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10.1186/s13100-016-0065-9

http://scihub22266oqcxt.onion/10.1186/s13100-016-0065-9
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C4859970!4859970!27158268
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suck abstract from ncbi

pmid27158268      Mob+DNA 2016 ; 7 (ä): ä
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  • Roles for retrotransposon insertions in human disease #MMPMID27158268
  • Hancks DC; Kazazian HH
  • Mob DNA 2016[]; 7 (ä): ä PMID27158268show ga
  • Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of transposable elements (TE) such as retrotransposons. On a shorter time scale it has been established that new TE insertions can result in single-gene disease in an individual. In humans, the non-LTR retrotransposon Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous TE. In addition to mobilizing its own RNA to new genomic locations via a ?copy-and-paste? mechanism, LINE-1 is able to retrotranspose other RNAs including Alu, SVA, and occasionally cellular RNAs. To date in humans, 124 LINE-1-mediated insertions which result in genetic diseases have been reported. Disease causing LINE-1 insertions have provided a wealth of insight and the foundation for valuable tools to study these genomic parasites. In this review, we provide an overview of LINE-1 biology followed by highlights from new reports of LINE-1-mediated genetic disease in humans.
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