Evidence map›Paper›PMID 40598895›Full record

ArticleNucleic acids research2025

The origin of mirror repeats in the human genome.

Ryan McGinty, Alisa Lyskova, Sergei M Mirkin

Abstract read
In one paragraph

Article in Nucleic acids research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

3 authors.

Ryan McGintyDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, United States.ORCID 0000-0003-3439-7301
Alisa LyskovaFaculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow 119234, Russia.
Sergei M MirkinDepartment of Biology, Tufts University, Medford, MA 02155, United States.ORCID 0000-0003-4576-7582

Funding

Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
The origin, the function and the phenotypic impact of human allelesR35GM127131 · NIGMS · HARVARD MEDICAL SCHOOL · PI SHAMIL SUNYAEV · 2018 to 2026
$8.1M
NIGMS Equipment SupplementR35GM130322 · NIGMS · TUFTS UNIVERSITY MEDFORD · PI SERGEI MIRKIN · 2019 to 2026
$4.6M
Predicting the impact of genetic variants, genes and pathways on human DiseaseU01HG012009 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ALKES L PRICE, Soumya Raychaudhuri · 2021 to 2026
$4.2M
NHGRI NIH HHS U01 HG012009NHGRI NIH HHS U01HG012009NIGMS NIH HHS R35 GM127131NIGMS NIH HHS R35GM127131NIGMS NIH HHS R35 GM130322NIGMS NIH HHS R35GM130322NIMH NIH HHS R01 MH101244NIMH NIH HHS R01MH101244NSF 2153071
6 · The paper itself

Abstract

Mirror DNA repeats were found in genomic DNA several decades ago, but their role and the mechanisms leading to their abundance have remained a mystery. The only firmly established functional property was that the subset of long homopurine-homopyrimidine mirror repeats (H-motifs) can form a triple-helical DNA secondary structure (H-DNA). Here, we analyzed the sequence content of mirror repeats in the telomere-to-telomere human genome sequence. Our findings suggest that long mirror repeats in genomic DNA originate exclusively from the expansion of simple tandem repeats (STRs). Strikingly, long H-motifs are highly overrepresented compared to all other mirror repeats and STRs. We hypothesize that long H-motif STRs could be particularly expansion-prone owing to H-DNA-mediated genome instability, pointing to the length at which this structure becomes a significant hindrance.

Indexed as

DNAGenome, HumanMicrosatellite RepeatsRepetitive Sequences, Nucleic AcidGenomic InstabilityHumansNucleic Acid ConformationTelomereDNA

Identifiers

PMID40598895
PMCPMC12214015

What OpenQuestion holds

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Registered trials

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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.