%0 Journal Article
%T Alu elements: know the SINEs
%A Prescott Deininger
%J Genome Biology
%D 2011
%I BioMed Central
%R 10.1186/gb-2011-12-12-236
%X Alu elements represent one of the most successful of all mobile elements, having a copy number well in excess of 1 million copies in the human genome [1] (contributing almost 11% of the human genome). They belong to a class of retroelements termed SINEs (short interspersed elements) and are primate specific. These elements are non-autonomous, in that they acquire trans-acting factors for their amplification from the only active family of autonomous human retroelements: LINE-1 [2].Although active at higher levels earlier in primate evolution, Alu elements continue to insert in modern humans, including somatic insertion events, creating genetic diversity and contributing to disease through insertional mutagenesis. They are also a major factor contributing to non-allelic homologous recombination events causing copy number variation and disease. Alu elements code for low levels of RNA polymerase III transcribed RNAs that contribute to retrotransposition. However, the ubiquitous presence of Alu elements throughout the human genome has led to their presence in a large number of genes and their transcripts. Many individual Alu elements have wide-ranging influences on gene expression, including influences on polyadenylation [3,4], splicing [5-7] and ADAR (adenosine deaminase that acts on RNA) editing [8-10].This review focuses heavily on studies generated as a result of the advent of high-throughput genomics providing huge datasets of genome sequences, and data on gene expression and epigenetics. These data provide tremendous insight into the role of Alu elements in genetic instability and genome evolution, as well as their many impacts on expression of the genes in their vicinity. These roles then influence normal cellular health and function, as well as having a broad array of impacts on human health.The general structure of an Alu element is presented in Figure 1a. The body of the Alu element is about 280 bases in length, formed from two diverged dimers, ancestrally deri
%K Alu
%K diversity
%K evolution
%K gene expression
%K genetic instability
%K mutagenesis
%K retroelements
%K transposition
%U http://genomebiology.com/2011/12/12/236