Alu elements and
post-transcriptional processing of transcripts.
The majority of
human genes include transposable Alu repetitive
elements in their introns. These elements
are bounded by AAAA and TTTT sequences, which allow both
transposition among inrons and formation of hairpin
loops. If these sequences accumulate mutations,
they may wrongly signal transcriptional processing
events, resulting in alternative splicing of
exons, or altered polyadenylation, which may
affect gene function.