Volume 17 Issue 10, October 2016

In early germline development, extra-embryonic signals trigger a regulatory network that induces the specification and subsequent epigenetic reprogramming of primordial germ cells, the precursors of sperm and eggs. Here, the authors review germline specification and reprogramming in humans, and discuss the crucial mechanistic differences between these processes in humans and mice.

Numerous long non-coding RNAs (lncRNAs) have emerged as having important and mechanistically diverse roles in gene regulation. However, for most lncRNAs, evolution is rapid and functions remain uncharacterized. This Review describes how comparative genomics and transcriptomics can provide broad insights into the functional importance and evolutionary trajectories of lncRNAs across species, and offers guidance for cross-species studies of lncRNAs.

Dynamic network models are useful tools for studying complex disease progression. Here, the authors define and review the concepts of pleiotropy, robustness and rewiring, and highlight the importance of considering them jointly and in relation to disease co-occurrences in an individual.

Recent drug discovery efforts in cancer have focused on epigenetic marks, such as DNA methylation and histone modifications. The authors discuss existing therapeutics that target the cancer epigenome, the role of epigenetic marks as biomarkers of drug response and emerging strategies that combine epigenetic drugs with other cancer therapies.

This Timeline article reviews the evolution of both prenatal and pre-implantation genetic testing, from their historic origins to ongoing development and implementation of tools for genome-wide single-cell and cell-free fetal DNA analysis. Future developments and some of the ethical issues that arise from these new technologies are also discussed.