Showing papers in "Current Opinion in Genetics & Development in 2012"

TL;DR: Recent reports that update the understanding of human L1 retrotransposons and their role in disease are highlighted and shed light on not just when, but where, retrotransposition occurs and its part in genetic variation.

TL;DR: Identification of ASD risk genes with high penetrance will broaden the targets amenable to genetic testing; while the biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.

TL;DR: Recent advances in the field of cancer epigenomics concerning DNA methylation, histone modifications, and miRNAs are described, which will be used to generate novel biomarkers of relevance to diagnosis, prognosis, and chemotherapeutic response.

TL;DR: Progress is described in explaining nonallelic homologous recombination (NAHR), a major cause of copy number change occurring when control of allelic recombination fails, the growing importance of replicative mechanisms to explain complex events, and progress in understanding extreme chromosome reorganization (chromothripsis).

TL;DR: This review will focus on contrasting results of functional and localization studies finding minimal combinatorial complexity in histone modification patterns, and possible ways to reconcile these conflicting views.

TL;DR: The emerging view begins to incorporate transcription activation by distant enhancers with large scale nuclear architecture and subnuclear movement.

TL;DR: Experiments using transgenes containing PcG binding sites reveal that co-localization depends on the presence of insulator elements rather than of Polycomb Response Elements (PREs) and that it can occur also when the trans genes are in the active state.

TL;DR: Progress in the plant small RNA field in the past two years is reviewed, with an emphasis on recent findings related to plant development.

TL;DR: This work explores how the combinatorial knowledge of allele quality and quantity, an improved understanding of the biological composition of the primary cilium, and the expanded appreciation of the subcellular roles of this organelle can be synthesized to generate improved models that can explain both causality but also variable penetrance and expressivity.

TL;DR: Polymer models provide a framework for the interpretation of experimental data as ensembles of conformations rather than collections of loops, and will be crucial for untangling functional implications of chromosomal organization as mentioned in this paper.

TL;DR: Recent genetic studies of stem cell-mediated homeostatic growth in the Drosophila midgut and the mouse small intestine are reviewed, highlighting similarities and differences in the mechanisms that control stem cell proliferation and differentiation.

TL;DR: These studies apply innovative technical approaches to gain insights into the molecular constituents, dynamical behaviour and organizational regulators of transcription factories, providing exciting insightsinto the spatial dimension of transcriptional control.

TL;DR: New evidence suggests that loss of FMRP causes presynaptic dysfunction and abnormal adult neurogenesis, and studies on FXS stem cells especially induced pluripotent stem (iPS) cells and new sequencing efforts hold out promise for deeper understanding of the silencing process and mutation spectrum of F MRP.

TL;DR: Reports do not support the hypothesis that a sequence signature alone could distinguish imprinted regions from the rest of the genome, and it is becoming clear that features such as transcription, histone modifications and higher order chromatin are employed either individually or in combination to set up parental imprints.

TL;DR: Current understanding of the differences between these pluripotent states in mice, new perspectives on the origins of naïve pluripotency in rodents, and recent attempts to apply the rodent paradigm to capture naïve plurippotent stem cells in human cells are outlined.

TL;DR: It is found that agents that perturb normal replication and create conditions of replication stress, including hydroxyurea and aphidicolin, are potent inducers of nonrecurrent CNVs in cultured human cells.

TL;DR: Recent developments in the field that have advanced the understanding of X chromosome inactivation and its regulatory mechanisms are discussed.

TL;DR: Recent developments in Turing models may underlie a variety of patterning or morphogenetic processes across a wide range of model systems are reviewed.

TL;DR: These findings have established that, in addition to coding for proteins, mRNAs also function as signaling molecules that modify chromatin structure by targeting heterochromatin assembly factors.

TL;DR: It is discussed how features of RA, together with feedback interactions among RA target genes, help enable RA to specify multiple, accurate pattern elements in the developing hindbrain, despite operating in an environment of high cellular and biochemical uncertainty and noise.

TL;DR: An overview of new evidence that has uncovered a wide range of functions for these sequences in addition to their two classical roles is provided.

TL;DR: The role of soluble matrix components as fundamental danger signals signifying tissue injury and on the design of new drugs targeting these danger ligands in inflammation, cancer, and fibrosis are focused on.

TL;DR: The contribution of the rostral domain of the NC to craniofacial skeletogenesis is discussed, with recent data show that cephalic NC cells regulate the activity of secondary brain organizers, hence being critical for preotic brain development.

TL;DR: The Drosophila blastoderm embryo is a classic model for the study of the genetics of pattern formation and its insights have led to insights into the establishment of morphogen gradients, the interpretation and transduction of positional information by downstream transcriptional networks, and the mechanisms by which spatial scaling and robustness of gene expression are achieved.

TL;DR: Recent progress as well as limitations in the use of iPSCs to recapitulate disease phenotypes and to screen for therapeutics in vitro are highlighted.

TL;DR: Recent advances in the understanding of the molecular mechanisms underlying the translation of clock information into the spatial patterning of segmental somites in mice are discussed and particular attention is paid to the interplay between two the distinct signaling pathways of Notch and FGF.

TL;DR: Conceptual ideas that might be used in a theoretical understanding of cell fate decision processes are discussed, emphasizing the challenges that biology poses to the application of statistical mechanics approaches to developmental biology.

TL;DR: For at least three of the polyQ disease considerable evidence is accumulating that pathology is mediated by a polyQ-induced exaggeration of a native function of the host protein.

TL;DR: General principles by which RNA organizes functionally different nuclear subcompartments in mammalian cells are outlined.

TL;DR: To unravel which molecular events determine the effective rates of morphogen gradients, tissue-level assays have been combined with genetic analysis, high-resolution assays, and models that take into account interactions with receptors, extracellular components and trafficking.