Identification and characterization of extrachromosomal circular DNA in patients with high myopia and cataract
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TL;DR: In this article , the presence of extrachromosomal circular DNA (eccDNA) in the anterior capsule of the lens in the eyes of patients with cataract and with high myopia was explored.
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Abstract: To explore the presence of extrachromosomal circular DNA (eccDNA) in the anterior capsule of the lens in the eyes of patients with cataract and with high myopia. Circle-Seq was performed to identify differences in the eccDNA and gene expression between the anterior capsule of the lens of patients with simple nuclear cataract (C, n = 6 cases) and patients with nuclear cataract along with high myopia (HM, n = 6 cases). The expression of eccDNA was confirmed using routine quantitative polymerase chain reaction. The eccDNA ranked in C and HM ranged in length from 0.017 kb − 9.9 Mb with two distinctive peaks detected at 0.2 kb and 0.5 kb, while eccDNA that were differentially expressed ranged in size from 0.05 kb − 57.8 kb with two distinctive peaks observed at 0.1 kb and 0.5 kb. Only 2.5% of the eccDNA in C and 2% in HM were>25 kb in size. The gene-rich chromosomes contributed to more number of eccDNA/Mb, while several well-known high myopia candidate genes, including catenin delta 2 (CTNND2) and ubiquitin-like with PHD, exhibited significantly increased levels of eccDNA in the anterior capsule of the lens in patients with high myopia. This study highlighted the topologic analysis of the anterior capsule of eyes with high myopia, which is an emerging direction for research and clinical applications. These findings suggested that eccDNA was commonly detected in eyes with high myopia and cataracts, and the candidate genes for high myopia identified in previous studies were also observed in the eccDNA.
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Citations
Deciphering the role of extrachromosomal circular DNA in adipose stem cells from old and young donors
Sen Ren,Du Wu,Xiaoyong Shen,Qian Wu,Chengcheng Li,Hewei Xiong,Zhongwei Xiong,Rui Gong,Zheng Liu,Wei Wang,Jincao Chen +10 more
TL;DR: This study elucidated the first eccDNA profile relating to ASCs and demonstrated that three eccDNAs are lost in aged ASCs, which may be potential biomarkers of stem cell aging and valuable targets for stem cell rejuvenation.
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Maria De Piano,Andrea Cacciamani,Bijorn Omar Balzamino,Fabio Scarinci,Pamela Cosimi,Concetta Cafiero,Guido Ripandelli,Alessandra Micera +7 more
TL;DR: Findings provide a strong link between the AH protein signature and the EMT phenotype, and the highly myopic AH profile might be a potential candidate for rating anterior chamber inflammation and predicting retinal distress at the time of cataract surgery.
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Identification and characterization of extrachromosomal circular <scp>DNA</scp> in large‐artery atherosclerotic stroke
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A comprehensive analysis of library preparation methods shows high heterogeneity of extrachromosomal circular DNA but distinct chromosomal amount levels reflecting different cell states
Wenxiang Lu,Fuyu Li,Yunfei Ouyang,Yali Jiang,Weizhong Zhang,Yunfei Bai +5 more
TL;DR: This study comprehensively compares and discusses various essential approaches for eccDNA library preparation, offering valuable insights and practical advice to researchers involved in characterizing eccDNA.
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<i>PAX6</i> gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy
Danjie Jiang,Shengnan Lin,Qinghai Gong,Hong Jiang,Jinghui Wang,Hua Gao,Yanbo Guo,Tao Feng,Yan Zhang +8 more
TL;DR: PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents, with a potential role in the onset and progression of the disease.
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An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.
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Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
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