返座嵌合体的范围在扩大。
Realm of revertant mosaicism expanding.
机构信息
Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
出版信息
J Invest Dermatol. 2012 Mar;132(3 Pt 1):514-6. doi: 10.1038/jid.2011.445.
In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.
在本期中，赖长祥和同事们报告了一例 Kindler 综合征患者出现回复性嵌合体现象：一块外观正常的皮肤归因于反向突变。回复性嵌合体的分子基础似乎是一个重复胞嘧啶的缺失，从而恢复了 FERMT1 转录本的阅读框。这一发现进一步推动了回复性嵌合体这一自发基因修复现象的前沿研究，这种现象在皮肤中可以肉眼观察到。
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