卡塔纳赫在小鼠体内植入白化位点的遗传活性。

M S Deol, G M Truslove, A McLaren
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摘要

Cattanach的插入(Is(In7;X)1Ct或XCt)包括白化位点(c+)的正常等位基因,该等位基因受到携带它的X染色体失活的影响,因此XCtX;Cc小鼠有白化斑和色素斑。X常染色体易位T(X;16)16H或XT16H导致雌性细胞中另一条X染色体优先失活,因此XCtXT16H;Cc小鼠几乎全是白色的。然而,它们随着年龄的增长而变黑,就好像c+等位基因失活的逆转发生在越来越多的黑素细胞中。为了测试这是否只与年龄有关,还是与动物蜕皮的次数有关,在休止期早期,当毛囊也被去除时,反复从选定的区域拔毛,假设皮肤该区域的黑素细胞或黑素母细胞将被迫进行进一步的分裂以定居在新的毛囊上。拔毛部位变黑的速度与被毛的其他部位相同,这表明失活的逐渐逆转只取决于年龄。由于直接检查卵泡中的黑色素细胞是困难的,因此在眼睛的脉络膜和视网膜色素上皮(RPE)中检查了黑色素细胞。脉络膜中色素细胞的频率低于RPE。由于这些结构中的黑素细胞在起源和物理特征上都不同,似乎细胞类型影响失活的逆转,或者影响X染色体延伸到白化病位点的频率。
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Genetic activity at the albino locus in Cattanach's insertion in the mouse.

Cattanach's insertion (Is(In7;X)1Ct or XCt) includes the normal allele at the albino locus (c+), which is subject to inactivation of the X chromosome carrying it, so that XCtX; cc mice have albino and pigmented patches. The X-autosome translocation T(X;16)16H or XT16H leads to preferential inactivation of the other X chromosome in female cells, so that XCtXT16H; cc mice are almost entirely white. However, they grow darker with age, as if reversal of inactivation of the c+ allele were taking place in increasing numbers of melanocytes. To test whether this is dependent only on age or whether it is related to the number of times the animal has moulted, hair was repeatedly plucked from selected areas at the early telogen stage when the follicles are also removed, assuming that the melanocytes or melanoblasts in that region of the skin would be forced to undergo further divisions to colonize the new follicles. The plucked areas grew darker at the same rate as the rest of the coat, suggesting that the progressive reversal of inactivation is dependent only on age. As direct examination of melanocytes in the follicles is difficult, they were examined in the choroid and the retinal pigment epithelium (RPE) of the eye. The frequency of the pigmented cells was lower in the choroid than in the RPE. Since the melanocytes in these structures are different in origin as well as in physical characteristics, it appears that cell type influences either reversal of inactivation, or the frequency with which the influence of the X chromosome extends to the albino locus.

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