Notes

Familial colorectal cancer as well as enamel agenesis due to a good AXIN2 version: how should we detect households along with uncommon most cancers predisposition syndromes?
" High levels of cancer aneuploidy are frequently associated with poor prognosis. To examine the relationship between aneuploidy and cancer progression, we analyzed a series of congenic cell lines that harbor single extra chromosomes. We found that across 13 different trisomic cell lines, 12 trisomies suppressed invasiveness or were largely neutral, while a single trisomy increased metastatic behavior by triggering a partial epithelial-mesenchymal transition. In contrast, we discovered that chromosomal instability activates cGAS/STING signaling but strongly suppresses invasiveness. By analyzing patient copy-number data, we demonstrate that specific aneuploidies are associated with distinct outcomes, and the acquisition of certain aneuploidies is in fact linked with a favorable prognosis. Thus, aneuploidy is not a uniform driver of malignancy, and different aneuploidies can uniquely influence tumor progression. At the same time, the gain of a single chromosome is capable of inducing a profound cell state transition, thereby linking genomic plasticity, phenotypic plasticity, and metastasis. Male fertility is driven by spermatogonial stem cells (SSCs) that self-renew while also giving rise to differentiating spermatogonia. Spermatogonial transitions are accompanied by a shift in gene expression, however, whether equivalent changes in metabolism occur remains unexplored. In this review, we mined recently published scRNA-seq databases from mouse and human testes to compare expression profiles of spermatogonial subsets, focusing on metabolism. Comparisons revealed a conserved upregulation of genes involved in mitochondrial function, biogenesis, and oxidative phosphorylation in differentiating spermatogonia, while gene expression in SSCs reflected a glycolytic cell. Here, we also discuss the relationship between metabolism and the external microenvironment within which spermatogonia reside. The capacity to undergo meiosis defines vertebrate germ cells, yet mechanisms driving initiation of this specialized process are largely undefined. In this issue of Developmental Cell,Ishiguro et al. (2020) identified the transcription factor MEIOSIN as a gatekeeper of meiotic initiation in both male and female germ cells. Phosphoinositides are signaling lipids that recruit effector proteins to membranes. Shin et al. show that a glucose-starvation-induced drop in cytosolic pH alters the protonation state of the phosphoinositide PI4P, resulting in dissociation of its effector Osh1 from the trans-Golgi network membrane and metabolic regulation of lipid and protein sorting. All plants must allocate limited resources to survival, growth, and reproduction. In natural species, allocation strategies reflect trade-offs between survivorship risk and subsequent fitness benefits and are therefore central to a species' ecology. Artificial selection on allocation has generated high-yielding crops that often invest the bare minimum in defense or longevity. Ecological, genetic, and evolutionary analyses of plant life history - particularly with respect to longevity and resource allocation along an axis from annual to perennial species - provides a framework to evaluate trade-offs in plant-environment interactions in natural and managed systems. Recent efforts to develop new model plant systems for research and to increase agricultural resilience and efficiency by developing herbaceous perennial crops motivates our critical assessment of traditional assumptions regarding differences between annual and perennial plant species. Here, we review our present understanding of the genetic basis of physiological, developmental, and anatomical differences in wild and crop species and reach two broad conclusions. First, that perenniality and annuality should be considered syndromes comprised of many interacting traits, and that elucidating the genetic basis of these traits is required to assess models of evolution and to develop successful breeding strategies. Modern phenomic and biotechnology tools will facilitate these enquiries. Second, many classic assumptions about the difference between the two syndromes are supported by limited evidence. Throughout this Review, we highlight key knowledge gaps in the proximate and ultimate mechanisms driving life history variation, and suggest empirical approaches to parameterize trade-offs and to make progress in this critical area of direct relevance to ecology and plant performance in a changing world. That Bacteria, Archaea and Eukarya (eukaryotes) represent three separate domains of Life, no one having evolved from within any other, has been taken as fact for three decades. Recent work shows this to be untrue. Eukarya arose from well within Archaea and are specifically related to newly discovered archaeal species with eukaryote-like features. RXC004 molecular weight Despite a conserved requirement in mediating chromosome segregation, kinetochores display remarkable plasticity in their structure and composition. New work in holocentric insect species highlights the molecular rewiring that occurs when key structural components of the kinetochore are lost and centromere structure is changed. Many animals use gravity as a spatial reference to help navigate their surroundings, but how they do so is not well understood. A new study reveals that a representative of our closest invertebrate relatives, the tunicate Ciona, processes light and gravity cues through a simple neural circuit to decide when and how to swim. Cell extrusion is a highly coordinated process allowing the removal of an epithelial cell from the tissue layer without disrupting its integrity. Two new studies shed new light on the complexity of cell-cell coordination at play during cell extrusion. A general problem of sensory systems is how to simultaneously encode prevailing input as well as deviations from this baseline. A new study shows how the fly visual system has solved this by using parallel processing. Allometric relationships between organism size and shape are often described in developmental or evolutionary terms. A new study characterizes a collapsing birch tree mutant and provides a genetic entry point into the biomechanical control of tree allometry.
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