<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Hancks, D. C.</style></author><author><style face="normal" font="default" size="100%">Kazazian, H. H., Jr.</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Active human retrotransposons: variation and disease</style></title><secondary-title><style face="normal" font="default" size="100%">Curr Opin Genet Dev</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Current opinion in genetics &amp; development</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">*DNA Transposable Elements</style></keyword><keyword><style  face="normal" font="default" size="100%">*Genome</style></keyword><keyword><style  face="normal" font="default" size="100%">Alu Elements</style></keyword><keyword><style  face="normal" font="default" size="100%">DNA Methylation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Inborn/diagnosis/*genetics/metabolism</style></keyword><keyword><style  face="normal" font="default" size="100%">Long Interspersed Nucleotide Elements</style></keyword><keyword><style  face="normal" font="default" size="100%">Open Reading Frames</style></keyword><keyword><style  face="normal" font="default" size="100%">Promoter Regions</style></keyword><keyword><style  face="normal" font="default" size="100%">Pseudogen</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2012</style></year></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/22406018</style></url></web-urls></urls><number><style face="normal" font="default" size="100%">3</style></number><edition><style face="normal" font="default" size="100%">2012/03/13</style></edition><volume><style face="normal" font="default" size="100%">22</style></volume><pages><style face="normal" font="default" size="100%">191-203</style></pages><isbn><style face="normal" font="default" size="100%">1879-0380 (Electronic)09</style></isbn><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Mobile DNAs, also known as transposons or &#039;jumping genes&#039;, are widespread in nature and comprise an estimated 45% of the human genome. Transposons are divided into two general classes based on their transposition intermediate (DNA or RNA). Only one subclass, the non-LTR retrotransposons, which includes the Long INterspersed Element-1 (LINE-1 or L1), is currently active in humans as indicated by 96 disease-causing insertions. The autonomous LINE-1 is capable of retrotransposing not only a copy of its own RNA in cis but also other RNAs (Alu, SINE-VNTR-Alu (SVA), U6) in trans to new genomic locations through an element encoded reverse transcriptase. L1 can also retrotranspose cellular mRNAs, resulting in processed pseudogene formation. Here, we highlight recent reports that update our understanding of human L1 retrotransposition and their role in disease. Finally we discuss studies that provide insights into the past and current activity of these retrotransposons, and shed light on not just when, but where, retrotransposition occurs and its part in genetic variation.&lt;/p&gt;
</style></abstract><notes><style face="normal" font="default" size="100%">&lt;p&gt;Curr Opin Genet Dev. 2012 Jun;22(3):191-203. doi: 10.1016/j.gde.2012.02.006. Epub 2012 Mar 8.&lt;/p&gt;
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