Julian C. Knight
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199227693
- eISBN:
- 9780191711015
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199227693.003.0011
- Subject:
- Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology
This chapter discusses the role of genetic variation in modulating gene expression and how this can help resolve functionally important regulatory variants. The successful application of genetic ...
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This chapter discusses the role of genetic variation in modulating gene expression and how this can help resolve functionally important regulatory variants. The successful application of genetic mapping techniques to define expression quantitative trait loci in model organisms including yeast and mice is discussed, together with evidence from studies of human populations. The need to take into account transcript isoform diversity resulting from alternative splicing is highlighted, together with the value of analysis based on allele-specific gene expression and at the protein level. The synergy between genome-wide disease association studies and analysis of the genetics of gene expression, also at a genome-wide level in terms of markers and expression traits, is illustrated by review of recent studies in asthma. The context specificity of regulatory variants is demonstrated, noting the importance of analysis in primary cells or tissues in conditions relevant to the disease or other trait of interest.Less
This chapter discusses the role of genetic variation in modulating gene expression and how this can help resolve functionally important regulatory variants. The successful application of genetic mapping techniques to define expression quantitative trait loci in model organisms including yeast and mice is discussed, together with evidence from studies of human populations. The need to take into account transcript isoform diversity resulting from alternative splicing is highlighted, together with the value of analysis based on allele-specific gene expression and at the protein level. The synergy between genome-wide disease association studies and analysis of the genetics of gene expression, also at a genome-wide level in terms of markers and expression traits, is illustrated by review of recent studies in asthma. The context specificity of regulatory variants is demonstrated, noting the importance of analysis in primary cells or tissues in conditions relevant to the disease or other trait of interest.
Uwe Ernsberger
- Published in print:
- 2004
- Published Online:
- September 2009
- ISBN:
- 9780198509981
- eISBN:
- 9780191723810
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780198509981.003.0003
- Subject:
- Neuroscience, Molecular and Cellular Systems
This chapter begins with a discussion of promoter analysis for the study of neuron-specific regulatory elements. It then discusses the regulation of neuronal gene expression by the neuron-restrictive ...
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This chapter begins with a discussion of promoter analysis for the study of neuron-specific regulatory elements. It then discusses the regulation of neuronal gene expression by the neuron-restrictive silencer, the regulation of neuronal gene expression by population-specific transcription factors, population-specific transcription factor cascades, synexpression groups, neuronal functions at the transcriptional level, and regulation of gene expression by growth factors.Less
This chapter begins with a discussion of promoter analysis for the study of neuron-specific regulatory elements. It then discusses the regulation of neuronal gene expression by the neuron-restrictive silencer, the regulation of neuronal gene expression by population-specific transcription factors, population-specific transcription factor cascades, synexpression groups, neuronal functions at the transcriptional level, and regulation of gene expression by growth factors.
Carsten Wiuf and Claus L. Andersen (eds)
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199532872
- eISBN:
- 9780191714467
- Item type:
- book
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199532872.001.0001
- Subject:
- Mathematics, Probability / Statistics, Biostatistics
This book discusses novel advances in informatics and statistics in molecular cancer research. Through eight chapters it discusses specific topics in cancer research, talks about how the topics give ...
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This book discusses novel advances in informatics and statistics in molecular cancer research. Through eight chapters it discusses specific topics in cancer research, talks about how the topics give rise to development of new informatics and statistics tools, and explains how the tools can be applied. The focus of the book is to provide an understanding of key concepts and tools, rather than focusing on technical issues. A main theme is the extensive use of array technologies in modern cancer research — gene expression and exon arrays, SNP and copy number arrays and methylation arrays — to derive quantitative and qualitative statements about cancer, its progression and aetiology, and to understand how these technologies at one hand allow us learn about cancer tissue as a complex system and at the other hand allow us to pinpoint key genes and events as crucial for the development of the disease. Cancer is characterized by genetic and genomic alterations that influence all levels of the cell's machinery and function.Less
This book discusses novel advances in informatics and statistics in molecular cancer research. Through eight chapters it discusses specific topics in cancer research, talks about how the topics give rise to development of new informatics and statistics tools, and explains how the tools can be applied. The focus of the book is to provide an understanding of key concepts and tools, rather than focusing on technical issues. A main theme is the extensive use of array technologies in modern cancer research — gene expression and exon arrays, SNP and copy number arrays and methylation arrays — to derive quantitative and qualitative statements about cancer, its progression and aetiology, and to understand how these technologies at one hand allow us learn about cancer tissue as a complex system and at the other hand allow us to pinpoint key genes and events as crucial for the development of the disease. Cancer is characterized by genetic and genomic alterations that influence all levels of the cell's machinery and function.
