Low genetic heterogeneity of copy number variations (CNVs) in the genes encoding the human deoxyribonucleases 1-like 3 and II potentially relevant to autoimmunity

Deoxyribonucleases (DNases) might play a role in prevention of autoimmune conditions such as systemic lupus erythematosus through clearance of cell debris resulting from apoptosis and/or necrosis. Previous studies have suggested that variations in the in vivo activities of DNases I-like 3(1L3) and I...

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Bibliographic Details
Published in:PloS one 2019-04, Vol.14 (4), p.e0215479-e0215479
Main Authors: Ueki, Misuzu, Fujihara, Junko, Kimura-Kataoka, Kaori, Yamada, Kazuo, Takinami, Yoshikazu, Takeshita, Haruo, Iida, Reiko, Yasuda, Toshihiro
Format: Article
Language:English
Subjects:
Analysis
Apoptosis
Autoimmune Diseases
Autoimmunity
Autoimmunity - genetics
Biochemistry
Biodiversity
Causes of
Chronic conditions
Copy number
Copy number variations
Deoxyribonuclease
Deoxyribonucleases - genetics
Deoxyribonucleic acid
DNA
DNA Copy Number Variations
Endodeoxyribonucleases - genetics
Enzymes
Genes
Genetic aspects
Genetic diversity
Genetic Heterogeneity
Genetics
Genomes
Germany
Health aspects
Heterogeneity
Humans
In vivo methods and tests
Japan
Legal medicine
Lupus
Lupus erythematosus
Medicine
Mutation
Necrosis
Nucleases
Population studies
Populations
Rheumatoid arthritis
Systemic lupus erythematosus
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Summary:Deoxyribonucleases (DNases) might play a role in prevention of autoimmune conditions such as systemic lupus erythematosus through clearance of cell debris resulting from apoptosis and/or necrosis. Previous studies have suggested that variations in the in vivo activities of DNases I-like 3(1L3) and II have an impact on autoimmune-related conditions. The genes for these DNases are known to show copy number variations (CNVs) whereby copy loss leads to a reduction of the in vivo activities of the enzymes, thereby possibly affecting the pathophysiological background of autoimmune diseases. Using a simple newly developed quantitative real-time PCR method, we investigated the distributions of the CNVs for DNASE1L3 and DNASE2 in Japanese and German populations. It was found that only 2 diploid copy numbers for all of these DNASE CNVs was distributed in both of the study populations; no copy loss or gain was evident for any of the autoimmune-related DNase genes. Therefore, it was demonstrated that these human autoimmune-related DNase genes show low genetic diversity of CNVs resulting in alterations of the in vivo levels of DNase activity.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0215479