Abstract
The LINE-1 family of interspersed repeated DNA sequences that is ubiquitous in placental mammals and marsupials is now known to include active transposable elements. This was first suspected some years ago because 1) LINE-1 segments are generally surrounded by short direct repeats that were either known or presumed to be target site duplications and 2) alleles that differ by the presence or absence of a LINE-1 segment were known (reviewed in Bellis et al., 1987). Proof of transposability in the human genome was provided by two recent reports. First, two unrelated boys suffering from Hemophilia A contain LINE-1 insertions in a Factor VIII gene exon, insertions that do not occur in the X-chromosomes of the patients’ mothers (Kazazian et al., 1988). Second, one myc allele in a human breast adenocarcinoma contains a LINE-1 insertion, an insertion that is absent in the myc alleles in the patient’s normal tissue (Morse et al., 1988).
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