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- W2051216786 abstract "LINE-1 (L1) elements are the most abundant autonomous non-LTR retrotransposons in the human genome. Having recently performed a meta-analysis of L1 endonuclease-mediated retrotranspositional events causing human genetic disease, we have extended this study by focusing on two key issues, namely, mutation detection bias and the multiplicity of mechanisms of target gene disruption. Our analysis suggests that whereas an ascertainment bias may have generally militated against the detection of autosomal L1-mediated insertions, autosomal L1 direct insertions could have been disproportionately overlooked owing to their unusually large size. Our analysis has also indicated that the mechanisms underlying the functional disruption of target genes by L1-mediated retrotranspositional events are likely to be dependent on several different factors such as the type of insertion (L1 direct, L1 trans-driven Alu, or SVA), the precise locations of the inserted sequences within the target gene regions, the length of the inserted sequences, and possibly also their orientation." @default.
- W2051216786 created "2016-06-24" @default.
- W2051216786 creator A5024873764 @default.
- W2051216786 creator A5042443600 @default.
- W2051216786 creator A5066521398 @default.
- W2051216786 date "2006-01-01" @default.
- W2051216786 modified "2023-10-18" @default.
- W2051216786 title "LINE-1 Endonuclease-Dependent Retrotranspositional Events Causing Human Genetic Disease: Mutation Detection Bias and Multiple Mechanisms of Target Gene Disruption" @default.
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- W2051216786 doi "https://doi.org/10.1155/jbb/2006/56182" @default.
- W2051216786 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1510945" @default.
- W2051216786 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16877817" @default.
- W2051216786 hasPublicationYear "2006" @default.
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