Ludwig Institute for Cancer Research, Box 240, 171 77 Stockholm, Sweden.
Science. 2014 Jan 10;343(6167):193-6. doi: 10.1126/science.1245316.
Expression from both alleles is generally observed in analyses of diploid cell populations, but studies addressing allelic expression patterns genome-wide in single cells are lacking. Here, we present global analyses of allelic expression across individual cells of mouse preimplantation embryos of mixed background (CAST/EiJ × C57BL/6J). We discovered abundant (12 to 24%) monoallelic expression of autosomal genes and that expression of the two alleles occurs independently. The monoallelic expression appeared random and dynamic because there was considerable variation among closely related embryonic cells. Similar patterns of monoallelic expression were observed in mature cells. Our allelic expression analysis also demonstrates the de novo inactivation of the paternal X chromosome. We conclude that independent and stochastic allelic transcription generates abundant random monoallelic expression in the mammalian cell.
在分析二倍体细胞群体时,通常可以观察到两个等位基因的表达,但在单细胞中对全基因组等位基因表达模式的研究还很缺乏。在这里,我们对来自混合背景(CAST/EiJ×C57BL/6J)的小鼠胚胎植入前单个细胞的等位基因表达进行了全面分析。我们发现常染色体基因存在丰富的(12%至 24%)单等位基因表达,并且两个等位基因的表达是独立的。单等位基因表达似乎是随机和动态的,因为在密切相关的胚胎细胞之间存在相当大的变异。在成熟细胞中也观察到类似的单等位基因表达模式。我们的等位基因表达分析还表明父本 X 染色体的从头失活。我们的结论是,独立和随机的等位基因转录在哺乳动物细胞中产生丰富的随机单等位基因表达。