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Author: José María Frade
Publisher: Humana
ISBN: 9781493984404
Category : Medical
Languages : en
Pages : 0
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Book Description
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: José María Frade
Publisher: Humana
ISBN: 9781493984404
Category : Medical
Languages : en
Pages : 0
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Book Description
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:
Category :
Languages : en
Pages : 94
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Book Description
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:
Category :
Languages : en
Pages : 206
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Book Description
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:
Category :
Languages : en
Pages : 151
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Book Description
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: Ivan Y. Iourov
Publisher: Frontiers Media SA
ISBN: 2832505627
Category : Science
Languages : en
Pages : 82
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Book Description
Author: Rudolf Jaenisch
Publisher:
ISBN: 9781013268564
Category : Medical
Languages : en
Pages : 128
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Book Description
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: Udo Rüb
Publisher: Springer
ISBN: 331919285X
Category : Medical
Languages : en
Pages : 154
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Book Description
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: Christos Proukakis
Publisher: Humana
ISBN: 9781071623596
Category : Medical
Languages : en
Pages : 0
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Book Description
This volume covers the detection of structural variants (SVs), which require different strategies than the ones used for single nucleotide variants (SNVs). This book aims to provide readers with a combination of the latest “wet lab” methods and computational pipelines that target all SV classes. The chapters in this book cover topics such as detection of transposable elements (TEs) from short read data; long read sequencing used for multiple variable number tandem repeat analysis; genomic mosaicism in the nervous system; and optical genome mapping. In the 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 comprehensive, Genomic Structural Variants in Nervous System Disorders is a valuable resource for scientists and researchers interested in learning more about this important field.
Author: Thomas Liehr
Publisher: Springer Science & Business Media
ISBN: 3642207669
Category : Medical
Languages : en
Pages : 233
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Book Description
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: Jan Vijg
Publisher: OUP Oxford
ISBN: 0191524581
Category : Science
Languages : en
Pages : 384
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Book Description
Aging has long since been ascribed to the gradual accumulation of DNA mutations in the genome of somatic cells. However, it is only recently that the necessary sophisticated technology has been developed to begin testing this theory and its consequences. Vijg critically reviews the concept of genomic instability as a possible universal cause of aging in the context of a new, holistic understanding of genome functioning in complex organisms resulting from recent advances in functional genomics and systems biology. It provides an up-to-date synthesis of current research, as well as a look ahead to the design of strategies to retard or reverse the deleterious effects of aging. This is particularly important in a time when we are urgently trying to unravel the genetic component of aging-related diseases. Moreover, there is a growing public recognition of the imperative of understanding more about the underlying biology of aging, driven by continuing demographic change.
