Genomic Mosaicism In Neurons And Other Cell Types

Author : José María Frade
Publisher : Humana
ISBN 13 : 9781493984404
Total Pages : 0 pages
Book Rating : 4.03/5 ( download)

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Download or read book Genomic Mosaicism in Neurons and Other Cell Types written by José María Frade and published by Humana. This book was released on 2018-08-18 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume presents methods for the analysis of genomic variability in vertebrate neurons and broadens our knowledge in the ways we understand the brain and its neurons. The chapters in this book are divided into 5 parts, and cover the following topics: principles and approaches for discovery of somatic mosaicism in the brain, aneuploidy and ploidy variation, DNA copy number variation, LINE-1 retrotransposition, and genetic and genomic mosaicism in aging and disease. In Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and authoritative, Genomic Mosaicism in Neurons and Other Cell Types is a valuable resource for learning about the latest techniques for the analysis of genome and genetic mosaicism in vertebrate neurons.

Author : Andrew Richards
Publisher :
ISBN 13 :
Total Pages : 94 pages
Book Rating : 4.02/5 ( download)

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Download or read book Characterizing Genomic Mosaicism in Single Neurons from Adult Human Brains written by Andrew Richards and published by . This book was released on 2018 with total page 94 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA copy number variations (CNVs) have previously been reported in human cortical neurons from non-diseased patients, but these alterations do not appear to be consistent from cell to cell and appear to be rare among neurons overall. Interestingly, Alzheimer's disease patients appear to have a higher prevalence of CNVs than non-diseased, although the biological significance of this observation is still largely unknown. Single-cell whole-genome next-generation sequencing holds promise to investigate these variations and the regions in which they occur in an unbiased manner. Unlike recent advances in single-cell RNA-seq, however, library preparation for single-cell DNA-seq suffers from extremely limited throughput. Furthermore, it is difficult to assess the significance of individual variations from whole-genome sequencing alone, particularly when control samples from non-diseased patients also show some variation at lower frequency. A potential solution is a multi-omics approach, in which information is collected about multiple species of biomolecules simultaneously from each sample, which taken together aid the interpretation of individual observations with respect to biological significance. This dissertation describes the design and development of a technology to physically separate DNA and RNA and to prepare sequencing libraries from each in parallel from limited starting samples without splitting, which we called Gel-seq. Thirty-two paired DNA and RNA sequencing libraries were successfully prepared from a variety of human and mouse cells lines and from mouse liver tissue using Gel-seq. Sample types could be clearly distinguished from each other based on either genomic copy number or transcriptomic profiles. This dissertation also describes the design and development of a technology to prepare a thousand single-cell whole-genome sequencing libraries in a single run. A proof-of-concept was performed with 87 cells from human and mouse lines. Copy number profiles agreed with bulk, and 96% and 92% of human and mouse cells, respectively, clustered correctly within their cell line based on copy number profile alone. These technologies will help to enable the unbiased characterization of genomic alterations not only in neurodegenerative disorders, but potentially also in other conditions associated with mosaic genomic backgrounds, such as cancer, microbiome disorders, or infectious diseases.

Author : Jurjen Willem Westra
Publisher :
ISBN 13 :
Total Pages : 206 pages
Book Rating : 4.84/5 ( download)

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Download or read book Genomic Mosaicism in the Human Brain written by Jurjen Willem Westra and published by . This book was released on 2008 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: The human brain is the most complicated and complex organ in the human body, responsible for not only regulating basic physiological processes such as metabolism and sensation, but also higher cognitive functions such as learning and emotion. As with all other organs of the human body, this complexity in function is built upon the framework of interconnected cells, whose individual activity/function is driven by gene transcription and protein expression. Contemporary models on brain function have been based on the static assumption that cells of the central nervous system operate under constant and non-varying genomes (i.e. that all brain cells contain two copies of each autosome and two sex chromosomes). The body of work contained in this dissertation challenges this notion, and describes the inherently mosaic composition individual cells in the human brain at the genomic level. This dissertation describes the experimental tools used to uncover DNA content variation (DCV) in the mouse and human brain, identifies a novel brain region which exhibits one type of DCV (aneuploid mosaicism), clarifies a cell-cycle based neurodegenerative model of Alzheimer's disease, and characterizes DCV in the normal human brain. The importance of DCV for basic neuroscience is underscored by the observation that DCV changes are associated in a region specific manner in neurodegenerative disease, notably Alzheimer's disease.

