Retrotransposition and Structural Variation in the Human Genome

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Retrotransposition and Structural Variation in the Human Genome James R. Lupski Cell Volume 141, Issue 7, Pages 1110-1112 (June 2010) DOI: 10.1016/j.cell.2010.06.014 Copyright © 2010 Elsevier Inc. Terms and Conditions

Figure 1 Identifying Repetitive Sequences and Structural Variations in the Human Genome Four different studies use diverse genome-wide assays of personal genomes with or without next-generation massively parallel DNA sequencing to identify repetitive sequences and structural variations in the human genome (Beck et al., 2010; Huang et al., 2010; Iskow et al., 2010; Ewing and Kazazian, 2010). The L1(Ta) repeat sequences represent relatively young retrotransposition events of LINE elements. Alu is the most frequent repetitive sequence class in the human genome, originally identified more than 30 years ago by reassociation techniques. All four studies show that LINE and Alu elements contribute to structural variations in the human genome. XLID, X-linked intellectual disability. Cell 2010 141, 1110-1112DOI: (10.1016/j.cell.2010.06.014) Copyright © 2010 Elsevier Inc. Terms and Conditions