Definition

of Transposons:
Presence of transposable elements was first predicted by Barbara McClintock in maize (corn) in
late 1940s. After several careful studies, she found that certain genetic elements were moving
from one site to an entirely different site in the chromosome. She called this phenomenon of
changing sites of genetic elements as transposition and those genetic elements were called by
her as controlling elements.
These controlling elements were later on called as transposable elements by Alexander Brink. In
late 1960s this phenomenon was also discovered in bacteria.

Consequently, the molecular biologists called them as Transposons. A transposon may be defined
as: “a DNA sequence that is able to move or insert itself at a new location in the genome.” The
phenomenon of movement of a transposon to a new site in the genome is referred to as
transposition.
Transposons are found to encode a special protein named as transposase which catalyses the
process of transposition. Transposons are particular to different groups of organisms. They
constitute a fairly accountable fraction of genome of organisms like fungi, bacteria, plants,
animals and humans. Transposons have had a major impact on changing or altering the genetic
composition of organisms.
Transposons or transposable genetic elements are often referred to as ‘mobile genetic elements’
also. They can be categorized on different bases like their mode of transposition or on the basis
of the organisms in which they are present.
Types of Transposons:
Different transposons may change their sites by following different transposition mechanisms.

On the basis of their transposition mechanism, transposons may be categorized into following
types:
(i) Cut-and-Paste Transposons:
They transpose by excision (cutting) of the transposable sequence from one position in the
genome and its insertion (pasting) to another position within the genome (Fig. 1).

The cut-and-paste transposition involves two transposase subunits. Each transposase submit
binds to the specific sequences at the two ends of transposon. These subunits of transposase
protein then come together and lead to the excision of transposon.
This excised ‘transposon-Transposase Complex’ then gets integrated to the target recipient site.
In this manner, the transposon is cut from one site and then pasted on other site by a mechanism
mediated by transposase protein (Fig. 2).

Examples of cut-and-paste type of transposons are IS-elements, P-elements in maize, hobo-
elements in Drosophila etc.
(ii) Replicative Transposons:
They transpose by a mechanism which involves replication of transposable sequence and this
copy of DNA, so formed, is inserted into the target site while the donor site remains unchanged
(Fig. 3). Thus, in this type of transposition, there is a gain of one copy of transposon and both-the
donor and the recipient DNA molecule are having one-one transposable sequence each, after
transposition.

Tn3-elements found in bacteria are good examples of such type of transposons.
(iii) Retro Elements:
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Their transposition is accomplished through a process which involves the synthesis of DNA by
reverse transcription (i.e. RNA DNA) by using elements RNA as the template (Fig. 4). This type of
transposition involves an RNA intermediate, the transposable DNA is transcribed to produce an
RNA molecule.
This RNA is then used as a template for producing a complementary DNA by the activity of
enzyme reverse transcriptase. This single stranded DNA copy so formed, is then made double
stranded and then inserted into the target DNA site. The transposable elements which require
reverse transcriptase tor their movement are called retro transposons.

The Retro elements may be viral or non-viral. Out of these two, the non-viral retro elements are
important and may further be classified as:
(A) Retrovirus like elements:
They carry long terminal repeats (LTR). Examples are copia, gypsy elements in Drosophila.
Retroposons:
LTR are absent. Examples are LINEs and SINEs in humans.
Transposable Elements in Prokaryotes:
Although the presence of transposons was predicted in eukaryotes but first observation at
molecular level was done in bacteria, which is a prokaryote.
Bacterial transposable elements are of the following types:
(a) Insertion Sequences or IS Elements:
They are the transposable sequences which can insert at different sites in the bacterial
chromosomes.
IS-elements contain ITRs (Inverted Terminal Repeats), these were first observed in E.coli. IS
elements are relatively short usually not exceeding 2500 bp. The ITRs present at the ends of IS-
elements are an important feature which enables their mobility. The ITRs present in the IS-
elements of E.coli usually range between 18-40 bp.
The term ‘Inverted Terminal Repeat’ (ITR) implies that the sequence at 5 end of one strand is
identical to the sequence at 5ʹ end of the other strand but they run in inverse opposite direction
(Fig. 5). In Exoli chromosome, a number of copies of several IS-elements like IS1, IS2, IS3, IS4 and
IS5 are present.

