Analysis of copy number variation in the NEDD4L gene potentially implicated in body height in the Japanese population

Ueki, Misuzu; Takeshita, Hitoshi; Fujihara, Junko; Kimura-Kataoka, Kaori; Iida, Reiko; Yasuda, Toshihiro

doi:10.1016/j.legalmed.2019.02.003

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“…The strength of our method is that there is no requirement for obtaining reference DNA with a known copy number, whereas most other methods require reference DNA to determine and/or confirm the copy number by comparison between samples and reference DNA. Recently, we confirmed the reliability of the results obtained by our method using quantification of amplicons with an Agilent 2100 Bioanalyzer [16]. In the present study, the distributions of CNVs present in the genes encoding DNases 1L3 and II in Japanese and German populations were examined using the Q-PCR method, in which the common regions covering all of the CNVs leading to alterations in the in vivo activity levels of DNases 1L3 were chosen as targets for amplification.…”

Section: Introductionsupporting

confidence: 70%

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

et al. 2019

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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.

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Section: Introductionsupporting

confidence: 70%