Transposable Elements and the Lines of Blaschko: A New Perspective
Transposable Elements and the Lines of Blaschko: A New Perspective
复制标题
转座因子和 Blaschko 系：新视角
作者：
R. Happle
背景资料：转座因子或逆转录转座子是逆转录病毒来源的颗粒，其大量散布在植物和动物的基因组中。它们可能通过甲基化或去甲基化影响相邻基因的活性，导致基因表达的沉默或激活。在动物如小鼠或狗中，逆转录转座子可以引起表型变异，其形式为杂色的被毛图案，使人想起在人类皮肤中观察到的Blaschko线。目的和方法：因为人类基因组同样含有大量的反转录转座子，可以想象这些元素可能会在人类皮肤中引起类似的皮肤病变。因此，对Blaschko品系的遗传性皮肤病组进行了筛选，以确定是否存在这种表观遗传起源。结果如下：炎性线状疣状表皮痣以及沿Blaschko线排列的色素镶嵌现象，都是可能的例子。这种表型通常零星发生，但可能会影响，作为例外，一个家庭的几个成员。结论：这些线性皮肤疾病可能会可视化的转座因子的行动，是部分表达和部分沉默在早期发育阶段。
Background: Transposable elements or retrotransposons are particles of retroviral origin that are interspersed in large numbers in the genome of plants and animals. They may affect the activity of adjacent genes by methylation or demethylation, resulting in silencing or activation of gene expression. In animals such as mice or dogs, retrotransposons may give rise to phenotypic variation in the form of variegated coat patterns reminiscent of the lines of Blaschko as observed in human skin. Objective and Methods: Because the human genome does likewise contain large amounts of retrotransposons, it is conceivable that these elements may cause similar skin lesions in human skin. The group of genodermatoses following the lines of Blaschko was therefore screened for phenotypes suggesting such an epigenetic origin. Results: As possible examples, the inflammatory linear verrucous epidermal nevus as well as cases of pigmentary mosaicism arranged in hypermelanotic or hypomelanotic streaks following the lines of Blaschko may be taken into consideration. Such phenotypes usually occur sporadically but may affect, by way of exception, several members of a family. Conclusion: These linear skin disorders would possibly visualize the action of a transposable element that is partly expressed and partly silenced at an early developmental stage.
刺豚鼠基因座携带高变黄色（Ahvy）突变的小鼠多效性表型的分子基础。
影响因子：
3.3
作者：
Argeson,AC;Nelson,KK;Siracusa,LD
通讯作者：
Siracusa,LD