Zuniga Aimée
Developmental Genetics, DKBW Centre for Biomedicine, University of Basel Medical School, Mattenstrasse 28, CH-4058 Basel, Switzerland.
Curr Opin Genet Dev. 2005 Aug;15(4):403-9. doi: 10.1016/j.gde.2005.06.011.
Analysis of key regulators of vertebrate limb development has revealed that the cis-regulatory regions controlling their expression are often located several hundred kilobases upstream of the transcription units. These far up- or down-stream cis-regulatory regions tend to reside within rather large, functionally and structurally unrelated genes. Molecular analysis is beginning to reveal the complexity of these large genomic landscapes, which control the co-expression of clusters of diverse genes by this novel type of long-range and globally acting cis-regulatory region. An increasing number of spontaneous mutations in vertebrates, including humans, are being discovered inactivating or altering such global control regions. Thereby, the functions of a seemingly distant but essential gene are disrupted rather than the closest.
对脊椎动物肢体发育关键调控因子的分析表明，控制其表达的顺式调控区域通常位于转录单元上游数百千碱基处。这些位于极上游或下游的顺式调控区域往往存在于相当大的、功能和结构上无关的基因内部。分子分析开始揭示这些大型基因组区域的复杂性，它们通过这种新型的长程且全局作用的顺式调控区域控制不同基因簇的共表达。在包括人类在内的脊椎动物中，越来越多的自发突变被发现会使此类全局控制区域失活或改变。由此，一个看似遥远但至关重要的基因的功能被破坏，而不是最接近的基因。
