Shang Bingzhen, Liu Tianyi, Hartwell Hadley, Douillet Christelle, Venkatratnam Abhishek, Qing Shi, Miller Madison, Zou Fei, Krupenko Sergey A, Ideraabdullah Folami Y, de Villena Fernando Pardo-Manuel, Fry Rebecca C, Stýblo Miroslav
Department of Nutrition, Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, CB# 7461, Chapel Hill, NC, 27599-7461, USA.
Department of Biostatistics, Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, CB#7420, Chapel Hill, NC, 27599-7420, USA.
Arch Toxicol. 2025 Jun 12. doi: 10.1007/s00204-025-04107-y.
Chronic exposure to inorganic arsenic (iAs) has been linked to diabetes, but the role of iAs exposure prior to conception and its transgenerational effects are understudied. Our recent study using C57BL/6 J mice found that exposure of both parents to 2 ppm iAs in drinking water prior to mating resulted in diabetic phenotypes in two consecutive generations of offspring, suggesting epigenetic inheritance. The goal of the present study was to determine if iAs exposure prior to conception was associated with heritable dysregulation of DNA methylation in parental (G0) germ cells and/or differential expression of diabetes-associated genes in G1 and G2 offspring. The Infinium Mouse Methylation BeadChip was employed to assess CpG methylation in G0 sperm and in G1 and G2 sperm, liver, and adipose tissue. DNA methylation in oocytes was assessed by whole-genome bisulfite sequencing. RNA sequencing was used to identify differentially expressed genes (DEGs). We found that the preconception iAs exposure significantly altered expression of genes in tissues of G1 and G2 offspring. Notably, 55% of DEGs in G1 male liver, 64% in G1 female liver, 42% in G2 male liver, 42% in G2 male adipose tissue, and 27% in G2 female adipose tissue contained differentially methylated CpG sites, including CpG sites that were also differentially methylated in G0 sperm. Many of these sites displayed the same direction of change in methylation, suggesting epigenetic inheritance. Some of the DEGs with differentially methylated CpG sites were identified in diabetes-associated pathways, including insulin signaling pathway, glucose transmembrane transport, and miRNA targeting of PI3K-Akt signaling pathway. Thus, the iAs-induced transmissible changes in DNA methylation may underlie the diabetogenic phenotypes found in G1 and G2 offspring.
长期接触无机砷(iAs)与糖尿病有关,但受孕前iAs暴露的作用及其跨代影响尚未得到充分研究。我们最近使用C57BL / 6 J小鼠进行的研究发现,交配前双亲饮用含2 ppm iAs的水会导致连续两代后代出现糖尿病表型,提示存在表观遗传。本研究的目的是确定受孕前iAs暴露是否与亲代(G0)生殖细胞中DNA甲基化的遗传性失调和/或G1和G2代后代中糖尿病相关基因的差异表达有关。使用Infinium小鼠甲基化芯片评估G0精子、G1和G2精子、肝脏及脂肪组织中的CpG甲基化。通过全基因组亚硫酸氢盐测序评估卵母细胞中的DNA甲基化。利用RNA测序鉴定差异表达基因(DEG)。我们发现受孕前iAs暴露显著改变了G1和G2代后代组织中基因的表达。值得注意的是,G1代雄性肝脏中55%的DEG、G1代雌性肝脏中64%的DEG、G2代雄性肝脏中42%的DEG、G2代雄性脂肪组织中42%的DEG以及G2代雌性脂肪组织中27%的DEG含有差异甲基化的CpG位点,包括在G0精子中也存在差异甲基化的CpG位点。这些位点中的许多在甲基化变化方向上一致,提示存在表观遗传。一些具有差异甲基化CpG位点的DEG存在于糖尿病相关通路中,包括胰岛素信号通路、葡萄糖跨膜转运以及PI3K - Akt信号通路的miRNA靶向作用。因此,iAs诱导的DNA甲基化可传递变化可能是G1和G2代后代中致糖尿病表型的基础。