三原色视觉缺陷可能与 OPN1SW 剪接缺陷和杂合性不足有关。
Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.
出版信息
J Opt Soc Am A Opt Image Sci Vis. 2020 Apr 1;37(4):A26-A34. doi: 10.1364/JOSAA.381919.
Abstract
Here we present evidence implicating disrupted RNA splicing as a potential cause of inherited tritan color vision. Initially we tested 51 subjects for color vision deficiencies. One made significant tritan errors; the others were classified as normal trichromats. The putative tritan subject was the only one of the 51 subjects found to be heterozygous for an OPN1SW gene mutation that disrupts RNA splicing in an in vitro assay. In order to gather further support for the role of the splicing mutation in tritan color vision, the putative tritan subject's mother and sister were examined. They also made tritan errors and had the same OPN1SW gene mutation.
摘要
在这里，我们提出证据表明 RNA 剪接异常可能是遗传性三原色视觉异常的潜在原因。最初，我们对 51 名受试者进行了色觉缺陷测试。其中一人出现显著的三原色错误，其他人被归类为正常三原色。在 51 名受试者中，唯一的杂合 OPN1SW 基因突变的个体在体外试验中破坏了 RNA 剪接，该个体被认为是潜在的三原色患者。为了进一步支持剪接突变在三原色色觉中的作用，我们检查了潜在的三原色患者的母亲和妹妹。她们也出现了三原色错误，并且具有相同的 OPN1SW 基因突变。
相似文献
1
Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.三原色视觉缺陷可能与 OPN1SW 剪接缺陷和杂合性不足有关。
J Opt Soc Am A Opt Image Sci Vis. 2020 Apr 1;37(4):A26-A34. doi: 10.1364/JOSAA.381919.
2
A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect.与蓝色色盲缺陷相关的短波敏感视锥色素基因中的一种新突变。
Vis Neurosci. 2006 May-Aug;23(3-4):403-9. doi: 10.1017/S0952523806233169.
3
Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.在S-视蛋白第190位的苏氨酸被异亮氨酸取代会导致S-视锥功能异常。
Vision Res. 2012 Nov 15;73:1-9. doi: 10.1016/j.visres.2012.09.007. Epub 2012 Sep 26.
4
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency.自适应光学视网膜成像揭示了蓝黄色觉异常中的S-视锥细胞营养不良。
J Opt Soc Am A Opt Image Sci Vis. 2007 May;24(5):1438-47. doi: 10.1364/josaa.24.001438.
5
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).一种新型隐性PDE6C突变（p.E591K）导致的先天性全色盲和黄斑萎缩
Ophthalmic Genet. 2015 Jun;36(2):137-44. doi: 10.3109/13816810.2014.991932. Epub 2015 Jan 21.
6
Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.外显子 3 中的 cone opsin mRNA 的独特单倍型影响其前体的剪接，导致先天性色觉缺陷。
Biochem Biophys Res Commun. 2012 Jul 20;424(1):152-7. doi: 10.1016/j.bbrc.2012.06.094. Epub 2012 Jun 23.
7
Nocturnal light environments influence color vision and signatures of selection on the OPN1SW opsin gene in nocturnal lemurs.夜间光照环境影响色觉，并对夜间活动的狐猴的 OPN1SW 视蛋白基因产生选择信号。
Mol Biol Evol. 2013 Jun;30(6):1420-37. doi: 10.1093/molbev/mst058. Epub 2013 Mar 21.
8
A two-step method for identifying photopigment opsin and gene sequences underlying human color vision phenotypes.两步法鉴定人类色觉表型相关的光色素视蛋白基因序列。
Mol Vis. 2020 Mar 5;26:158-172. eCollection 2020.
9
Chromatic discrimination in fixed saturation levels from trichromats and subjects with congenital color vision deficiency.固定饱和度下的三原色觉者和先天性色觉缺陷者的色觉辨别。
Sci Rep. 2022 Apr 4;12(1):5603. doi: 10.1038/s41598-022-09531-z.
