Publications by authors named "Diana Siao Cheng Han"

2 Publications

  • Page 1 of 1

Nuclease deficiencies alter plasma cell-free DNA methylation profiles.

Genome Res 2021 Sep 1. Epub 2021 Sep 1.

The Chinese University of Hong Kong;

The effects of DNASE1L3 or DNASE1 deficiency on cell-free DNA (cfDNA) methylation was explored in plasma of mice deficient in these nucleases and in DNASE1L3-deficient humans. Compared to wild-type cfDNA, cfDNA in -deficient mice was significantly hypomethylated, while cfDNA in -deficient mice was hypermethylated. The cfDNA hypomethylation in -deficient mice was due to increased fragmentation and representation from open chromatin regions (OCRs) and CpG islands (CGIs). These findings were absent in -deficient mice, demonstrating the preference of DNASE1 to cleave in hypomethylated OCRs and CGIs. We also observed a substantial decrease of fragment ends and coverage at methylated CpGs in the absence of DNASE1L3, thereby demonstrating that DNASE1L3 prefers to cleave at methylated CpGs. Furthermore, we found that methylation levels of cfDNA varied by fragment size in a periodic pattern, with cfDNA of specific sizes being more hypomethylated and enriched for OCRs and CGIs. These findings were confirmed in DNASE1L3-deficient human cfDNA. Thus, we have found that nuclease-mediated cfDNA fragmentation markedly affected cfDNA methylation level on a genome-wide scale. This work provides a foundational understanding of the relationship between methylation, nuclease biology and cfDNA fragmentation.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1101/gr.275426.121DOI Listing
September 2021

Facial Puffiness in a 9-Year-Old Girl.

Clin Chem 2020 04;66(4):627-628

Department of Chemical Pathology, Prince of Wales Hospital, Shatin, Hong Kong SAR, China.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/clinchem/hvaa006DOI Listing
April 2020
-->