Davuluri Ramana V, Suzuki Yutaka, Sugano Sumio, Plass Christoph, Huang Tim H-M
Human Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular Virology, Immunology, and Medical Genetics, The Ohio State University, Columbus, OH 43210, USA.
Trends Genet. 2008 Apr;24(4):167-77. doi: 10.1016/j.tig.2008.01.008. Epub 2008 Mar 7.
We are beginning to appreciate the increasing complexity of mammalian gene structure. A phenomenon that adds an important dimension to this complexity is the use of alternative gene promoters that drive widespread cell type, tissue type or developmental gene regulation. Recent annotations of the human genome suggest that almost one half of the protein-coding genes contain alternative promoters, including those of many disease-associated genes. Aberrant use of one promoter over another has been found to be associated with various diseases, including cancer. Here we discuss the functional consequences of use and misuse of alternative promoters in normal and disease genomes and review the molecular mechanisms regulating alternative promoter use in mammalian genomes.
我们开始认识到哺乳动物基因结构日益复杂。一种为这种复杂性增添重要维度的现象是使用替代基因启动子，这些启动子驱动广泛的细胞类型、组织类型或发育基因调控。人类基因组的最新注释表明，几乎一半的蛋白质编码基因含有替代启动子，包括许多与疾病相关基因的启动子。已发现一种启动子相对于另一种启动子的异常使用与包括癌症在内的各种疾病有关。在这里，我们讨论了正常和疾病基因组中替代启动子使用和误用的功能后果，并综述了调控哺乳动物基因组中替代启动子使用的分子机制。
