Showing papers in "Current Opinion in Genetics & Development in 2021"
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TL;DR: Recent findings pointing to the occurrence of transcription hubs and the implications of such hubs on the regulation of gene activity are summarized.
63 citations
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TL;DR: Spatially resolved transcriptomics (SRT) offers the promise of understanding cells and their modes of dysfunction in the context of intact tissues as mentioned in this paper, with a large number being published in recent years.
49 citations
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TL;DR: Recent results in nuclear architecture using chromosome conformation capture methods are reviewed with an emphasis on CTCF function, with the goal of gaining a mechanistic understanding of the principles by which chromatin is folded in the eukaryotic nucleus.
38 citations
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TL;DR: In this paper, the authors describe the evolution of sexual dimorphism from a comparative perspective and argue that insect sex determination and differentiation systems are composites of rapidly evolving and highly conserved elements.
34 citations
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TL;DR: Key TF properties uncovered by live-cell SMT, such as fast turnover (seconds), and formation of clusters that locally increase activity are discussed.
34 citations
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TL;DR: In the last two years the field has seen the progression of using patient derived organoids (alone and in co-culture) as predictors of treatment response, molecular stratification of tumours that predict outcome and treatment response; mouse models of metastatic disease; and transplant models that can be used to de-risk clinical trials as mentioned in this paper.
30 citations
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TL;DR: This work states that it is becoming crucial for experimental biologists to have a clear understanding of the diverse theoretical modeling approaches available and the biological information each of them can provide.
27 citations
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TL;DR: In this paper, copy number variants (CNVs) at specific loci have been identified as important risk factors for several neuropsychiatric disorders, such as schizophrenia, autism spectrum disorder, intellectual disability (ID) and depression.
26 citations
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TL;DR: The 16p11.2 BP4 and BP5 region is a recurrent ∼600kb copy number variant (CNV), and deletions are one of the most frequent etiologies of neurodevelopmental disorders and autism spectrum disorder with an incidence of approximately 1/2000.
26 citations
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TL;DR: In this article, the functional relationship between genome topology and gene expression was investigated, with a particular focus on enhancer function, using genetic manipulations to perturb topological features and loops at different scales.
25 citations
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TL;DR: This review focuses on recent findings of mechanisms causing repeat fragility and instability, new associations between repeat expansions and genetic diseases, and potential therapeutic options to target repeat expansions.
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TL;DR: A review of the role of exosomes in cancer progression can be found in this paper, where the authors explore how exosome ultimately contributes to the progression of a primary tumor to metastatic disease, including roles in cell-to-cell communication, stromal reprogramming, angiogenesis and immune responses.
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TL;DR: The possibility that proximity of RNA to nuclear speckles - biomolecular condensates that are highly enriched in splicing factors and other RNA binding proteins - is associated with choices ranging from efficient co-transcribed splicing, export and stability to regulated post-transcriptional splicing and possible vulnerability to decay is discussed.
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TL;DR: Without clear multidisciplinary consensus recommendations, active involvement of medical specialists working with NPD patients, and practical education and training, the implementation of genetic testing for NPD will continue to lag behind other areas of medicine.
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TL;DR: In cancer, oncogenes and surrounding regulatory regions can untether themselves from chromosomes, forming extrachromosomal DNA particles (ecDNAs), which drive high oncogene copy number and intratumoral genetic heterogeneity, endowing tumors with the ability to rapidly change their genomes, accelerating tumor evolution and contributing to therapeutic resistance.
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TL;DR: In this article, the authors discuss several recently discovered mechanisms through which ATR safeguards genomic integrity during the cell cycle, from S phase to mitosis, through its control of replication fork speed and stability, replication origin firing, completion of genome duplication, and chromosome segregation.
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TL;DR: The mammalian globin gene clusters provide a paradigm for studying the relationship between genome structure and function and new insights are brought into the general principles underlying the three-dimensional structure of the genome and its relationship to gene expression throughout time.
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TL;DR: Butterflies display some of the most striking examples of structural colour in nature as mentioned in this paper, which originate from cuticular scales that cover the wing surface, which have evolved a diverse suite of optical nanostructures capable of manipulating light.
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TL;DR: The nucleus is a highly structured organelle with many chromatin and protein compartments that partition the genome into regulatory domains as discussed by the authors, where intermediate filament proteins act as a link between cytoskeletal and inner nuclear membrane (INM) proteins, chromatin binders and modifiers, and heterochromatin.
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TL;DR: In this article, the importance of dynamic chromatin organization in the developmental patterning of the brain, and its role in fine tuning brain activity and plasticity is discussed, and a better understanding of how disease-associated mutations interfere with chromatin organisation and long-range gene regulation will help reveal the molecular mechanisms underlying complex neurodevelopmental and neuropsychiatric disorders.
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TL;DR: Transcription factor (TF)-induced reprogramming of somatic cells across lineages and to induced pluripotent stem cells (iPSCs) has revealed a remarkable plasticity of differentiated cells and presents great opportunities for generating clinically relevant cell types for disease modeling and regenerative medicine as discussed by the authors.
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TL;DR: Recently, a series of systematic studies utilizing site-specific DNA breaks for BIR initiation in mammalian reporters led to the discovery of highly efficient RAD51-dependent BIR in yeast which is the focus of this review.
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TL;DR: This article provided an integrated overview of the major dynamic changes in transcriptional processes, chromatin composition and 3D organization which the maternal and paternal genomes undergo during oocyte and early embryonic development in mice.
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TL;DR: The role of individual ADP-ribosylation sites is still unclear, although the structural and mechanistic understanding of individual sites provide new insights into human physiopathology and cancer therapy.
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TL;DR: The regulation of genomic function is in part mediated through the physical organization and architecture of the nucleus Disruption to nuclear organisation and architecture is increasingly being recognized by its contribution to many diseases as mentioned in this paper.
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TL;DR: The elucidation of the molecular genetic basis of shell pigmentation has been slow, probably because of the high genome complexity of gastropods and bivalves as discussed by the authors, but recent technical innovations are revealing surprising patterns in mollusc shell pigment, such as an unexpectedly modest role for melanins and rapid divergences in the mix of pigments used to achieve similar colour patterns.
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TL;DR: This mini-review discusses the distinct embryonic origins, microenvironments, and transcriptomic profiles of fibroblastic lineages, and how these varying lineages shape the skin's wound response across injury depths, anatomic locations, and developmental time to promote either scarring or regeneration.
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TL;DR: The nuclear pore complex (NPC) as discussed by the authors is a massive nuclear envelope-embedded protein complex, the canonical function of which is to mediate selective nucleocytoplasmic transport.
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TL;DR: In this paper, a review of available data on the development of avian structural colors is presented, which identifies promising avenues for future research that can address current knowledge gaps, which are also highly relevant for the sustainable engineering of advanced bioinspired and biomimetic materials.
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TL;DR: In this paper, the authors review recent advances in understanding of how blocked replication forks in vertebrate cells can be processed for recombination and for replication restart, and show that the homologous recombination (HR) pathway plays an important role, protecting the stalled fork and processing it for repair.