Author : Gwendolyn Elizabeth Kaeser
Publisher :
ISBN 13 :
Total Pages : 151 pages
Book Rating : 4.61/5 ( download)

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Download or read book Single-Cell Assessment of Genomic Mosaicism and Transcriptomic Heterogeneity in the Human Brain written by Gwendolyn Elizabeth Kaeser and published by . This book was released on 2017 with total page 151 pages. Available in PDF, EPUB and Kindle. Book excerpt: The human cerebral cortex makes up approximately 82% of the total brain mass, has 52 distinct Brodmann areas, and contains approximately 16 billion neurons. In recent years, neuroscientists, geneticists, bioengineers, and bioinformaticians, by working in collaboration have only begun to scratch the surface towards understanding the enormous cellular complexity and heterogeneity that exists in our brains. My thesis work in has focused on the investigation of the immense diversity that comprises both the genomic and the transcriptomic landscapes of the human brain through the use of traditional, and newly engineered, single-cell technologies. Neuronal genomic mosaicism--the phenomenon wherein neurons possess unique somatically altered genomes--was first identified as mosaic aneuploidies, a gain or loss of an entire chromosome. In recent years, multiple labs have now demonstrated that the somatic genomic changes also include LINE-1 retrotransposons, both large (>10 megabases (Mb)) and small (

Author : Udo Rüb
Publisher : Springer
ISBN 13 : 331919285X
Total Pages : 154 pages
Book Rating : 4.57/5 ( download)

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Download or read book The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy written by Udo Rüb and published by Springer. This book was released on 2015-09-29 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.

Author : Ivan Y. Iourov
Publisher : Frontiers Media SA
ISBN 13 : 2832505627
Total Pages : 82 pages
Book Rating : 4.25/5 ( download)

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Download or read book Somatic Genomic Mosaicism & Human Disease written by Ivan Y. Iourov and published by Frontiers Media SA. This book was released on 2022-11-14 with total page 82 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Rudolf Jaenisch
Publisher :
ISBN 13 : 9781013268564
Total Pages : 128 pages
Book Rating : 4.63/5 ( download)

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Download or read book Genome Editing in Neurosciences written by Rudolf Jaenisch and published by . This book was released on 2020-10-08 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: Innovations in molecular biology are allowing neuroscientists to study the brain with unprecedented resolution, from the level of single molecules to integrated gene circuits. Chief among these innovations is the CRISPR-Cas genome editing technology, which has the precision and scalability to tackle the complexity of the brain. This Colloque Médecine et Recherche has brought together experts from around the world that are applying genome editing to address important challenges in neuroscience, including basic biology in model organisms that has the power to reveal systems-level insight into how the nervous system develops and functions as well as research focused on understanding and treating human neurological disorders. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.

Author : Thomas Stretch Dowse
Publisher :
ISBN 13 :
Total Pages : 178 pages
Book Rating : 4.68/5 ( download)

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Download or read book The Brain and Its Diseases ... written by Thomas Stretch Dowse and published by . This book was released on 1879 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Thomas Liehr
Publisher : Springer Science & Business Media
ISBN 13 : 3642207669
Total Pages : 233 pages
Book Rating : 4.62/5 ( download)

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Download or read book Small Supernumerary Marker Chromosomes (sSMC) written by Thomas Liehr and published by Springer Science & Business Media. This book was released on 2011-11-03 with total page 233 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Author : Thomas Curran
Publisher : Springer Science & Business Media
ISBN 13 : 3642166024
Total Pages : 171 pages
Book Rating : 4.20/5 ( download)

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Download or read book Two Faces of Evil: Cancer and Neurodegeneration written by Thomas Curran and published by Springer Science & Business Media. This book was released on 2010-12-16 with total page 171 pages. Available in PDF, EPUB and Kindle. Book excerpt: Homeostasis involves a delicate interplay between generative and degenerative processes to maintain a stable internal environment. In biological systems, equilibrium is established and controlled through a series of negative feedback mechanisms driven by a range of signal transduction processes. Failures in these complex communication pathways result in instability leading to disease. Cancer represents a state of imbalance caused by an excess of cell proliferation. In contrast, neurodegeneration is a consequence of excessive cell loss in the nervous system. Both of these disorders exhort profound tolls on humanity and they have been subject to a great deal of research designed to ameliorate this suffering. For the most part, the topics have been viewed as distinct and rarely do opportunities arise for transdisciplinary discussions among experts in both fields. However, cancer and neurodegeneration represent yin-yang counterpoints in the regulation of cell growth, and it is reasonable to hypothesize that key regulatory events mediated by oncogenes and tumor suppressor genes in cancer may also affect neurodegenerative processes