ArticleAmerican journal of human genetics2020
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.
Erratum issuedOpen access · bronzeAbstract read
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Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 42 papers, 1 of them a synthesis that pooled it.
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42citing papers in PubMed, 1 pooled it
13.1field-weighted citation impact, top 1% of its field
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Pulmonary arterial hypertension susceptibility and mortality among patients with systemic sclerosis with the DNASE1L3 rs35677470 (Arg206Cys) variant.Annals of the rheumatic diseases · 2026Pooled it
- Long-read sequencing identifies aberrant fragmentation patterns linked to elevated cell-free DNA levels in cancer.Genome biology · 2026Article
- Longitudinal cell-free DNA methylome and fragmentome profiles in health uncover signatures of cell type and demographic origin.Genome medicine · 2026Article
- A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection.Nature cancer · 2026Article
- DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade.ACR open rheumatology · 2026Article
- Early-onset systemic lupus erythematosus-ANCA-associated vasculitis overlap syndrome caused by DNASE1L3 deficiency.Rheumatology (Oxford, England) · 2025Article
- The circulating cell-free DNA landscape in sepsis is dominated by impaired liver clearance.Cell genomics · 2025Article
- Seminal plasma cfDNA fragmentomics landscape delineates male infertility subtypes.Clinical epigenetics · 2025Article
- Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis.Lupus science & medicine · 2025Article
- Analysis of a cell-free DNA-based cancer screening cohort links fragmentomic profiles, nuclease levels, and plasma DNA concentrations.Genome research · 2025Article
- Cell-free DNA profiles of dermatomyositis and its potential role in discriminating phenotypes.Frontiers in immunology · 2025Article
- Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns.Nature communications · 2024Article
- De novo variants in immune regulatory genes in Down syndrome regression disorder.Journal of neurology · 2024Article
- The Dual Role of Neutrophil Extracellular Traps (NETs) in Sepsis and Ischemia-Reperfusion Injury: Comparative Analysis across Murine Models.International journal of molecular sciences · 2024Article
- Genomic origin, fragmentomics, and transcriptional properties of long cell-free DNA molecules in human plasma.Genome research · 2024Article
- Language model enables end-to-end accurate detection of cancer from cell-free DNA.Briefings in bioinformatics · 2024Article
- Plasma cell-free DNA as a sensitive biomarker for multi-cancer detection and immunotherapy outcomes prediction.Journal of cancer research and clinical oncology · 2024Article
- Deficiency of macrophage-derived Dnase1L3 causes lupus-like phenotypes in mice.Journal of leukocyte biology · 2023Article
- Identifying pathogenic variants related to systemic lupus erythematosus by integrating genomic databases and a bioinformatic approach.Genomics & informatics · 2023Article
- Fragmentation landscape of cell-free DNA revealed by deconvolutional analysis of end motifs.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
25 authors at 7 institutions in 7 countries.
Rebecca W Y ChanLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Lee SerpasDepartment of Pathology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Meng NiLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Stefano VolpiClinica Pediatrica e Reumatologia, Centro per le malattie Autoinfiammatorie e Immunodeficienze, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili (DINOGMI), Università degli Studi di Genova, 16132 Genova, Italy.
Linda T HirakiDivision of Rheumatology, The Hospital for Sick Children, Toronto, ON M5G 1X5, Canada.
Lai-Shan TamDepartment of Medicine & Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Ali RashidfarrokhiDepartment of Pathology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Priscilla C H WongDepartment of Medicine & Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Lydia H P TamDepartment of Medicine & Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Yueyang WangDepartment of Pathology, New York University Grossman School of Medicine, New York, NY 10016, USA.
Peiyong JiangLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Alice S H ChengLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Wenlei PengLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Diana S C HanLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Patty P P TseLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Pik Ki LauLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Wing-Shan LeeLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Alberto MagnascoDivision of Nephrology, Dialysis and Transplantation, Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Giannina Gaslini, 16147 Genova, Italy.
Elisa ButiNefrologia e Dialisi, Azienda Ospedaliero Universitaria Meyer, 50139 Firenze, Italy.
Vanja SisirakCNRS-UMR 5164, ImmunoConcEpt, Université de Bordeaux, 33076 Bordeaux, France.
Nora AlMutairiSabah Hospital, Jaber Al Ahmad Al Jaber Al Sabah Hospital, Kuwait.
K C Allen ChanLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Rossa W K ChiuLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Boris ReizisDepartment of Pathology, New York University Grossman School of Medicine, New York, NY 10016, USA. Electronic address: boris.reizis@nyulangone.org.
Y M Dennis LoLi Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China. Electronic address: loym@cuhk.edu.hk.
Chinese University of Hong Kong · HKNew York University · USIstituto Giannina Gaslini · ITAl-Sabah Hospital · KWCentre National de la Recherche Scientifique · FRHospital for Sick Children · CAMeyer Children's Hospital · IT
Funding
Translational Center of Molecular Profiling in Preclinical and Established Lupus (COMPEL)P50AR070591 · NIAMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI BUYON, JILL P · 2017 to 2021
$6.7MTraining Program in Immunology and Inflammation.T32AI100853 · NIAID · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Susan Ruth Schwab · 2012 to 2026
$4.5MMechanisms of DNA-Specific Autoimmunity in Systemic Lupus ErythematosusR01AR071703 · NIAMS · UNIVERSITY OF CHICAGO · PI Jill P Buyon, GEORGE Georgiou GEORGIOU · 2018 to 2026
$4.4MTranslational Basic and Clinical Research Training in RheumatologyT32AR069515 · NIAMS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Jill P Buyon, Jose U. Scher · 2017 to 2026
$2.9MNIAID NIH HHS T32 AI100853NIAMS NIH HHS P50 AR070591NIAMS NIH HHS R01 AR071703NIAMS NIH HHS T32 AR069515
Abstract
Plasma DNA fragmentomics is an emerging area in cell-free DNA diagnostics and research. In murine models, it has been shown that the extracellular DNase, DNASE1L3, plays a role in the fragmentation of plasma DNA. In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus with childhood onset and anti-dsDNA reactivity. In this study, we found that human patients with DNASE1L3 disease-associated gene variations showed aberrations in size and a reduction of a "CC" end motif of plasma DNA. Furthermore, we demonstrated that DNA from DNASE1L3-digested cell nuclei showed a median length of 153 bp with CC motif frequencies resembling plasma DNA from healthy individuals. Adeno-associated virus-based transduction of Dnase1l3 into Dnase1l3-deficient mice restored the end motif profiles to those seen in the plasma DNA of wild-type mice. Our findings demonstrate that DNASE1L3 is an important player in the fragmentation of plasma DNA, which appears to act in a cell-extrinsic manner to regulate plasma DNA size and motif frequency.
Indexed as
MutationAnimalsCase-Control StudiesDependovirusDisease Models, AnimalDNADNA FragmentationEndodeoxyribonucleasesGenetic TherapyGenetic VectorsHumansLupus Erythematosus, SystemicMiceMice, TransgenicSubstrate SpecificityTransduction, GeneticDNADNASE1L3 protein, humanDnase1l3 protein, mouseEndodeoxyribonucleasesautoimmune diseasebiomarkerscfDNAcirculating DNAliquid biopsysystemic lupus erythematosus
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