Outi Monni and Sampsa Hautaniemi
- Published in print:
- 2009
- Published Online:
- September 2009
- ISBN:
- 9780199532872
- eISBN:
- 9780191714467
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199532872.003.0004
- Subject:
- Mathematics, Probability / Statistics, Biostatistics
This chapter discusses methods to measure and integrate microarray-based copy number and gene expression data. It is well-known that gene copy number alterations are a key factor in cancer ...
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This chapter discusses methods to measure and integrate microarray-based copy number and gene expression data. It is well-known that gene copy number alterations are a key factor in cancer development and progression. Especially gene amplification is known to be important mechanism for the cancer cells to increase expression of cellular proto-oncogenes. Thus, systematic identification of genes with elevated copy number and gene expression levels is important in discovery of potential therapeutic target genes in human cancers. Here, the chapter reviews the main methods to measure genome-wide copy number and gene expression levels. The main aim is to describe systematic computational data analysis approaches for integrating high-throughput copy number and gene expression data.Less
This chapter discusses methods to measure and integrate microarray-based copy number and gene expression data. It is well-known that gene copy number alterations are a key factor in cancer development and progression. Especially gene amplification is known to be important mechanism for the cancer cells to increase expression of cellular proto-oncogenes. Thus, systematic identification of genes with elevated copy number and gene expression levels is important in discovery of potential therapeutic target genes in human cancers. Here, the chapter reviews the main methods to measure genome-wide copy number and gene expression levels. The main aim is to describe systematic computational data analysis approaches for integrating high-throughput copy number and gene expression data.
EDWIN S. MONUKI and GREG LEMKE
- Published in print:
- 1995
- Published Online:
- May 2009
- ISBN:
- 9780195082937
- eISBN:
- 9780199865802
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195082937.003.0007
- Subject:
- Neuroscience, Disorders of the Nervous System
This chapter considers illustrative examples of the structural and regulatory molecules involved in myelination. Topics discussed include the myelin sheath, the molecules of the myelin sheath, ...
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This chapter considers illustrative examples of the structural and regulatory molecules involved in myelination. Topics discussed include the myelin sheath, the molecules of the myelin sheath, development of myelinating cells, and the molecules the regulate myelin gene expression.Less
This chapter considers illustrative examples of the structural and regulatory molecules involved in myelination. Topics discussed include the myelin sheath, the molecules of the myelin sheath, development of myelinating cells, and the molecules the regulate myelin gene expression.
Michael J. Meaney
- Published in print:
- 2008
- Published Online:
- September 2008
- ISBN:
- 9780195324273
- eISBN:
- 9780199893966
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195324273.003.0011
- Subject:
- Psychology, Cognitive Neuroscience, Cognitive Psychology
This chapter presents an interdisciplinary study on the effect of parental care on the psychology and biology of offspring. The research program, conducted with rodents, provides a detailed model of ...
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This chapter presents an interdisciplinary study on the effect of parental care on the psychology and biology of offspring. The research program, conducted with rodents, provides a detailed model of how early environmental influences can induce profound changes in the biology of the offspring at the level of gene expression. These changes in gene expression then have a cascading effect and alter the physiology of the offspring in ways that are enduring, probably lifelong.Less
This chapter presents an interdisciplinary study on the effect of parental care on the psychology and biology of offspring. The research program, conducted with rodents, provides a detailed model of how early environmental influences can induce profound changes in the biology of the offspring at the level of gene expression. These changes in gene expression then have a cascading effect and alter the physiology of the offspring in ways that are enduring, probably lifelong.
Anthony T. Campagnoni
- Published in print:
- 2004
- Published Online:
- May 2009
- ISBN:
- 9780195152227
- eISBN:
- 9780199865024
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195152227.003.0019
- Subject:
- Neuroscience, Development, Disorders of the Nervous System
This chapter presents a brief overview of the molecular biology of the myelin protein genes and their expression into mRNA and protein. Topics discussed include classic myelin basic proteins and ...
