Department of Molecular Cell Biology, and Department of Computer Science and Applied Mathematics, Weizmann Institute of Science, Rehovot 76100, Israel.
Nat Rev Genet. 2014 Jul;15(7):453-68. doi: 10.1038/nrg3684. Epub 2014 Jun 10.
Instructions for when, where and to what level each gene should be expressed are encoded within regulatory sequences. The importance of motifs recognized by DNA-binding regulators has long been known, but their extensive characterization afforded by recent technologies only partly accounts for how regulatory instructions are encoded in the genome. Here, we review recent advances in our understanding of regulatory sequences that influence transcription and go beyond the description of motifs. We discuss how understanding different aspects of the sequence-encoded regulation can help to unravel the genotype-phenotype relationship, which would lead to a more accurate and mechanistic interpretation of personal genome sequences.
指导基因在何时、何地以及在何种水平表达的信息都被编码在调控序列中。DNA 结合调控因子识别的基序的重要性早已被认识，但是，最近的技术只能部分解释调控指令是如何被编码在基因组中的。在这里，我们回顾了近年来在转录调控序列理解方面的进展，这些进展超越了对基序的描述。我们讨论了如何理解序列编码调控的不同方面可以帮助揭示基因型-表型关系，这将导致对个人基因组序列进行更准确和更具机制性的解释。
