Evidence map›Paper›PMID 40940643›Full record

ArticleGenome biology2025

Diverse short tandem repeat sequences influence gene regulation in human populations.

Aleksandra Mitina, Worrawat Engchuan, Brett Trost, Giovanna Pellecchia, Stephen W Scherer, Ryan K C Yuen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

6 authors.

Aleksandra MitinaGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Worrawat EngchuanGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Brett TrostGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Giovanna PellecchiaGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Stephen W SchererGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Ryan K C YuenGenetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. ryan.yuen@sickkids.ca.

Funding

CIHR PJT-175329
6 · The paper itself

Abstract

backgroundShort tandem repeat (STR) length is a known determinant of pathogenicity in a variety of human disorders. The repeat sequence itself can modulate disease severity and penetrance; however, the broader impact of STR sequence variation on gene expression in the general population remains poorly understood.

resultsHere, we analyze the sequence composition of STRs across two general population cohorts of unrelated individuals (n = 3,150) and report that ~ 7% of STRs exhibit sequence variability, with distinct patterns observed among different ethnic groups. These variable repeats are more prone to expansion and are frequently found in proximity to Alu elements. Notably, STRs with variable motifs are often found near splice junctions of genes involved in brain and neuronal functions. This is supported by the differential expression of genes associated with neuron and cellular projection functions, driven by the presence of distinct STR sequences.

conclusionsOur findings underscore the previously unrecognized role of STR sequence variability in modulating gene expression and contributing to human phenotypic diversity.

Indexed as

Gene Expression RegulationGenetic VariationMicrosatellite RepeatsAlu ElementsHumansDNA tandem repeatGene expressionSequence variability

Identifiers

PMID40940643
PMCPMC12433003

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.