McGarry R C, Walker R, Roder J C
Immunogenetics. 1984;20(5):527-34. doi: 10.1007/BF00364355.
The functional activity of natural killer (NK) cells has been found to be modulated by several point mutations associated with coat color. The most commonly studied gene, beige (Bg), has been found to block a postrecognition event in the lytic cycle. Four other coat color mutations in the mouse (satin, leaden, fuzzy, pale ears) were studied for their effect on NK cell function, and only one, satin (Sa), was found to be suppressive. When both the Sa and Bg mutations were present in the same animal, their effects were synergistic in the suppression of NK levels. Normal numbers of NK cells were present in these double mutants, as determined by the frequency of IgG2b binding cells and by antiasialo GM1 staining. The ability of Sa/Bg NK cells to recognize and bind targets suggests that the defect is localized in the postbinding cytolytic pathway. These genes were not specific for NK cells and also suppressed alloimmune cytolytic T lymphocyte function. Since Sa/Bg mice are much more suppressed in NK function than Bg mice, we suggest that this double mutant may be a better model for NK deficiency in vivo.
自然杀伤（NK）细胞的功能活性已被发现会受到与毛色相关的多个点突变的调节。研究最广泛的基因——米色（Bg）基因，已被发现会阻断裂解周期中的一个识别后事件。对小鼠的其他四个毛色突变（缎毛、铅灰、蓬松、淡耳）对NK细胞功能的影响进行了研究，结果发现只有一个突变——缎毛（Sa）具有抑制作用。当同一只动物同时存在Sa和Bg突变时，它们对NK细胞水平的抑制作用具有协同效应。通过IgG2b结合细胞的频率和抗唾液酸GM1染色确定，这些双突变体中NK细胞数量正常。Sa/Bg NK细胞识别和结合靶标的能力表明，缺陷定位于结合后溶细胞途径。这些基因并非NK细胞所特有，它们也会抑制同种异体免疫溶细胞性T淋巴细胞的功能。由于Sa/Bg小鼠的NK功能比Bg小鼠受到的抑制要大得多，因此我们认为这种双突变体可能是体内NK细胞缺陷的一个更好模型。
