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。
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