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This chapter presents a brief overview of the molecular biology of the myelin protein genes and their expression into mRNA and protein. Topics discussed include classic myelin basic proteins and golli proteins, myelin proteolipid proteins, myelin-associated/oligodendrocyte basic protein, myelin-associated glycoprotein, oligodendrocyte-myelin glycoprotein, and peripheral myelin protein zero.Less
This chapter presents a brief overview of the molecular biology of the myelin protein genes and their expression into mRNA and protein. Topics discussed include classic myelin basic proteins and golli proteins, myelin proteolipid proteins, myelin-associated/oligodendrocyte basic protein, myelin-associated glycoprotein, oligodendrocyte-myelin glycoprotein, and peripheral myelin protein zero.
Kim Cornish and John Wilding
- Published in print:
- 2010
- Published Online:
- September 2010
- ISBN:
- 9780195179941
- eISBN:
- 9780199864652
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195179941.003.009
- Subject:
- Neuroscience, Behavioral Neuroscience, Development
Chapter 9 addresses the complex issues that face research on neurodevelopmental disorders. These include the complexities of gene expression and taxonomies of cognitive processes, shared phenotypes, ...
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Chapter 9 addresses the complex issues that face research on neurodevelopmental disorders. These include the complexities of gene expression and taxonomies of cognitive processes, shared phenotypes, disorder heterogeneity, and methodological pitfalls. The chapter also discusses how commonalities in behavioral problems, notably persistent inattentive and distractible behaviors, can often mask important disorder-specific differences in cognitive impairments and executive dysfunction. Such commonalities in behavioral symptoms do not necessarily imply identical cognitive mechanisms or etiology. Attention profiles need to be empirically investigated using developmentally sensitive cognitive paradigms that can tease apart attention across varying subcomponents. In a discussion of attention signatures the authors note that age-related changes are apparent, and the available data provide a glimpse of how genes interact with the developing brain to produce such disorder-specific signatures. Future research needs to continue to chart developmental trajectories of attention at the behavioral and cognitive levels, but also to recognize the critical but hitherto unexplored role of the environment in producing the phenotypic end-state we associate with different neurodevelopmental disorders.Less
Chapter 9 addresses the complex issues that face research on neurodevelopmental disorders. These include the complexities of gene expression and taxonomies of cognitive processes, shared phenotypes, disorder heterogeneity, and methodological pitfalls. The chapter also discusses how commonalities in behavioral problems, notably persistent inattentive and distractible behaviors, can often mask important disorder-specific differences in cognitive impairments and executive dysfunction. Such commonalities in behavioral symptoms do not necessarily imply identical cognitive mechanisms or etiology. Attention profiles need to be empirically investigated using developmentally sensitive cognitive paradigms that can tease apart attention across varying subcomponents. In a discussion of attention signatures the authors note that age-related changes are apparent, and the available data provide a glimpse of how genes interact with the developing brain to produce such disorder-specific signatures. Future research needs to continue to chart developmental trajectories of attention at the behavioral and cognitive levels, but also to recognize the critical but hitherto unexplored role of the environment in producing the phenotypic end-state we associate with different neurodevelopmental disorders.
Mark E. S. Bailey
- Published in print:
- 2004
- Published Online:
- September 2009
- ISBN:
- 9780198509981
- eISBN:
- 9780191723810
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780198509981.003.0015
- Subject:
- Neuroscience, Molecular and Cellular Systems
This chapter summarizes what is known about the genes underlying a range of human diseases where the causative or associated gene is expressed in neurons and there is a clear primary effect on ...
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This chapter summarizes what is known about the genes underlying a range of human diseases where the causative or associated gene is expressed in neurons and there is a clear primary effect on developing of mature neurons, and illustrates how subsequent studies have illuminated both the pathogenic process and normal neuronal functioning. The topics covered are organized according to a necessarily simplistic view of the functional ontogeny of the nervous system, from early neurogenesis, migration, and pattern formation, through neuronal maturation/differentiation and mature neuronal function, to neurodegeneration and cell death.Less
This chapter summarizes what is known about the genes underlying a range of human diseases where the causative or associated gene is expressed in neurons and there is a clear primary effect on developing of mature neurons, and illustrates how subsequent studies have illuminated both the pathogenic process and normal neuronal functioning. The topics covered are organized according to a necessarily simplistic view of the functional ontogeny of the nervous system, from early neurogenesis, migration, and pattern formation, through neuronal maturation/differentiation and mature neuronal function, to neurodegeneration and cell death.
