Showing papers in "Current Opinion in Genetics & Development in 2013"

TL;DR: This review describes the most recent advances in TOR signaling with a particular focus on mammalian TOR (mTOR) in metabolic tissues vis-a-vis aging, obesity, type 2 diabetes, and cancer.

TL;DR: How microRNA profiles are altered in cancer is discussed, highlighting their potential as sensitive biomarkers for cancer risk stratification, outcome prediction and classification of histological subtypes.

TL;DR: This work proposes a generalization to the classical population genetic treatment of pairwise epistasis that yields expressions for epistasis among arbitrary subsets of mutations of all orders, and demonstrates that higher-order epistasis is critically important in two systems the authors know best.

TL;DR: This review focuses on recent findings that have contributed to the understanding of higher order chromatin structure and genome organization within the nucleus and highlights new findings on the dynamic positioning of genes relative to each other, as well as to their chromosome territory and the nuclear lamina.

TL;DR: The level of mutagenesis associated with DNA synthesis in BIR is significantly higher than during normal replication, which makes BIR a likely pathway to promote bursts of genetic changes that fuel cancer progression and evolution.

TL;DR: The dynamic mechanisms by which the ECM can regulate stem cell differentiation to contribute to proper tissue morphogenesis are reviewed, using as examples Drosophila egg chamber development and cleft formation in epithelial organs.

TL;DR: The evidence for microRNA (miRNA) involvement in the radioresponse is summarized and specific miRNA-target pairs that affect response to radiation and DNA damage as good potential targets for modulating radioresponsitivity are discussed.

TL;DR: Current work is focused on mechanistic models of how ELAV/Hu proteins increase mRNA stability and translation by repressing microRNAs (miRs) and the RNA induced silencing complex (RISC) via ARE-based ribonucleosomes that may affect global functions of mRNA regulons.

TL;DR: How mutations may be treated as a perturbation of the molecular interaction network and what insights may be gained from taking this perspective are examined.

TL;DR: Findings in this review significantly increase mechanistic understanding of how the primary cilium facilitates Hh signal transduction and form the basis for further investigations to define the function of cilia in other signaling processes.

TL;DR: This work reviews how distinct genetic variants, the genotype, lead to distinct phenotypic outcomes, the phenotype, through edgetic perturbations in interactome networks altogether representing the 'edgotype', and explores specific loss or gain of interactions to interpret genotype-to-phenotype relationships.

TL;DR: These recent findings open exciting routes to understanding how the requirement to regulate DSBs along and between homologs is achieved.

TL;DR: Perhaps most striking has been the revelation that ASD mutations show tremendous phenotypic variability ranging from social disability to schizophrenia, intellectual disability, language impairment, epilepsy and typical development.

TL;DR: This view is supported by recent genome-wide studies showing that DNA replication profiles are shaped by genetic and epigenetic processes that act both at the local and global levels to regulate origin function in eukaryotic cells.

TL;DR: Recent advances in understanding the mechanisms underlying the pathologies of ribosomopathies are summarized and the relationship between ribosome production and tumorigenesis is discussed.

TL;DR: This review focuses on the contributions from studies in budding yeast toward unraveling the mechanisms and genetic control of repeat expansions, highlighting similarities and differences of replication models and describing a balancing act hypothesis to account for apparent discrepancies.

TL;DR: An update on recent studies that explore how nucleosome remodelers are recruited to DSBs and their impact on various steps of repair are examined, focusing on resection and the formation of the Rad51-ssDNA nucleofilament.

TL;DR: A review of a few recent and representative discoveries of 3'UTR-mediated translational control, emphasizing the novel aspects of these regulatory mechanisms and their potential pathophysiological significance.

TL;DR: Recent studies involving genome wide analyses, functional experiments and theoretical models that have begun to characterise the molecular logic by which neural cells interpret Shh signalling suggest that cell identity results from the combined input of Shh signaling, uniformly expressed neural factors and the cross-regulatory network of downstream Shh target genes.

TL;DR: The current understanding of the regulatory mechanisms of FGF signaling in extracellular spaces through HSPGs in mammalian development through syndecans, glypicans, and perlecan is presented.

TL;DR: Recent methods that use information in protein-protein and protein-DNA interaction networks to address two challenges in GWAS, including identification of causal variants for polygenic traits that are caused by variants in multiple genes within a pathway.

TL;DR: These studies support a model for how accessibility originates and then propagates throughout regulatory cascades and development, and suggest that CpG islands in mammals are inherently refractory to higher-order chromatin structure and remain accessible, despite favoring nucleosome formation in vitro.

TL;DR: Recent work from several groups has significantly advanced understanding of how piRNAs arise from discrete genomic loci, termed piRNA clusters, and how these Piwi-piRNA complexes enforce transposon silencing, and some aspects of piRNA biology that continue to escape understanding are highlighted.

TL;DR: The complexity of modifying factors of one of the most frequent autosomal recessively inherited disorders in humans, spinal muscular atrophy (SMA), is described and how this knowledge contributes to understanding of the regulatory networks and molecular pathology of SMA is outlined.

TL;DR: The profile of quantitative trait alleles has proven useful to reverse quantitative genetics approaches and supports the use of systems genetics approaches to synthesize the molecular basis of trait variation across multiple strains.

TL;DR: Recent studies indicate that epigenetic regulation of MyoD binding sites is another important mechanism for controlling Myo D activity, which may ultimately limit its ability to induce transdifferentiation to cells with permissive epigenetic 'landscapes.

TL;DR: The evolution of dosage compensation and how it is controlled during embryogenesis of mammals is discussed and the potential role of X chromosome number during early development is summarized.

TL;DR: Findings provide a framework for future studies and raise new questions regarding the events upstream and downstream of Nodal and BMP signalling during axis formation of the sea urchin embryo.

TL;DR: Two recent genome wide association studies in human have identified four new loci of interest: ZBTB38-RASA2 in UK CJD cases and MTMR7 and NPAS2 in variant CJD.

TL;DR: This finding provides new insight into the complex inheritance pattern and new clues to the molecular mechanisms underlying TAR syndrome as well as abnormal phenotypes associated with proximal and distal 1q21.1 microdeletion and microduplications with incomplete penetrance and variable expressivity.