Nuclease deficiencies alter plasma cell-free DNA methylationprofiles (mouse)

The effects of DNASE1L3 or DNASE1 deficiency on cfDNA methylation was explored in plasma of mice deficient in these nucleases and in DNASE1L3-deficient humans. Compared to wildtype cfDNA, cfDNA in Dnase1l3-deficient mice was significantly hypomethylated, while cfDNA in Dnase1-deficient mice was hypermethylated. The cfDNA hypomethylation in Dnase1l3-deficient mice was due to increased fragmentation and representation from open chromatin regions (OCRs) and CpG islands (CGIs). These findings were absent in Dnase1-deficient mice.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001007751	The dataset contains sequencing data in wildtype, Dnase1-deficient and Dnase1l3-deficient mice. We performed 2 x 75bp paired-end whole genome bisulfite sequencing of pooled plasma cell-free DNA (cfDNA) and buffy coat genomic DNA. The effects of DNASE1L3 or DNASE1 deficiency on cfDNA methylation was explored in plasma of mice deficient in these nucleases.	Illumina HiSeq 4000 NextSeq 500	36

Publications	Citations
Nuclease deficiencies alter plasma cell-free DNA methylation profiles. Han DSC, Ni M, Chan RWY, Wong DKL, Hiraki LT, Volpi S, Jiang P, Lui KO, Chan KCA, Chiu RWK, Lo YMD. Genome Res 31: 2021 2008-2021	6