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Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.
Journal of the Optical Society of America A ( IF 1.4 ) Pub Date : 2020-04-01 , DOI: 10.1364/josaa.381919
Maureen Neitz , Elise D. Krekling , Lene A. Hagen , Hilde R. Pedersen , Jessica Rowlan , Rachel Barborek , Jay Neitz , Adam Crain , Rigmor C. Baraas

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.

中文翻译:

Tritan色觉障碍可能与OPN1SW剪接缺陷和单倍体功能不足有关。

在这里,我们提供证据表明RNA剪接破坏是继承的tritan色觉的潜在原因。最初,我们测试了51位受试者的色觉缺陷。一个犯了重大的Tritan错误;其他被归类为正常三色性。推定的tritan受试者是51个受试者中唯一发现的OPN1SW基因突变杂合子,该突变会破坏体外测定中的RNA剪接。为了进一步了解剪接突变在tritan彩色视觉中的作用,对假定的tritan对象的母亲和姐姐进行了检查。他们还犯了Tritan错误,并具有相同的OPN1SW基因突变。
更新日期:2020-02-13
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