Ludwig Institute for Cancer Research, 9500 Gilman Drive, La Jolla, California 92093-0653, USA.
Nature. 2012 Aug 2;488(7409):116-20. doi: 10.1038/nature11243.
The laboratory mouse is the most widely used mammalian model organism in biomedical research. The 2.6 × 10(9) bases of the mouse genome possess a high degree of conservation with the human genome, so a thorough annotation of the mouse genome will be of significant value to understanding the function of the human genome. So far, most of the functional sequences in the mouse genome have yet to be found, and the cis-regulatory sequences in particular are still poorly annotated. Comparative genomics has been a powerful tool for the discovery of these sequences, but on its own it cannot resolve their temporal and spatial functions. Recently, ChIP-Seq has been developed to identify cis-regulatory elements in the genomes of several organisms including humans, Drosophila melanogaster and Caenorhabditis elegans. Here we apply the same experimental approach to a diverse set of 19 tissues and cell types in the mouse to produce a map of nearly 300,000 murine cis-regulatory sequences. The annotated sequences add up to 11% of the mouse genome, and include more than 70% of conserved non-coding sequences. We define tissue-specific enhancers and identify potential transcription factors regulating gene expression in each tissue or cell type. Finally, we show that much of the mouse genome is organized into domains of coordinately regulated enhancers and promoters. Our results provide a resource for the annotation of functional elements in the mammalian genome and for the study of mechanisms regulating tissue-specific gene expression.
实验室小鼠是生物医学研究中使用最广泛的哺乳动物模式生物。小鼠基因组的 26 亿个碱基对与人类基因组具有高度的同源性,因此对小鼠基因组进行全面注释将对理解人类基因组的功能具有重要意义。到目前为止,小鼠基因组中的大多数功能序列尚未被发现,特别是顺式调控序列的注释还很差。比较基因组学是发现这些序列的有力工具,但单凭它本身并不能确定它们的时空功能。最近,ChIP-Seq 已被开发用于鉴定人类、黑腹果蝇和秀丽隐杆线虫等几种生物的基因组中的顺式调控元件。在这里,我们将相同的实验方法应用于小鼠的 19 种不同组织和细胞类型,生成了近 30 万个小鼠顺式调控序列的图谱。注释序列加起来占小鼠基因组的 11%,包括超过 70%的保守非编码序列。我们定义了组织特异性增强子,并确定了在每种组织或细胞类型中调节基因表达的潜在转录因子。最后,我们表明,小鼠基因组的大部分组织被协调调控的增强子和启动子组成的结构域所组织。我们的研究结果为哺乳动物基因组中功能元件的注释以及研究调节组织特异性基因表达的机制提供了资源。