Department of Medical & Molecular Genetics, King's College London, Guy's Hospital, London, United Kingdom.
PLoS One. 2011 Apr 20;6(4):e18953. doi: 10.1371/journal.pone.0018953.
Genomic imprinting is a form of gene dosage regulation in which a gene is expressed from only one of the alleles, in a manner dependent on the parent of origin. The mechanisms governing imprinted gene expression have been investigated in detail and have greatly contributed to our understanding of genome regulation in general. Both DNA sequence features, such as CpG islands, and epigenetic features, such as DNA methylation and non-coding RNAs, play important roles in achieving imprinted expression. However, the relative importance of these factors varies depending on the locus in question. Defining the minimal features that are absolutely required for imprinting would help us to understand how imprinting has evolved mechanistically. Imprinted retrogenes are a subset of imprinted loci that are relatively simple in their genomic organisation, being distinct from large imprinting clusters, and have the potential to be used as tools to address this question. Here, we compare the repeat element content of imprinted retrogene loci with non-imprinted controls that have a similar locus organisation. We observe no significant differences that are conserved between mouse and human, suggesting that the paucity of SINEs and relative abundance of LINEs at imprinted loci reported by others is not a sequence feature universally required for imprinting.
基因组印迹是一种基因剂量调控形式,其中一个等位基因仅从亲本来源中的一个等位基因表达。印迹基因表达的调控机制已被详细研究,并极大地促进了我们对基因组调控的一般理解。DNA 序列特征(如 CpG 岛)和表观遗传特征(如 DNA 甲基化和非编码 RNA)都在实现印迹表达方面发挥着重要作用。然而,这些因素的相对重要性取决于所讨论的基因座。定义印迹所必需的最小特征将有助于我们了解印迹是如何在机制上进化的。印迹反转录基因是印迹基因座的一个子集,其基因组组织相对简单,与大型印迹簇不同,并且有可能被用作解决这个问题的工具。在这里,我们比较了印迹反转录基因座的重复元件含量与具有相似基因座组织的非印迹对照。我们没有观察到在小鼠和人类之间保守的显著差异,这表明其他人报道的印迹基因座中 SINE 的缺乏和 LINE 的相对丰度不是印迹普遍需要的序列特征。