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遗传性色觉缺陷携带者中的瑞利匹配:第三种L/M光色素的贡献。

Rayleigh matches in carriers of inherited color vision defects: the contribution from the third L/M photopigment.

作者信息

Sun Yang, Shevell Steven K

机构信息

Department of Psychology, University of Chicago, Chicago, Illinois, USA.

出版信息

Vis Neurosci. 2008 May-Jun;25(3):455-62. doi: 10.1017/S0952523808080346.

Abstract

The mother or daughter of a male with an X-chromosome-linked red/green color defect is an obligate carrier of the color deficient gene array. According to the Lyonization hypothesis, a female carrier's defective gene is expressed and thus carriers may have more than two types of pigments in the L/M photopigment range. An open question is how a carrier's third cone pigment in the L/M range affects the postreceptoral neural signals encoding color. Here, a model considered how the signal from the third pigment pools with signals from the normal's two pigments in the L/M range. Three alternative assumptions were considered for the signal from the third cone pigment: it pools with the signal from (1) L cones, (2) M cones, or (3) both types of cones. Spectral-sensitivity peak, optical density, and the relative number of each cone type were factors in the model. The model showed that differences in Rayleigh matches among carriers can be due to individual differences in the number of the third type of L/M cone, and the spectral sensitivity peak and optical density of the third L/M pigment; surprisingly, however, individual differences in the cone ratio of the other two cone types (one L and the other M) did not affect the match. The predicted matches were compared to Schmidt's (1934/1955) report of carriers' Rayleigh matches. For carriers of either protanomaly or deuteranomaly, these matches were not consistent with the signal from the third L/M pigment combining with only the signal from M cones. The matches could be accounted for by pooling the third-pigment's response with L-cone signals, either exclusively or randomly with M-cone responses as well.

摘要

患有X染色体连锁的红/绿色觉缺陷的男性的母亲或女儿是该色觉缺陷基因阵列的必然携带者。根据莱昂假说,女性携带者的缺陷基因会表达,因此携带者在L/M光色素范围内可能有两种以上类型的色素。一个悬而未决的问题是,携带者在L/M范围内的第三种视锥色素如何影响编码颜色的感受器后神经信号。在此,一个模型考虑了来自第三种色素池的信号与来自正常人在L/M范围内的两种色素的信号如何整合。对于来自第三种视锥色素的信号,考虑了三种替代假设:它与来自(1)L视锥、(2)M视锥或(3)两种视锥的信号整合。光谱敏感度峰值、光密度以及每种视锥类型的相对数量是该模型中的因素。该模型表明,携带者之间瑞利匹配的差异可能是由于第三种L/M视锥数量、第三种L/M色素的光谱敏感度峰值和光密度的个体差异;然而,令人惊讶的是,其他两种视锥类型(一个L和另一个M)的视锥比例的个体差异并不影响匹配。将预测的匹配结果与施密特(1934/1955)关于携带者瑞利匹配的报告进行了比较。对于原异常或绿色异常的携带者,这些匹配结果与仅与M视锥信号结合的第三种L/M色素的信号不一致。这些匹配结果可以通过将第三种色素的反应与L视锥信号整合来解释,要么完全与L视锥信号整合,要么也与M视锥反应随机整合。

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