TANDEM ARRAY OF HUMAN VISUAL PIGMENT GENES AT XQ28
TANDEM ARRAY OF HUMAN VISUAL PIGMENT GENES AT XQ28
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DOI：
10.1126/science.2837827
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发表时间：
1988-06-17
期刊：
影响因子：
56.9
通讯作者：
DAVIS, RW
中科院分区：
文献类型：
--
作者：
VOLLRATH, D;NATHANS, J;DAVIS, RW
已提出同源红色和绿色视觉色素基因的头尾串联阵列内的不等交换来解释观察到的个体间绿色色素基因数量的变化以及色盲受试者中红绿色融合基因的流行。通过使用远程物理绘图技术探测红色和绿色色素位点的结构来测试该模型。发现这些基因座构成了重复长度约为 39 kb 的基因阵列。红色素基因位于阵列 5 英寸边缘的位置解释了其拷贝数缺乏变化。四个基因数量不同的个体的限制性图谱与基因的头尾结构一致。这些结果提供了支持该模型的物理证据，并有助于解释人群中色盲的高发病率。
Unequal crossing-over within a head-to-tail tandem array of the homologous red and green visual pigment genes has been proposed to explain the observed variation in green-pigment gene number among individuals and the prevalence of red-green fusion genes among color-blind subjects. This model was tested by probing the structure of the red and green pigment loci with long-range physical mapping techniques. The loci were found to constitute a gene array with an approximately 39-kilobase repeat length. The position of the red pigment gene at the 5'' edge of the array explains its lack of variation in copy number. Restriction maps of the array in four individuals who differ in gene number are consistent with a head-to-tail configuration of the genes. These results provide physical evidence in support of the model and help to explain the high incidence of color blindness in the human population.