Giles E. Hardingham
- Published in print:
- 2004
- Published Online:
- September 2009
- ISBN:
- 9780198509981
- eISBN:
- 9780191723810
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780198509981.003.0010
- Subject:
- Neuroscience, Molecular and Cellular Systems
Many extracellular stimuli result in an elevation of intracellular calcium concentration. Calcium ions act as messengers, coupling many external events or stimuli to the cell's responses to those ...
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Many extracellular stimuli result in an elevation of intracellular calcium concentration. Calcium ions act as messengers, coupling many external events or stimuli to the cell's responses to those stimuli. Calcium has a central role to play in the nervous system, as well as mediating other important processes such as activation of the immune system and fertilization. This chapter addresses how calcium acts as a second messenger in mammalian neurons to couple synaptic activity to gene transcription. Such new gene expression has an important role to play in triggering long-term changes to neuronal physiology, function, and fate.Less
Many extracellular stimuli result in an elevation of intracellular calcium concentration. Calcium ions act as messengers, coupling many external events or stimuli to the cell's responses to those stimuli. Calcium has a central role to play in the nervous system, as well as mediating other important processes such as activation of the immune system and fertilization. This chapter addresses how calcium acts as a second messenger in mammalian neurons to couple synaptic activity to gene transcription. Such new gene expression has an important role to play in triggering long-term changes to neuronal physiology, function, and fate.
Jacob Höglund
- Published in print:
- 2009
- Published Online:
- May 2009
- ISBN:
- 9780199214211
- eISBN:
- 9780191706660
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199214211.003.0007
- Subject:
- Biology, Biodiversity / Conservation Biology, Evolutionary Biology / Genetics
This chapter reviews advances in genomics and their applications to conservation genetics. Topics discussed include whole-genome sequencing (WGS), assembly and annotation of the massive amount of ...
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This chapter reviews advances in genomics and their applications to conservation genetics. Topics discussed include whole-genome sequencing (WGS), assembly and annotation of the massive amount of sequence data produced by genomic studies, evolutionary and ecological analyses, genomics in conservation, and genomic studies of non-model species.Less
This chapter reviews advances in genomics and their applications to conservation genetics. Topics discussed include whole-genome sequencing (WGS), assembly and annotation of the massive amount of sequence data produced by genomic studies, evolutionary and ecological analyses, genomics in conservation, and genomic studies of non-model species.
Nikolas Rose and Joelle M. Abi-Rached
- Published in print:
- 2013
- Published Online:
- October 2017
- ISBN:
- 9780691149608
- eISBN:
- 9781400846337
- Item type:
- chapter
- Publisher:
- Princeton University Press
- DOI:
- 10.23943/princeton/9780691149608.003.0002
- Subject:
- Neuroscience, Development
This chapter examines the neuromolecular and plastic brain. Ideas about plasticity and the openness of brains to environment influences, from initial evidence about nerve development, through the ...
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This chapter examines the neuromolecular and plastic brain. Ideas about plasticity and the openness of brains to environment influences, from initial evidence about nerve development, through the recognition that synaptic plasticity was the very basis of learning and memory, to evidence about the influence of environment on gene expression and the persistence throughout life of the capacity to make new neurons—all this made the neuromolecular brain seem exquisitely open to its milieu, with changes at the molecular level occurring throughout the course of a human life and thus shaping the growth, organization, and regeneration of neurons and neuronal circuits at time scales from the millisecond to the decade. This was an opportunity to explore the myriad ways in which the milieu got “under the skin,” implying an openness of these molecular processes of the brain to biography, sociality, and culture, and hence perhaps even to history and politics.Less
This chapter examines the neuromolecular and plastic brain. Ideas about plasticity and the openness of brains to environment influences, from initial evidence about nerve development, through the recognition that synaptic plasticity was the very basis of learning and memory, to evidence about the influence of environment on gene expression and the persistence throughout life of the capacity to make new neurons—all this made the neuromolecular brain seem exquisitely open to its milieu, with changes at the molecular level occurring throughout the course of a human life and thus shaping the growth, organization, and regeneration of neurons and neuronal circuits at time scales from the millisecond to the decade. This was an opportunity to explore the myriad ways in which the milieu got “under the skin,” implying an openness of these molecular processes of the brain to biography, sociality, and culture, and hence perhaps even to history and politics.
