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Alu-Containing Exons are Alternatively Spliced Rotem Sorek,1,2,4

Summary: Alu-Containing Exons are Alternatively Spliced
Rotem Sorek,1,2,4
Gil Ast,3
and Dan Graur1
Department of Zoology, George S. Wise Faculty of Life Sciences, Tel Aviv University, Ramat Aviv 69978, Israel;
Compugen, Tel Aviv 69512, Israel; 3
Department of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University,
Ramat Aviv 69978, Israel
Alu repetitive elements are found in 1.4 million copies in the human genome, comprising more than one-tenth
of it. Numerous studies describe exonizations of Alu elements, that is, splicing-mediated insertions of parts of Alu
sequences into mature mRNAs. To study the connection between the exonization of Alu elements and
alternative splicing, we used a database of ESTs and cDNAs aligned to the human genome. We compiled two
exon sets, one of 1176 alternatively spliced internal exons, and another of 4151 constitutively spliced internal
exons. Sixty one alternatively spliced internal exons (5.2%) had a significant BLAST hit to an Alu sequence, but
none of the constitutively spliced internal exons had such a hit. The vast majority (84%) of the Alu-containing
exons that appeared within the coding region of mRNAs caused a frame-shift or a premature termination
codon. Alu-containing exons were included in transcripts at lower frequencies than alternatively spliced exons
that do not contain an Alu sequence. These results indicate that internal exons that contain an Alu sequence are


Source: Ast, Gil - Department of Molecular Genetics and Biochemistry, Tel Aviv University
Graur, Dan - Department of Biology and Biochemistry, University of Houston


Collections: Biology and Medicine; Environmental Sciences and Ecology