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Characteristics of Transposable Element Exonization within Human and Mouse

Summary: Characteristics of Transposable Element Exonization
within Human and Mouse
Noa Sela1
, Britta Mersch2
, Agnes Hotz-Wagenblatt2
*, Gil Ast1
1 Department of Human Molecular Genetics, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel, 2 Department of Molecular Biophysics, German Cancer
Research Center (DKFZ), Heidelberg, Germany
Insertion of transposed elements within mammalian genes is thought to be an important contributor to mammalian
evolution and speciation. Insertion of transposed elements into introns can lead to their activation as alternatively spliced
cassette exons, an event called exonization. Elucidation of the evolutionary constraints that have shaped fixation of
transposed elements within human and mouse protein coding genes and subsequent exonization is important for
understanding of how the exonization process has affected transcriptome and proteome complexities. Here we show that
exonization of transposed elements is biased towards the beginning of the coding sequence in both human and mouse
genes. Analysis of single nucleotide polymorphisms (SNPs) revealed that exonization of transposed elements can be
population-specific, implying that exonizations may enhance divergence and lead to speciation. SNP density analysis
revealed differences between Alu and other transposed elements. Finally, we identified cases of primate-specific Alu
elements that depend on RNA editing for their exonization. These results shed light on TE fixation and the exonization


Source: Ast, Gil - Department of Molecular Genetics and Biochemistry, Tel Aviv University


Collections: Biology and Medicine