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Showing papers in "Current Opinion in Genetics & Development in 2020"


Journal ArticleDOI
TL;DR: The evidence for and against the importance of 3D chromatin structure for gene regulation are reviewed and a more comprehensive classification of regulatory chromatin domains that integrates 3Dchrome structure with genomic, functional, and evolutionary conservation is argued.

59 citations


Journal ArticleDOI
TL;DR: The multifunctionality of this enigmatic polymerase is reviewed, focusing on its role during DSB repair in mammalian cells and its impact on cancer genomes.

48 citations


Journal ArticleDOI
TL;DR: Genetic, functional and structural studies have revealed that VPS13 acts at contact sites between intracellular organelles to transport lipids by a novel mechanism: direct transfer between bilayers via a hydrophobic channel that spans its entire rod-like N-terminal half.

41 citations


Journal ArticleDOI
TL;DR: Recent progress in the understanding of the functional specificity of cohesin-STAG1 and cohes in- STAG2 is summarized with particular emphasis on their contributions to genome organization and gene regulation.

40 citations


Journal ArticleDOI
TL;DR: How biophysical modelling can be instrumentally used to rationalize experimental studies of chromosome dynamics, and to probe the impact of putative mechanisms on genome folding kinetics during interphase is examined.

40 citations


Journal ArticleDOI
TL;DR: Recent advances in the understanding of the ALT mechanism are described and potential therapeutic targets that may offer future promise in the treatment of ALT cancers are highlighted.

38 citations


Journal ArticleDOI
TL;DR: What is currently known about mutation rates in primates is reviewed, the factors proposed to explain the variation across species are highlighted, and some implications of these findings on understanding of the chronology of primate evolution and the process of mutagenesis are discussed.

38 citations


Journal ArticleDOI
TL;DR: A PRC2-recruitment model was definitively overturned in the paradigm of XCI by Xist RNA, being replaced by a novel mechanism which puts PRC1 in the spotlight.

35 citations


Journal ArticleDOI
TL;DR: Despite their association with increased TERT levels, TPMs do not prohibit telomere shortening and TPM-harboring cancers present with short telomeres, which makes them an attractive target for future therapeutic exploitation of telomerase inhibition and telomerre deprotection-induced cell death.

35 citations


Journal ArticleDOI
TL;DR: The discovery and characterization of a network of highly conserved neuronal microexons have provided fundamental new insight into mechanisms underlying nervous system development and function, as well as an important basis for pathway convergence in autism spectrum disorder.

31 citations


Journal ArticleDOI
TL;DR: The biological and clinical impacts of TERT promoter hypermethylation in cancer are reviewed and insight into future applications of this phenomenon is provided.

Journal ArticleDOI
TL;DR: Circular RNAs are covalently closed single-stranded RNAs that can control neuronal function by acting as microRNA sponges and additional mechanisms to shape the pool of microRNAs and translation.

Journal ArticleDOI
TL;DR: Some of the potential mechanisms by which CTCFL-like and CTCF could alter gene regulation and contribute to oncogenic transcriptional programs are discussed.

Journal ArticleDOI
TL;DR: The mechanistic insights that suggest these frequently perturbed pathways are interconnected and, ultimately, converge on specific functional deficits in human neurodevelopment are probed.

Journal ArticleDOI
TL;DR: A new concept of 'repeat motif-phenotype correlation' is proposed, which argues for toxic gain-of-function mechanism caused by expanded repeats, rather than altered functions of genes harboring expanded repeats.

Journal ArticleDOI
TL;DR: A careful analysis of the beneficial roles of cellular senescence may provide insights into important physiological processes as well as informing strategies to counteract its detrimental consequences in ageing and disease.

Journal ArticleDOI
TL;DR: This review highlights the latest knowledge on the ontogeny of microglia, their developmental trajectory and emerging roles, and characterizing these processes will be critical for the authors' understanding of both brain physiology and pathologies.

Journal ArticleDOI
TL;DR: Activity of nuclear enzymes was found to drive the coherent chromatin dynamics, however, its biological nature and physical mechanism remain to be revealed.

Journal ArticleDOI
TL;DR: Recent work in those fields that have utilized the growing knowledge of disease risk genes and loci, identified by wide-scale genetic studies, and nervous system development and function to draw conclusions about the impact of human-specific aspects of evolution are outlined.

Journal ArticleDOI
TL;DR: Ch chromatin organization at intermediate scales of ∼2-10 nucleosomes is explored, from early views supporting a secondary structural element known as the 30nm fiber to more recent 'sea of nucleosome' models.

Journal ArticleDOI
TL;DR: It is argued that these ESC based methods are consistent with the program of experimental embryology, and discussed the insights that can be gained from this perspective, particularly focussing the process of gastrulation and the associated emergence of the body plan.

Journal ArticleDOI
TL;DR: Recent advances in epigenetic regulation of mouse preimplantation development are summarized, the remaining questions are pointed out, and strategies to tackle these questions are proposed.

Journal ArticleDOI
TL;DR: Recent studies using genetic animal models that advocate that different aspects of motor repetition in neurodevelopmental disorders, like obsessive-compulsive disorder and autism spectrum disorder, emerge from particular dysregulations in distinct cortico-basal ganglia circuits are discussed.

Journal ArticleDOI
TL;DR: The challenge in assessing which TMM is activated in tumors is discussed, the prevalence of ALT mechanism in pediatric cancers is evaluated and possible anti-TMM therapies for new emerging cancer treatments are discussed.

Journal ArticleDOI
TL;DR: Recent insights into the properties of chromatin subcompartments obtained with complementary techniques on different scales are discussed, and they are related to models for functional chromatin patterning.

Journal ArticleDOI
TL;DR: The most recent discoveries documenting the mechanisms by which shelterin represses DNA repair pathways at telomeres while assisting its replication highlight a novel connection between telomere maintenance and repair.

Journal ArticleDOI
TL;DR: Molecular pathways emerging as commonly affected by mutations in diverse ASD-risk genes are focused on, on their role during critical windows of brain development and the potential treatments targeting these biological processes.

Journal ArticleDOI
TL;DR: Evidence that the sequence context 'spectrum' of germline mutagenesis has been evolving surprisingly rapidly over the history of humans and other species is reviewed.

Journal ArticleDOI
TL;DR: Although molecular details differ between species, conservation may exist at the level of the dynamics, hinting at rules for evolutionary trajectories in the system.

Journal ArticleDOI
TL;DR: The mechanisms by which these two bone marrow failure states, aplastic anemia and MDS-AML, evolve in the setting of varying degrees of telomere shortening are dissected for patient care as well as for understanding the genetics and biology of age-related myeloid clonal evolution.