# Single Molecule Detection of L1 Insertions and Intermediates

> **NIH NIH UG3** · DANA-FARBER CANCER INST · 2024 · $428,166

## Abstract

Project Summary
Transposable elements are major sources of heritable human genetic variation and can contribute to disease by
causing somatic mutations. This application focuses on the development of genomic tools and technologies to
assess the contributions of these transposons to somatic mosaicism in normal tissues. Specifically, we will
develop tools and technologies to detect variants in long interspersed element-1 (LINE-1, L1) sequences. L1 is
the only active self-propagating protein-coding transposon in humans. We each inherit a distinct complement of
active L1 loci, each of which is typically repressed through methylation of its internal promoter. Here, we propose
to develop single cell mapping approaches to detect de novo L1 insertions and integrate these with long-read
sequencing approaches to reveal the epigenetic status of source elements. We will also pioneer highly innovative
approaches to detect intermediates of the target primed reverse transcription (TPRT) reaction that gives rise to
L1 insertion events. Our multidisciplinary team brings together investigators with expertise in retrotransposon
biology and genetic variation; innovation in the field of epigenetics; and experience with molecular biology and
computational genomics methods development. Our shared goal in this UG3/UH3 project is to provide enabling
tools and technologies to the Somatic Mosaicism across Human Tissues (SMaHT) Network.

## Key facts

- **NIH application ID:** 10818615
- **Project number:** 5UG3NS132127-02
- **Recipient organization:** DANA-FARBER CANCER INST
- **Principal Investigator:** BRADLEY Evan BERNSTEIN
- **Activity code:** UG3 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $428,166
- **Award type:** 5
- **Project period:** 2023-04-01 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10818615

## Citation

> US National Institutes of Health, RePORTER application 10818615, Single Molecule Detection of L1 Insertions and Intermediates (5UG3NS132127-02). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10818615. Licensed CC0.

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