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Keloid is a trauma-induced fibroproliferative condition characterized by excessive extracellular matrix (ECM) deposition and aberrant keloid fibroblast activation, leading to physical, psychological, functional, and cosmetic impairments. This study investigates DNA methylation alterations at Long Interspersed Nuclear Element-1 (LINE-1) and Alu repetitive elements in keloid tissues compared to normal skin tissues. Methylation levels and patterns were analyzed in keloid (n = 38) and normal skin tissues (n = 32). The results revealed significantly lower LINE-1 (P < 0.0001) and Alu (P = 0.0147) methylation levels in keloids, with hypomethylation inversely correlated with chronological age. Younger individuals exhibited higher methylation levels compared to older individuals. These findings offer critical insights into the epigenetic mechanisms underlying keloid formation and progression, providing a foundation for developing epigenetic-based therapeutic strategies.
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http://dx.doi.org/10.1038/s41598-025-17646-2 | DOI Listing |
Sci Rep
August 2025
Center of Excellence in Burn and Wound Care, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Keloid is a trauma-induced fibroproliferative condition characterized by excessive extracellular matrix (ECM) deposition and aberrant keloid fibroblast activation, leading to physical, psychological, functional, and cosmetic impairments. This study investigates DNA methylation alterations at Long Interspersed Nuclear Element-1 (LINE-1) and Alu repetitive elements in keloid tissues compared to normal skin tissues. Methylation levels and patterns were analyzed in keloid (n = 38) and normal skin tissues (n = 32).
View Article and Find Full Text PDFChin Med J (Engl)
August 2025
State Key Laboratory of Green Biomanufacturing, Tsinghua-Peking Joint Center for Life Sciences, Center for Synthetic and Systems Biology, Beijing Frontier Research Center for Biological Structure, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Transposable elements (TEs), once considered genomic "junk", are now recognized as critical regulators of genome function and human disease. These mobile genetic elements-including retrotransposons (long interspersed nuclear elements [LINE-1], Alu, short interspersed nuclear element-variable numbers of tandem repeats-Alu [SVA], and human endogenous retrovirus [HERV]) and DNA transposons-are tightly regulated by multilayered mechanisms that operate from transcription through to genomic integration. Although typically silenced in somatic cells, TEs are transiently activated during key developmental stages-such as zygotic genome activation and cell fate determination-where they influence chromatin architecture, transcriptional networks, RNA processing, and innate immune responses.
View Article and Find Full Text PDFClin Epigenetics
July 2025
Moffitt Cancer Center, Tampa, FL, USA.
Introduction: Retrotransposons (REs) constitute nearly half of the genome and include long terminal repeat (LTR) elements, Long INterspersed Elements (LINE), and Short INterspersed Elements (SINE). REs are typically silenced in somatic tissues via DNA methylation but can be reactivated through DNA hypomethylation, potentially impacting gene regulation. Here, we investigate genome-scale profiles of RE methylation in high-grade serous ovarian carcinoma (HGSOC) and associations with survival among Black women.
View Article and Find Full Text PDFNature
August 2025
European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Genomic structural variants (SVs) contribute substantially to genetic diversity and human diseases, yet remain under-characterized in population-scale cohorts. Here we conducted long-read sequencing in 1,019 humans to construct an intermediate-coverage resource covering 26 populations from the 1000 Genomes Project. Integrating linear and graph genome-based analyses, we uncover over 100,000 sequence-resolved biallelic SVs and we genotype 300,000 multiallelic variable number of tandem repeats, advancing SV characterization over short-read-based population-scale surveys.
View Article and Find Full Text PDFNucleic Acids Res
June 2025
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, United States.
Alu elements are primate-specific retrotransposons that comprise ∼11% of human DNA. Alu sequences contain an internal RNA polymerase III promoter, and the resultant Alu RNA transcripts mobilize by a replicative process termed retrotransposition, which requires the long interspersed element-1 open reading frame 2-encoded protein (ORF2p). Here, we used HeLa cell-based retrotransposition assays to define a minimal Alu domain necessary for retrotransposition.
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