跨膜蛋白26在视网膜中的特异表达及其与原发性开角型青光眼的关系  

Specific expression of transmembrane protein 26 in retina and its association with primary open-angle glaucoma

作　　者：尹燚 冒瑶 杨正林 黄璐琳 Yin Yi;Mao Yao;Yang Zhenglin;Huang Lulin(School of Medicine,University of Electronic Science and Technology of China,Department of Medical Genetics,Sichuan Academy of Medical Sciences&Sichuan Provincial People's Hospital,Sichuan Provincial Key Laboratory for Human Disease Gene Study,Chengdu 610072,China)

机构地区：[1]电子科技大学医学院,四川省人民医院医学检验中心,人类疾病基因研究四川省重点实验室,成都610072

出　　处：《中华实验眼科杂志》2022年第4期303-309,共7页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金项目(81970839,81670895);四川省科技厅项目(2021YFS0033)。

摘　　要：目的预测跨膜蛋白26(TMEM26)的跨膜结构,观察该蛋白在人和小鼠视网膜中的表达情况,并探讨其与原发性开角型青光眼(POAG)的关系。方法将人和小鼠TMEM26的氨基酸序列输入跨膜蛋白结构预测软件(MemBrain)预测该蛋白的跨膜结构;选取SPF级21周龄C57BL/6小鼠5只及遗体捐赠人眼球1个,制作视网膜冰冻切片;采用免疫组织化学法观察TMEM26在人和小鼠视网膜中的表达及定位;结合TMEM26在视网膜的特异表达情况推测该基因可能的功能及其对眼的影响;在与TMEM26相关眼病的文献中检索该基因单核苷酸多态性(SNP)变异情况。结果预测人和小鼠的TMEM26均为8次跨膜蛋白,具有相似的8个疏水性跨膜结构域、4个亲水胞质结构域和5个亲水胞膜外区结构域,2种TMEM26的结构域氨基酸残基数目存在细微差别;且在人和小鼠的视网膜中,TMEM26蛋白均仅在外丛状层(OPL)和内丛状层(IPL)特异表达;全基因组关联分析数据提示TMEM26与POAG呈弱相关。结论TMEM26为多次跨膜蛋白,主要在视网膜的IPL和OPL表达,该基因与POAG呈弱相关。Objective To predict the transmembrane structure of transmembrane protein 26(TMEM26),observe its expression in human retina and mouse retina,and investigate the relationship between it and primary open-angle glaucoma(POAG).Methods The transmembrane structure of TMEM26 in human and mouse was obtained by inputting its amino acid sequences into the transmembrane protein structure prediction software,MemBrain.The expression and location of TMEM26 in human and mouse retinas were observed through frozen retinal sections stained with anti-TMEM26 antibody,which came from a human donor and five SPF-grade C57BL/6 mice.The possible function of TMEM26 gene and its influence on eyes were inferred on the basis of the specific expression of TMEM26 in retina.The single nucleotide polymorphism mutation of TMEM26 gene was searched in literature related to ocular diseases.The use and care of animals complied with the Regulations on the Management of Experimental Animals.This research protocol was approved by an Ethics Committee of Sichuan Provincial People's Hospital(No.2019-36).Results Both human and mouse TMEM26 were eight transmembrane proteins with similar eight hydrophobic transmembrane domains,four hydrophilic cytoplasmic domains and five hydrophilic extracellular membrane domains.Small differences in the number of amino acid residues in the domains of TMEM26 were found.In both human and mouse retina,TMEM26 gene was only specifically expressed in the outer plexiform layer(OPL)and inner plexiform layer(IPL).TMEM26 was weakly associated with POAG in a published data.Conclusions TMEM26 is a multi-pass transmembrane protein,mainly expressed in IPL and OPL of the retina.TMEM26 gene is weakly related to POAG.

关 键 词：人跨膜蛋白26 小鼠跨膜蛋白26 蛋白跨膜结构 视网膜 内丛状层 外丛状层 原发性开角型青光眼 

分 类 号：R775.2[医药卫生—眼科]