ArticleScience advances2025
Association of human-specific expanded short tandem repeats with neuron-specific regulatory features.
Article in Science advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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.
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Who cites it
5 citing papers in PubMed.
- Tandem repeat polymorphisms are associated with brain structure: results of two large population-based studies.Genome medicine · 2026Article
- Tandem repeat variation within and between species reveals signatures of selection in humans and chimpanzees.bioRxiv : the preprint server for biology · 2026Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- Emergence and Tandem Repeat-Mediated Elongation of a Translated De Novo Open Reading Frame in Human Oncogenic RNA Gene VPS9D1-AS1 (MYU).Genome biology and evolution · 2026Article
- The effect of human-specific genetic variants on neuronal spinogenesis.Frontiers in genetics · 2026Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Short tandem repeats (STRs), characterized by high-copy number mutations, represent one of the fastest-evolving genomic elements. However, human-specific expanded STRs (heSTRs) have lacked comprehensive genome-wide characterization. Leveraging 148 human and 26 nonhuman primate haploid genomes, we identified 8813 heSTRs with robust expansions in copy number distributions. Our analysis revealed notable associations between heSTRs and brain- and neuron-specific distal regulatory signals. Potential target genes regulated by heSTRs, identified by incorporating distal regulations, are enriched with neuronal development-related functions and disorders, displaying neuron-specific expression enhancement in humans. Moreover, heSTRs are associated with enhanced chromatin accessibility specifically in human neurons. In addition, heSTRs show substantial association with pathogenic STR loci exhibiting abnormal copy number variations, as reported by cohort studies on schizophrenia and autism. This study underscores the role of heSTRs in both human evolution and disorders, offering valuable insights for future research on STRs from an evolutionary perspective.
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Registered trials
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