Brilliant M H, Gondo Y, Eicher E M
Institute of Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.
Science. 1991 Apr 26;252(5005):566-9. doi: 10.1126/science.1673574.
DNA sequences associated with the mouse pink-eyed unstable mutation were identified in the absence of closely linked molecular markers and without prior knowledge of the encoded gene product. This was accomplished by "genome scanning," a technique in which high-resolution Southern blots of genomic DNAs were hybridized to a dispersed and moderately repetitive DNA sequence. In this assay, pink-eyed unstable DNA was distinguished from the DNA of wild-type and revertant mice by enhanced hybridization to one of several hundred resolved fragments. The fragment showing enhanced hybridization in pink-eyed unstable DNA was cloned and found to lie within a DNA duplication that is located close to, or within, the pink-eyed dilution locus. The duplication associated with the mouse pink-eyed unstable mutation may mediate the high reversion frequency characteristic of this mutation.
在没有紧密连锁分子标记且对编码的基因产物一无所知的情况下，鉴定出了与小鼠粉红眼不稳定突变相关的DNA序列。这是通过“基因组扫描”完成的，该技术是将基因组DNA的高分辨率Southern杂交印迹与分散且中度重复的DNA序列进行杂交。在该检测中，通过与数百个解析片段之一的增强杂交，将粉红眼不稳定DNA与野生型和回复小鼠的DNA区分开来。在粉红眼不稳定DNA中显示出增强杂交的片段被克隆，并发现位于靠近或位于粉红眼稀释位点内的DNA重复序列中。与小鼠粉红眼不稳定突变相关的重复序列可能介导了该突变的高回复频率特性。
