Biology:5-base sequencing
5-base sequencing refers to the detection of five nucleotide bases in DNA, including the four standard bases (adenine, guanine, cytosine, and thymine) and a modified base, 5-methylcytosine (5mC), an important epigenetic marker.[1] In a typical DNA sequencing experiment, the epigenetic modification is lost during PCR amplification step and only the base forms of nucleotides are recognized.[2] In a 5-base sequencing based experiment, the information about methylation of cytosines is preserved through chemical or enzymatic modification allowing inference of methylation status during bioinformatics analysis.[3] More recently, nanopore or single-molecule realtime sequencing have enabled direct detection of methylated cytosines without any conversion of the DNA.[4][5] In October 2025, Illumina announced a proprietary 5-base sequencing solution using an engineered DNA for 5mC detection on top of standard bases.[6]
The approach can further be extended to detect 5hmC modification, known as 6-base genome or sequencing.[2]
See also
- Epigenetics
- DNA methylation
- Enzymatic methyl-seq
References
- ↑ López, V.; Fernández, A. F.; Fraga, M. F. (August 2017). "The role of 5-hydroxymethylcytosine in development, aging and age-related diseases". Ageing Research Reviews 37: 28–38. doi:10.1016/j.arr.2017.05.002. ISSN 1872-9649. PMID 28499883.
- ↑ 2.0 2.1 "What is the 6-base genome? | biomodal" (in en-GB). 2024-03-27. https://biomodal.com/blog/what-is-the-6-base-genome/.
- ↑ Lister, Ryan; Ecker, Joseph R. (June 2009). "Finding the fifth base: genome-wide sequencing of cytosine methylation". Genome Research 19 (6): 959–966. doi:10.1101/gr.083451.108. ISSN 1088-9051. PMID 19273618.
- ↑ Angeloni, Allegra; Ferguson, James; Bogdanovic, Ozren (2022). "Nanopore Sequencing and Data Analysis for Base-Resolution Genome-Wide 5-Methylcytosine Profiling". Chromatin. Methods in Molecular Biology (Clifton, N.J.). 2458. pp. 75–94. doi:10.1007/978-1-0716-2140-0_5. ISBN 978-1-0716-2139-4.
- ↑ Tse, O. Y. Olivia; Jiang, Peiyong; Cheng, Suk Hang; Peng, Wenlei; Shang, Huimin; Wong, John; Chan, Stephen L.; Poon, Liona C. Y. et al. (2021-02-02). "Genome-wide detection of cytosine methylation by single molecule real-time sequencing". Proceedings of the National Academy of Sciences 118 (5). doi:10.1073/pnas.2019768118. PMID 33495335. Bibcode: 2021PNAS..11819768T.
- ↑ "Illumina fuels multiomic discovery with launch of 5-base solution, unlocking simultaneous genomic and epigenomic insights" (in en). https://www.illumina.com/company/news-center/press-releases/press-release-details.html?newsid=ed906867-8ddf-4219-b15f-b8aa8facbd11.
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