Department of Genetics, Hebei Medical University, Hebei Key Lab of Laboratory Animal, Shijiazhuang, Hebei Province, China.
Department of Ultrasound, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.
Ocul Immunol Inflamm. 2023 Nov;31(9):1848-1858. doi: 10.1080/09273948.2022.2112238. Epub 2022 Aug 30.
Short interspersed nuclear elements (SINEs) and long interspersed nuclear elements (LINE-1s) are the abundant and well-characterized repetitive elements in the human genome.
For this review, all relevant original research studies were assessed by searching electronic databases, including PubMed, Google Scholar, and Web of Science, by using relevant keywords. Accumulating evidence indicates that the disorder of gene expression regulated by these repetitive sequences is one of the causes of the diseases of visual system dysfunction, including retinal degenerations, glaucoma, retinitis punctata albescens, retinitis pigmentosa, geographic atrophy, and age-related macular degeneration, suggesting that SINEs and LINE-1s may have great potential implications in ophthalmology.
Alu elements belonging to the SINEs are present in more than one million copies, comprising 10% of the human genome.
This study offers recent advances in Alu and LINE-1 mechanisms in the development of eye diseases. The current study could advance our knowledge of the roles of SINEs and LINE-1s in the developing process of eye diseases, suggesting new diagnostic biomarkers, therapeutic strategies, and significant points for future studies.
短散在核元件（SINEs）和长散在核元件（LINE-1s）是人类基因组中丰富且特征明确的重复元件。
为了进行这项综述，通过使用相关的关键词在电子数据库（包括 PubMed、Google Scholar 和 Web of Science）中搜索，评估了所有相关的原始研究。越来越多的证据表明，这些重复序列调节的基因表达紊乱是视觉系统功能障碍疾病（包括视网膜变性、青光眼、白点状视网膜营养不良、色素性视网膜炎、地图状萎缩和年龄相关性黄斑变性）的原因之一，这表明 SINEs 和 LINE-1s 在眼科学中可能具有很大的潜在意义。
属于 SINEs 的 Alu 元件存在超过一百万份拷贝，占人类基因组的 10%。
本研究提供了 Alu 和 LINE-1 机制在眼部疾病发展中的最新进展。本研究可以增进我们对 SINEs 和 LINE-1 在眼部疾病发展过程中的作用的认识，为未来的研究提供新的诊断生物标志物、治疗策略和重要观点。
