G3 (Bethesda). 2012 Feb;2(2):203-11. doi: 10.1534/g3.111.001602. Epub 2012 Feb 1.
Mouse models play a crucial role in the study of human behavioral traits and diseases. Variation of gene expression in brain may play a critical role in behavioral phenotypes, and thus it is of great importance to understand regulation of transcription in mouse brain. In this study, we analyzed the role of two important factors influencing steady-state transcriptional variation in mouse brain. First we considered the effect of assessing whole brain vs. discrete regions of the brain. Second, we investigated the genetic basis of strain effects on gene expression. We examined the transcriptome of three brain regions using Affymetrix expression arrays: whole brain, forebrain, and hindbrain in adult mice from two common inbred strains (C57BL/6J vs. NOD/ShiLtJ) with eight replicates for each brain region and strain combination. We observed significant differences between the transcriptomes of forebrain and hindbrain. In contrast, the transcriptomes of whole brain and forebrain were very similar. Using 4.3 million single-nucleotide polymorphisms identified through whole-genome sequencing of C57BL/6J and NOD/ShiLtJ strains, we investigated the relationship between strain effect in gene expression and DNA sequence similarity. We found that cis-regulatory effects play an important role in gene expression differences between strains and that the cis-regulatory elements are more often located in 5' and/or 3' transcript boundaries, with no apparent preference on either 5' or 3' ends.
鼠模型在人类行为特征和疾病的研究中起着至关重要的作用。脑内基因表达的变化可能在行为表型中起着关键作用,因此,了解小鼠脑内转录的调控是非常重要的。在这项研究中,我们分析了影响小鼠脑内转录稳态变化的两个重要因素的作用。首先,我们考虑了评估整个大脑与大脑离散区域的效果。其次,我们研究了遗传背景对基因表达的影响。我们使用 Affymetrix 表达谱芯片分析了三个大脑区域的转录组:成年小鼠的整个大脑、前脑和后脑,每个大脑区域和遗传背景组合有 8 个重复。我们观察到前脑和后脑之间的转录组存在显著差异。相比之下,整个大脑和前脑的转录组非常相似。利用通过对 C57BL/6J 和 NOD/ShiLtJ 株进行全基因组测序确定的 430 万个单核苷酸多态性,我们研究了基因表达中遗传背景效应与 DNA 序列相似性之间的关系。我们发现,顺式调控作用在株间基因表达差异中起着重要作用,顺式调控元件更常位于 5'和/或 3'转录边界,在 5'或 3'端没有明显的偏好。