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Updated: Mar 21, 2026
11:52
Analysis of LINE-1 Retrotransposition at the Single Nucleus Level
Published on: April 23, 2016
8.9K
Roles for retrotransposon insertions in human disease
Dustin C Hancks1, Haig H Kazazian2
1Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT USA.
Mobile DNA
|May 10, 2016
Summary
New human genetic diseases are caused by Long INterspersed Element-1 (LINE-1) retrotransposon insertions. This review covers LINE-1 biology and recent disease-causing insertion reports.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Transposable elements (TEs) drive genome evolution and can cause disease through new insertions.
- Long INterspersed Element-1 (LINE-1 or L1) is the only active autonomous non-LTR retrotransposon in humans.
- LINE-1 retrotransposons can mobilize their own RNA and other cellular RNAs to new genomic locations.
Purpose of the Study:
- To provide an overview of LINE-1 biology.
- To highlight recent reports of LINE-1-mediated genetic diseases in humans.
Main Methods:
- Literature review of LINE-1 biology.
- Compilation and summary of reported LINE-1-mediated genetic diseases.
Main Results:
- 124 cases of LINE-1-mediated insertions causing genetic diseases in humans have been reported.
- LINE-1 insertions offer insights into genomic parasites and disease mechanisms.
Conclusions:
- LINE-1 retrotransposons are significant contributors to human genetic disease.
- Understanding LINE-1 activity is crucial for studying genetic disorders.
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