Department of Genetics and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT 06510, USA.
Curr Opin Genet Dev. 2009 Dec;19(6):557-64. doi: 10.1016/j.gde.2009.10.002. Epub 2009 Nov 11.
Changes in gene regulation have long been thought to underlie biological differences between humans and other primates. Recent advances have facilitated the study of human-specific sequence changes in regulatory DNAs in the context of human development. Comparative genomic analyses coupled with genome-wide in vivo developmental enhancer screens have identified thousands of known and likely regulatory elements in the genome. These have provided the substrate for statistical and experimental identification of regulatory sequences with human-specific developmental activities. On the basis of these early results, the outlines of an integrated strategy have emerged that combines gene expression atlases of human development, in vivo reverse genetic studies of regulatory DNAs, and maps of human-specific sequence change to reveal the genetic basis of unique human biology.
基因调控的变化长期以来被认为是人类和其他灵长类动物之间生物学差异的基础。最近的进展促进了在人类发育背景下研究调控 DNA 中的人类特异性序列变化。比较基因组分析加上全基因组体内发育增强子筛选已经确定了基因组中数千个已知和可能的调控元件。这些为统计和实验鉴定具有人类特异性发育活性的调控序列提供了基础。基于这些早期结果，出现了一种综合策略的轮廓，该策略结合了人类发育的基因表达图谱、调控 DNA 的体内反向遗传学研究以及人类特异性序列变化的图谱，以揭示独特的人类生物学的遗传基础。
