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Novel enzyme-based reduced representation method for DNA methylation profiling with low inputs

Title: Novel enzyme-based reduced representation method for DNA methylation profiling with low inputs
Authors: Liu, Qianli; Helmin, Kathryn A; Dortzbach, Zachary D; Reyes Flores, Carla P; Torres Acosta, Manuel A; Gurkan, Jonathan K; Joudi, Anthony M; Mambetsariev, Nurbek; Morales-Nebreda, Luisa; Kang, Mengjia; Rasmussen, Luke; Pérez-Leonor, Xóchitl G; Abdala-Valencia, Hiam; Singer, Benjamin D
Contributors: David W. Cugell Fellowship; Genomics Network; NIH; Northwestern University Flow Cytometry Core Facility; D FACSAria SORP; Northwestern University Metabolomics and Integrative Genomics Core; Genomics Compute Cluster; Feinberg School of Medicine; Center for Genetic Medicine; Feinberg’s Department of Biochemistry and Molecular Genetics; Office of the Provost; Office for Research, and Northwestern Information Technology
Source: Nucleic Acids Research ; volume 53, issue 12 ; ISSN 0305-1048 1362-4962
Publisher Information: Oxford University Press (OUP)
Publication Year: 2025
Description: Commonly used bisulfite-based procedures for DNA methylation sequencing can degrade DNA, worsening signal-to-noise ratios in samples with low DNA input. Enzymatic methylation sequencing (EM-seq) has been proposed as a less biased alternative for methylation profiling with greater genome coverage. Reduced representation approaches enrich samples for CpG-rich genomic regions, thereby enhancing throughput and cost effectiveness. We hypothesized that enzyme-based technology could be adapted for reduced representation methylation sequencing to enable DNA methylation profiling of low-input samples. We leveraged the well-established differences in methylation profile between mouse CD4+ T cell populations to compare the performance of our reduced representation EM-seq (RREM-seq) procedure against an established reduced representation bisulfite sequencing (RRBS) protocol. While the RRBS method failed to generate reliable DNA libraries when using 10-fold higher DNA input. RREM-seq also successfully detected lineage-defining methylation differences between alveolar conventional T and regulatory T cells obtained from patients with severe SARS-CoV-2 pneumonia. Our RREM-seq method enables single-nucleotide resolution methylation profiling using low-input samples, including from clinical sources.
Document Type: article in journal/newspaper
Language: English
DOI: 10.1093/nar/gkaf558
Availability: https://doi.org/10.1093/nar/gkaf558; https://academic.oup.com/nar/article-pdf/53/12/gkaf558/63626067/gkaf558.pdf
Rights: https://creativecommons.org/licenses/by/4.0/
Accession Number: edsbas.71741D6
Database: BASE