Mobile elements and disease.
A substantial fraction of mammalian genomes is composed of mobile elements and their remnants. Recent insertions of LTR-retrotransposons, non-LTR retrotransposons, and non-autonomous retrotransposons have caused disease frequently in mice, but infrequently in humans. Although many of these elements are defective, a number of mammalian non-LTR retrotransposons of the L1 type are capable of autonomous retrotransposition. The mechanism by which they retrotranspose and in turn aide the retrotransposition of non-autonomous elements is being elucidated.
Department of Genetics, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania 19104, USA. kazazian@mail.med.upenn.edu
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D000818:Animals; D004194:Disease / Q000209:etiology*; D006801:Humans; D020071:Interspersed Repetitive Sequences / Q000235:genetics*; D016254:Mutagenesis, Insertional