10
Blue cone function in a family with an inherited tritan defect, tested with electroretinography and psychophysics.在一个患有遗传性蓝色色盲缺陷的家族中，通过视网膜电图和心理物理学测试蓝锥细胞功能。
Invest Ophthalmol Vis Sci. 1978 May;17(5):436-41.
引用本文的文献
1
Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.色盲：色觉缺陷的机制与前沿治疗方法综合分析
Front Neurosci. 2024 Jan 17;18:1265630. doi: 10.3389/fnins.2024.1265630. eCollection 2024.
2
Interactions between genes altered during cardiotoxicity and neurotoxicity in zebrafish revealed using induced network modules analysis.使用诱导网络模块分析揭示斑马鱼心脏毒性和神经毒性过程中改变的基因之间的相互作用。
Sci Rep. 2023 Apr 17;13(1):6257. doi: 10.1038/s41598-023-33145-8.
3
Variability of Rayleigh and Moreland test results using anomaloscope in young adults without color vision disorders.在没有色觉障碍的年轻成年人中使用比色计测量瑞利和莫兰测试结果的变异性。
PLoS One. 2021 May 21;16(5):e0251903. doi: 10.1371/journal.pone.0251903. eCollection 2021.
本文引用的文献
1
midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.中胚基因揭示了所有报道的斯塔加特病中非规范剪接位点变异的完整剪接谱。
Genome Res. 2018 Jan;28(1):100-110. doi: 10.1101/gr.226621.117. Epub 2017 Nov 21.
2
Rules and tools to predict the splicing effects of exonic and intronic mutations.外显子和内含子突变的剪接效应预测规则和工具。
Wiley Interdiscip Rev RNA. 2018 Jan;9(1). doi: 10.1002/wrna.1451. Epub 2017 Sep 26.
3
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with / Opsin Interchange Mutations.双剪接和氨基酸编码在与视蛋白互换突变相关的近视、视锥细胞功能障碍和视锥细胞营养不良中的作用。
Transl Vis Sci Technol. 2017 May 10;6(3):2. doi: 10.1167/tvst.6.3.2. eCollection 2017 May.
4
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
5
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.光感受器祖细胞 mRNA 分析揭示 ABCA4 c.5461-10T→C 突变导致斯塔加特病中外显子跳跃。
Ophthalmology. 2016 Jun;123(6):1375-85. doi: 10.1016/j.ophtha.2016.01.053. Epub 2016 Mar 12.
6
Discrimination thresholds of normal and anomalous trichromats: Model of senescent changes in ocular media density on the Cambridge Colour Test.正常三色视者和异常三色视者的辨别阈值：剑桥色觉测试中眼内介质密度衰老变化模型
J Opt Soc Am A Opt Image Sci Vis. 2016 Mar;33(3):A65-76. doi: 10.1364/JOSAA.33.000A65.
7
Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.视紫红质基因中的无义突变会导致轻度表型，通过无义介导的衰变在人类细胞中引发mRNA降解。
Exp Eye Res. 2016 Apr;145:444-449. doi: 10.1016/j.exer.2015.09.013. Epub 2015 Sep 26.
8
The influence of L-opsin gene polymorphisms and neural ageing on spatio-chromatic contrast sensitivity in 20-71 year olds.L-视蛋白基因多态性和神经老化对20至71岁人群空间色对比敏感度的影响。
Vision Res. 2015 Nov;116(Pt A):13-24. doi: 10.1016/j.visres.2015.08.015. Epub 2015 Sep 26.
9
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.三种不同的视锥视蛋白基因阵列突变机制及其基因型-表型相关性和视锥视蛋白变体的功能研究。
Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679.
10
Variation of color discrimination across the life span.一生中颜色辨别能力的变化。
J Opt Soc Am A Opt Image Sci Vis. 2014 Apr 1;31(4):A375-84. doi: 10.1364/JOSAA.31.00A375.
Zotero 插件