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Methods Mol Biol. 2016;1400:79-93. doi: 10.1007/978-1-4939-3372-3_5.

Long Interspersed Element Sequencing (L1-Seq): A Method to Identify Somatic LINE-1 Insertions in the Human Genome.

Author information

1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
2
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. kazazian@jhmi.edu.
3
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. kazazian@jhmi.edu.

Abstract

L1-seq is a high-throughput sequencing technique which is utilized to identify novel L1 insertions in genomic DNA samples of interest. Using special diagnostic nucleotides unique to the youngest and most active L1 sequence, we can amplify new somatic insertions. This technique has helped to establish the number of L1 insertions present in the general population as well as the variation among individuals with regard to their complement of active L1 elements. More recently, this technique has been employed to assess the level of retrotransposition occurring in various diseases such as cancer. These efforts try to establish a connection between the process of retrotransposition and disease development and/or progression.

KEYWORDS:

L1; LINE-1; Next-Generation DNA sequencing; Non-LTR retrotransposon; Retroelement

PMID:
26895047
PMCID:
PMC5340310
DOI:
10.1007/978-1-4939-3372-3_5
[Indexed for MEDLINE]
Free PMC Article

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