Fahey Marie E, Mills Walter, Higgins Desmond G, Moore Tom
Department of Biochemistry, Biosciences Institute, University College Cork, College Road, Cork, Ireland.
Comp Funct Genomics. 2004;5(8):572-83. doi: 10.1002/cfg.437.
Imprinted genes exhibit silencing of one of the parental alleles during embryonic development. In a previous study imprinted genes were found to have reduced intron content relative to a non-imprinted control set (Hurst et al., 1996). However, due to the small sample size, it was not possible to analyse the source of this effect. Here, we re-investigate this observation using larger datasets of imprinted and control (non-imprinted) genes that allow us to consider mouse and human, and maternally and paternally silenced, imprinted genes separately. We find that, in the human and mouse, there is reduced intron content in the maternally silenced imprinted genes relative to a non-imprinted control set. Among imprinted genes, a strong bias is also observed in the distribution of intronless genes, which are found exclusively in the maternally silenced dataset. The paternally silenced dataset in the human is not different to the control set; however, the mouse paternally silenced dataset has more introns than the control group. A direct comparison of mouse maternally and paternally silenced imprinted gene datasets shows that they differ significantly with respect to a variety of intron-related parameters. We discuss a variety of possible explanations for our observations.
印记基因在胚胎发育过程中表现出一个亲本等位基因的沉默。在之前的一项研究中,相对于非印记对照组,发现印记基因的内含子含量减少(赫斯特等人,1996年)。然而,由于样本量小,无法分析这种效应的来源。在这里,我们使用更大的印记基因和对照(非印记)基因数据集重新研究这一观察结果,这些数据集使我们能够分别考虑小鼠和人类,以及母源沉默和父源沉默的印记基因。我们发现,在人类和小鼠中,相对于非印记对照组,母源沉默的印记基因的内含子含量减少。在印记基因中,在无内含子基因的分布上也观察到强烈的偏向性,这些基因仅在母源沉默的数据集中发现。人类中父源沉默的数据集与对照组没有差异;然而,小鼠父源沉默的数据集比对照组有更多的内含子。对小鼠母源和父源沉默的印记基因数据集的直接比较表明,它们在各种与内含子相关的参数方面存在显著差异。我们讨论了对我们观察结果的各种可能解释。