How changes in LINE‑1 'jumping' DNA affect human health
Official title: Leveraging natural and directed evolution to dissect the functional consequences of sequence variation in human L1 retrotransposons
Funded at Pacific Northwest Research Institute · NIH-11376348 · Data updated 2026-11-12
This work looks at how different versions of LINE‑1 mobile DNA might copy themselves more or less and create mutations that could affect human health.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pacific Northwest Research Institute NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | September 1, 2021 |
| Project end | June 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $9,121 |
| NIH project number | 3R35GM142773-05S1 |
| Project ID | NIH-11376348 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with cancers, inherited genome instability syndromes, or conditions suspected to involve increased mobile element activity would be most relevant to the questions this research addresses.
✕Less likely to help
People whose health problems are unrelated to DNA mutations or mobile element activity are unlikely to gain direct benefit from this work in the near term.
What this research studies
From a patient's point of view, researchers are comparing many naturally occurring human LINE‑1 sequences and testing them in the lab to see which versions can escape the cell's defenses and replicate. They combine computer analyses of past human genomes with lab experiments using a panel of over 130 recent human LINE‑1 variants and directed evolution methods. The team measures how sequence differences change LINE‑1 activity in human cells and how host proteins restrict them. These approaches aim to map which changes lead to genome instability or increased mutational risk.
Why it matters
Potential benefit: If successful, the findings could clarify how LINE‑1 activity contributes to cancer and other diseases and suggest targets for future diagnostics or interventions.
How similar studies have gone: Previous research has shown that LINE‑1 elements can be active and that host restriction factors evolve to block them, but using large panels of human LINE‑1 variants combined with directed evolution to map functional effects is a newer, more comprehensive approach.
Where this research is happening
-
Pacific Northwest Research Institute
Seattle, United States Active
Researchers
- Principal investigator: Mclaughlin, Richard Noel — Pacific Northwest Research Institute
- Study coordinator: Mclaughlin, Richard Noel
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Understanding how 'jumping genes' in our DNA affect human health
This research explores how certain 'jumping genes' in human DNA, called L1 retrotransposons, change and move, and how these changes might lead to diseases like autoimmune conditions and cancers.
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Understanding how genetic variations in human L1 retrotransposons affect health
This study is looking at how certain pieces of DNA, called L1 retrotransposons, can change and affect our health, especially in relation to autoimmune diseases and cancers, to help us understand how they might escape the body's defenses.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.