Transposition

Transposons
• given a variety of names including; transposon,
transposable genetic elements, movable genes,
controlling elements, and jumping genes.
• Found in all organisms
• 45% of human genome
• Through their movement (transposition), transposable
elements often cause mutations, either by inserting
into another gene and disrupting it
• or by promoting DNA rearrangements such as
chromosome deletions, duplications, and inversions
 Transposons
• some have simple structures, encompassing
only those sequences necessary for their
transposition, whereas others have complex
structures and encode a number of functions
not directly related to transposition.
• many transposable elements have certain
features in common.
 Flanking direct repeats & terminal
inverted repeats
• Short flanking direct repeats from 3 to I2 bp long are present on both sides
of most transposable elements.
• The sequences of these repeats vary, but the length remain constant for
each type of transposable element.
• These repeats are not a part of a transposable element and do not travel
with it. They are generated in the process of transposition, at the point of
insertion.
• During transposition, flanking repeats are created when staggered cuts are
made in the target DNA
• The staggered cuts leave short single stranded pieces of DNA on either
side oft he transposable element. Replication of the singe stranded DNA
then creates the flanking direct repeats.
• Many transposable elements are terminal inverted repeats- sequences
from 9 to 40 bp in length that are inverted complements of one another.
These sequences are recognised by enzymes for transposition.
 Transposition
• transposition is the movement of a transposable element
from one location to another.
• different mechanisms are used
• All types of transposition have several features in common:
( 1) staggered breaks are made in the target DNA;
(2) the transposable element is joined to single-stranded end
of the target DNA;
(3) DNA is replicated at the single-strand gaps.
A tranposase enzyme, often encoded by the transposable
element is used to make the staggered breaks in DNA and
to integrate the transposable element into a new site.
 DNA transpossons and
retrotransposons
• Some transposable elements transpose as DNA
and are referred to as DNA transposons (also
called Class ll transposable elements). Other
transposable elements transpose through an RNA
intermediate (retrotransposons/Class I
transposons).
• Most transposable elements found in bacteria are
DNA transposons. Both DNA transposons and
retrotransposons are found in eukaryotes, but
retrotransposons are more common.
 Transposons in Eukaryotes
• One group is structurally similar to transposable
elements in bacteria, ending in short inverted
repeats and transposing as DNA: examples include
the P elements in Drosophila and the Ac and Ds
elements in maize (corn).
• The other group comprises retrotransposons they
use RNA intermediates, and many are similar in
structure and movement to retroviruses.
 Retrotransposons
• Evolutionarily related to retroviruses
• Different from other transposons but
retrotransposons also generate direct repeats
at the point of insertion.
• Retrotransposons include the Ty elments in
yeast, the copia elements in Drosophila, and
the Alu sequences in humans.
Ac and Ds elements in maize (corn)
• Identified by Barbara McClintock, won Nobel
prize for the discovery
Ac and Ds elements in maize (corn)
• McClintock discovered that the cause of the
unstable mutation was a gene that moved.
• Chromosome breakage in maize often occurred at
a gene that she called Dissociation (Ds) but only if
another gene, the Activator (Ac) was also present.
• Occasionally, the genes moved together to a
different chromosomal location.
• These moving genes were called controlling
elements because they controlled the expression
of other genes.
Ac and Ds elements in maize (corn)
• DNA transposons that possess terminal inverted
repeats and generate flanking direct repeats at the
points of insertion.
• Each Ac element contains a single gene that encodes a
transposase enzyme.
• Ac elements are autonomous- able to transpose.
• Ds elements are Ac elements with one or more
deletions that have inactivated the transposase gene.
Unable to transpose on their own so transpose only
only in the presence of Ac elements because they still
possess terminal inverted repeats recognized by Ac
transposase.
 Transposons in Drosophila
• A number of different transposable elements are found in
Drosophila.
• One family of Drosophila transposable elements comprises the P
elements.
• Most functional P elements are about 2900 bp long, although
shorter P elements containing deletions also exist.
• Each P element possesses terminal inverted repeats and generates
flanking direct repeats at the site of insertion.
• P elements are DNA transposons, each element encodes both a
transposase and a repressor of transposition.
• The role of this repressor in controlling transposition is
demonstrated dramatically in hybrid dysgenesis, i.e. sudden
appearance of numerous mutations, chromosome aberrations,
and sterility in the offspring of a cross between a P+ male fly (with
P elements) and a P- female fly (without P elements).
 Transposon in virus
• The best studied transposable bacterial virus
is bacteriophage Mu.
 Transposition
• Among DNA transposons, transposition may be replicative
or nonreplicative.
• In replicative transposition (also called copy-and-paste
transposition), a new copy of the transposable element is
introduced at a new site while the old copy remains behind
at the original site, so the number of copies of the
transposable element increases as a result of transposition.
• In non-replicative transposition (cut –and-paste
transposition), the transposable new site without any
increase in the number of its copies.
• Nonreplicative transposition requires the replication of
omy the few nucleotides that constitute the direct repeats.
• Retrotransposons use replicative transposition omy.
 Control of Transposition
• Many organisms limit transposition by methylating the DNA
in regions where transposons are common.
• DNA methylation usully suppresses transcription,
preventing the
production of the transposase enzyme necessary for
transposition.
• Alterations of chromatin structure also are used to prevent
the transcription of transposons.
• translation of the transposase mRNA is controlled Piwi
interacting
• RNAs (piRNAs) to silence transposons;
• piRNAs combine with piwi proteins and inhibit the
expression of transposon sequences.