum nudum is presumably "junk"
DNA.
So it seems likely that the lack of an association between size of genome and number of
functional genes — the C-value paradox — is caused by the amount of transposon DNA
accumulated in the genome
Tn 10 is a transposable element, which is a sequence of DNA that is capable of mediating its own
movement through the DNA of host organisms. This fragment of DNA can move from position
to position on the chromosome or plasmid by cut-and-paste transposition (also known as 'non-
replicative transposition'). The Tn10 transposon is often used in genetics to transfer and select-for
genes of interest from one organism into the chromosome of another.