Transposable elements (TEs) — commonly
called ‘jumping genes’ — are stretches of DNA
that move around the genome of a cell, and the
genomes of many higher organisms are clut-
tered with numerous copies of these enigmatic
elements. They were discovered by Barbara
McClintock in the 1950s (Box 1), but it has
taken half a century to begin to understand
how they act and the effects they can have. It
is emerging that these elements have had a sig-
nificant influence on the evolution of genomes,
particularly by controlling gene activity.
The elements contain in their sequence all
the instructions needed to cut themselves out
of their host DNA and splice themselves into
another spot. But they are not always benign
‘junk’ DNA — they can insert into genes or gene
regulatory elements, potentially disrupting the
gene’s function, and they can trigger chromo-
some rearrangements. So, even though most
copies are selectively neutral and not in them-
selves damaging, they have long been consid-
ered as predominantly harmful to their hosts, as
they can contribute to the appearance of muta-
tions, some of which can result in disease.
But TEs do not always have adverse effects,
and their mutational activities contribute to
the genetic diversity of the organism. Indeed,
some TEs have been domesticated by their host
genome, acting as genes or gene regulatory
elements, and as a result constitute a source of
genetic innovation for the organism
1,2
. Progress
in understanding how these elements are regu-
lated is bringing an appreciation of how an indi-
vidual’s environment can affect the expression
of their genetic complement to produce their
own particular characteristics (phenotypes),
such as physical appearance, behaviour, suscep-
tibility to disease and even neuronal function.
Diversity
Transposable elements are scattered through-
out the genomes of many plants and animals,
and can form a large proportion of the genome
size (Table 1). There are two main classes of
TE: DNA transposons, which act through a
DNA intermediate and multiply by using the
host cell’s replication machinery, and retro-
transposons, which act through an RNA inter-
mediate. Retrotransposons are further sub-
divided into those that have ‘long terminal
repeats’ at their ends (LTR retrotransposons)
and those that do not (non-LTR retrotrans-
posons; Box 2). In addition, TEs with compos-
ite structures are continually being discovered,
illustrating the enormous flexibility of these
elements. For example, DNA transposon-like
elements called helitron rolling-circle elements
were recently found to be responsible for copy-
ing various gene segments into new locations
in the maize genome, generating a huge diver-
sity among individual maize plants
3
.
When LTR retrotransposons are excised
from the genome, they leave behind an LTR
sequence. Some genomes, particularly those of
plants, are full of these lone LTRs. Because they
GENETICS
Junk DNA as an evolutionary force
Christian Biémont and Cristina Vieira
Transposable elements were long dismissed as useless, but they are emerging as major players in evolution.
Their interactions with the genome and the environment affect how genes are translated into physical traits.
PIXFOLIO/ALAMY
Transposable elements
affect maize colour.
521
NEWS & VIEWS FEATURE
Vol 443|5 October 2006
Nature Publishing Group ©2006