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In this article, the author reviews the current understanding of the genetic basis for Down syndrome phenotypes, including congenital heart defects, Alzheimer disease and leukaemia. The potential for Down syndrome therapies is discussed in light of recent progress in the field.
Next-generation sequencing approaches have yielded new insights into circadian function. Here, Takahashi reviews genome-wide analyses of the clock transcriptional feedback loop in mammals, which reveal a global circadian regulation of transcription factor occupancy, RNA polymerase II recruitment and initiation, nascent transcription and chromatin remodelling.
In this article, the authors review the mechanisms by which the pluripotency gene regulatory network governs the acquisition, maintenance and dissolution of the pluripotent state, including the interaction of these networks with chromatin-mediated and RNA-mediated regulatory mechanisms. They discuss recent evidence for alternative pluripotency states and the factors that affect transitions between these states.
During the cell cycle, the centromeres of chromosomes have important roles and face key challenges, such as mediating successful chromosome segregation during mitosis and faithfully propagating their chromatin state to daughter chromosomes during S phase. This Review describes cell cycle-related features of centromeres, focusing on the nature and dynamics of centromeric chromatin, how it is intricately regulated and the potential implications for disease when these processes are disrupted.
