Evidence map›Paper›PMID 42182474›Full record

ArticlebioRxiv : the preprint server for biology2026

Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposons.

Lei Yang, Sara Nematbakhsh, Amanda Norsemen, Richard N McLaughlin

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Lei YangPacific Northwest Research Institute, Seattle, WA, USA.
Sara NematbakhshPacific Northwest Research Institute, Seattle, WA, USA.
Amanda NorsemenPacific Northwest Research Institute, Seattle, WA, USA.
Richard N McLaughlinPacific Northwest Research Institute, Seattle, WA, USA.ORCID 0000-0003-0950-2253

Funding

Leveraging natural and directed evolution to dissect the functional consequences of sequence variation in human L1 retrotransposonsR35GM142773 · NIGMS · PACIFIC NORTHWEST RESEARCH INSTITUTE · PI MCLAUGHLIN, RICHARD NOEL · 2021 to 2025
$2.5M
Reverse transcriptase-mediated expansion of the host innate immune systemR21AI174130 · NIAID · PACIFIC NORTHWEST RESEARCH INSTITUTE · PI MCLAUGHLIN, RICHARD NOEL · 2023 to 2024
$506k
NIAID NIH HHS R21 AI174130NIGMS NIH HHS R35 GM142773
6 · The paper itself

Abstract

LINE-1 retrotransposons are the only autonomous mobile elements still active in human genomes and remain a potent source of mutation, genome remodeling, and disease risk. However, young, full-length, potentially active copies (the elements most likely to shape present-day genomes) have been largely inaccessible to population-scale analysis because they are long, repetitive, and poorly resolved by short-read sequencing. Here, we use 47 phased long-read assemblies from the Human Pangenome Reference Consortium, representing 94 haplotypes, to build an allele-resolved view of recent human LINE-1 evolution. We identify 13,617 LINE-1 alleles with intact ORF1 and ORF2 across 683 unique insertion sites, revealing that every genome carries a distinct repertoire of potentially active source elements. These intact LINE-1 profiles recapitulate broad human population structure while exposing a large, rare, and population-enriched reservoir of mobile-element diversity missed by single-reference approaches. We also resolve a structurally variable chromosome 11 LINE-1 array, demonstrating that local duplication and rearrangement can amplify LINE-1 sequence independently of canonical retrotransposition. By comparing full-length LINE-1 sequences, we define activity signatures that separate ancient remnants from recently expanding lineages and uncover young LINE-1 groups whose activity is not fully explained by canonical subfamily labels. Sequence-network analyses further reveal a dynamic history of lineage turnover, in which successful source elements rise, seed new insertions, and are replaced by descendants marked by specific nucleotide changes. Together, these data transform human LINE-1s from a repetitive background into a resolved evolutionary system, linking insertion polymorphism, coding potential, population history, and recent retrotransposon adaptation. Our findings establish the human pangenome as a framework for discovering active source elements and for testing how mobile DNA continues to shape genome evolution, host defense, and disease risk.

Identifiers

PMID42182474
PMCPMC13192797

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.