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See also: Breeding of Animals; Ethics and
Genetics; Mendelian Genetics; Mendelian
Inheritance; Multifactorial Inheritance;
Transgenic Animals
Transposable Elements
R H A Plasterk
Copyright ß 2001 Academic Press
doi: 10.1006/rwgn.2001.1316
Transposable elements, or transposons, are discrete
segments of DNA that can move within genomes.
They were discovered in maize by Barbara
McClintock, as the cause of unstable mutations (the
instability resulting from excision of the transposon),
and have since been found in every organism that was
analyzed in any detail.
In the first approximation transposons are prob-
ably best viewed as molecular parasites, segments of
genetic material that can ensure their own replication
(albeit with the aid of multiple host factors). Note that
this does not exclude that some transposons may have
acquired a function that is beneficial to the host organ-
ism; in ecological terms one could say that in those
cases strict parasitism has turned into symbiosis. A
well-known example in the present time is the rapid
spread of antibiotic resistance genes via transposable
elements. A more hypothetical example is the integra-
tion of the RAG transposon into a predecessor of the
immunoglobulin genes; this triggered the develop-
ment of the current repertoire of segments of verte-
brate immunoglobulin genes, which are combined
through V(D)J recombination, a descendant of RAG
transposon excision.
There are bacterial transposons that encode factors
for conjugative pili, and thus ensure their spread
between cells. One step further along these lines are
transposons where the state after leaving one cell and
before entering the other cell has become stabilized.
Thus bacteriophage Mu can be viewed as a trans-
poson, but it is also a perfectly fine member of the
family of lambdoid temperate bacteriophages. Simi-
larly retroviruses such as MoMLV and MMTV can be
viewed as retrotransposons that can be packaged.
Not all genetic elements that move within or
between genomes are considered transposons. In
general, the ability to integrate into several different
positions in the genome distinguishes transposons
from other elements. Alternatively mobile elements
may move by site-specific recombination, as is the
case for the well-studied bacteriophage lambda (see
Site-Specific Recombination).
Structure of Transposons
Transposons are mostly flanked by short direct
repeats of host DNA, which result from duplication
of the target DNA during the integration reaction (see
below). The termini of the transposons themselves are
often inverted repeats; some level of symmetry should
be no surprise if one realizes that the mechanistic
events that integrate each of the two transposon ends
are usually identical. Transposons minimally encode
their own transposase, the protein(s) required for the
transposition reaction (see below). In addition they
can encode e.g., antibiotic resistance genes, in the
case of many bacterial transposons, and structural
virion genes, e.g., in the case of retroviruses and bac-
teriophage Mu. Bacterial transposons such as Tn10
and Tn5 are composite elements: they consist of two
insertion sequences (IS10 for Tn10, and IS50 for Tn5)
flanking a unique middle segment, which encodes the
transposase; IS sequences are also found as separate
mobile elements in the genome.
Bacterial transposase proteins often show a cis-
preference, meaning that the protein acts preferen-
tially on the nearest transposon termini it encounters
after it has been synthesized, those of the actual
encoding element itself. In eukaryotes where there is
spatial separation between cytoplasmic transposase
protein synthesis and nuclear transposase activity,
there can be no preference for any transposase to act
on the encoding copy of the transposon. Hence, in
the common situation where a genome contains
multiple copies of a given transposon, there is no
selective disadvantage for a given copy to lose the
transposase gene, as long as it can move using the
transposase encoded by other copies. Copies encod-
ing an active transposase are called autonomous;
mutant derivatives (usually deletions) that have lost
their own transposase genes are called nonautono-
mous. The first class of transposons, discovered by
McClintock, owes its double name to this: Ac/Ds for