(b) Prokaryotic Transposon Element:
These are also called composite transposons and are shown by the symbol Tn. It is made up of
two IS elements, one present at each end of a DNA sequence which contains genes whose
functions are not related to the transposition process. These transposons have been found to
have inverted repeats at the ends. The length of these inverted repeats ranges from a few
nucleotides to about 1500 bp.
It can be said that these are the large transposons which are formed by capturing of an immobile
DNA sequence within two insertion sequences thus enabling it to move. Examples of such
transposons include the members of Tn series like Tn1, Tn5, Tn9, Tn10, etc.
Transposable Elements in Eukaryotes:
(a) Transposons in Maize:
Different types of transposons present in maize are described below:
Ac-Ds system:
This system of transposable elements in maize was analysed and given by Barbara Mc. Clintock.
Here Ac stands for Activator and Ds for Dissociation. Barbara found that Ds and Ac genes were
sometimes mobile and moved to different chromosomal locations thus resulting in different
kernel phenotypes.
Ds element is activated by Ac and on activation it serves as the site provider for breakage in
chromosome. Ac can move autonomously while Ds can move only in the presence of Ac (Fig. 6).
The transposition involving this Ac-Ds system produces altered kernel phenotypes.
Other transposable elements of maize are:
i. spm (suppressor mutator) system,
ii. dt (dotted) system,
iii. Mu (Mutator) system, etc.

(b) Transposons in Drosophila:
A number of transposable elements are found in Drosophila which are of different types and
account for a quite high fraction of Drosophila genome.
Some of these transposons are given below:
P-elements:
These were discovered during the study of ‘hybrid-dysgenesis’ which is a sterility causing
condition. They are 2.9 kb long and contain 31 bp long inverted terminal repeats High rate of P-
element transposition causes hybrid dysgenesis. P-elements encode transposase enzyme which
helps in their transposition. These are also useful as vectors for introducing foreign genes into
Drosophila.
Copia-elements:
Their transposition causes mutations for eye-colour in Drosophila. They are of size approximately
5-8 kb with direct terminal repeat (DTR) of about 276 bp at each end. Within each of this direct
repeats is present short inverted repeat (IR) of about 17 bp length. About 10-80 copia- elements
are present in cell-genome (Fig. 7).

FB Elements:
These are the fold back elements present in Drosophila genome. These have ability to fold back
to form a stem and loop structure due to the presence of long inverted terminal repeats. Their
transposition results into a changed expression by causing mutation by insertion or by affecting
the normal gene expression.
Other important types of transposable elements found in Drosophila are:
i. I elements,
ii. Mariner elements,
iii. Gypsy elements,
iv. Hobo elements, etc.
(c) Transposons in Humans:
Transposons in humans are in the form of repetitive DNA which consists of sequences that are
interspersed within the entire human genome. These sequences are transposable and can move
to different locations within the genome.
These are of following two types:
(1) SINEs (Short Interspersed Elements):
They are ~ 300 bp long and may be present about 5 lakh times in human genome. Alu sequences
are the best characterized SINEs in humans.
These are termed as ‘Alu’ elements because they contain specific nucleotide sequences which
are cleaved by the restriction enzyme named Alul. Alu elements contain Direct Terminal Repeats
(DTR) of 7-20 bp length. These DTRs help them in the insertion process during transposition.
(2) LINEs (Long Interspersed Elements):
They are ~ 6400 bp long and are present about 1 lakh times in the human genome. Most
prominent example is LI sequence. These transposable elements are some of the most abundant
and common families of moderately repeated sequences in human DNA.
Significance of Transposable Elements:
1. Transposons may change the structural and functional characteristics of genome by changing
their position in the genome.
2. Transposable elements cause mutation by insertion, deletion, etc.
3. Transposons make positive contribution in evolution as they have tremendous impact on the
alteration of genetic organisation of organisms.
4. They are useful as cloning vectors also, in gene cloning. For example, P-elements are frequently
used as vector for introducing transgenes into Drosophila.
5. Transposons may also be used as genetic markers while mapping the genomes.
6. Transposon-mediated gene tagging is done for searching and isolation of a particular gene.