Presence of transposable elements (TEs) in the human genome has profound ef
fects on genome function, structure and evolution. TE mobility and inter-TE
recombination are the origin of a large spectrum of mutations and genome r
eorganization leading to diseases. From the data provided by the Human Geno
me Project and from information on the detection and dynamics of TEs within
and between species acquired during the last two decades, we now know that
these elements are not only involved in mutagenesis but can also participa
te in many cellular functions including recombination, gene regulation, pro
tein-coding RNA messages and, possibly, cellular stress response and centro
mere function. TEs also promote a general genome shuffling process that has
been important for the evolution of several gene families and for the deve
lopment of new regulatory pathways.