Turk Rhen
- Published in print:
- 2007
- Published Online:
- September 2007
- ISBN:
- 9780199208784
- eISBN:
- 9780191709036
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199208784.003.0019
- Subject:
- Biology, Animal Biology
Females and males share the same genome, which places a significant constraint on the evolution of sex differences. This chapter begins with a review of current theory explaining the initial ...
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Females and males share the same genome, which places a significant constraint on the evolution of sex differences. This chapter begins with a review of current theory explaining the initial evolution of anisogamy and subsequent differentiation of the sexes. It then describes four mechanisms that relieve constraints on sexual differentiation: (i) genetic differences between the sexes; (ii) sex-limited or differential expression of autosomal loci; (iii) trans-generational epigenetic effects; and (iv) phenotypic plasticity for sexual traits (i.e., environmental influences on sexual development). All four mechanisms have evolved convergently in different evolutionary lineages. The chapter closes by advocating research programmes that integrate evolutionary and mechanistic approaches to discover how sex-specific selection interacts with genetic (and physiological) variation to produce sexual dimorphism.Less
Females and males share the same genome, which places a significant constraint on the evolution of sex differences. This chapter begins with a review of current theory explaining the initial evolution of anisogamy and subsequent differentiation of the sexes. It then describes four mechanisms that relieve constraints on sexual differentiation: (i) genetic differences between the sexes; (ii) sex-limited or differential expression of autosomal loci; (iii) trans-generational epigenetic effects; and (iv) phenotypic plasticity for sexual traits (i.e., environmental influences on sexual development). All four mechanisms have evolved convergently in different evolutionary lineages. The chapter closes by advocating research programmes that integrate evolutionary and mechanistic approaches to discover how sex-specific selection interacts with genetic (and physiological) variation to produce sexual dimorphism.
Scott E. Hemby and Joann A. O’Connor
- Published in print:
- 2007
- Published Online:
- May 2009
- ISBN:
- 9780195306255
- eISBN:
- 9780199863914
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195306255.003.0005
- Subject:
- Neuroscience, Development
Psychiatric diseases such as schizophrenia and autism spectrum disorders are generally considered to be neurodevelopmental in origin. Dysregulated gene and/or protein expression in the brain of adult ...
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Psychiatric diseases such as schizophrenia and autism spectrum disorders are generally considered to be neurodevelopmental in origin. Dysregulated gene and/or protein expression in the brain of adult schizophrenic patients must be understood in the context of a developmental model. This chapter discusses the basic mechanisms of transcriptional regulation and current knowledge of altered gene expression in schizophrenia focusing on glutamatergic and synaptic mechanisms. The relevance of these gene expression changes to neurodevelopment and other potential mechanisms of regulation in schizophrenia, and ideas about intervention to readjust dysregulated expression are considered.Less
Psychiatric diseases such as schizophrenia and autism spectrum disorders are generally considered to be neurodevelopmental in origin. Dysregulated gene and/or protein expression in the brain of adult schizophrenic patients must be understood in the context of a developmental model. This chapter discusses the basic mechanisms of transcriptional regulation and current knowledge of altered gene expression in schizophrenia focusing on glutamatergic and synaptic mechanisms. The relevance of these gene expression changes to neurodevelopment and other potential mechanisms of regulation in schizophrenia, and ideas about intervention to readjust dysregulated expression are considered.
Maureen Neitz, Kathryn Bollinger, and Jay Neitz
- Published in print:
- 2003
- Published Online:
- April 2010
- ISBN:
- 9780198525301
- eISBN:
- 9780191584947
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780198525301.003.0033
- Subject:
- Psychology, Cognitive Neuroscience
The deutan-type colour vision deficiencies, deuteranopia, and deuteranomaly are the most common types of colour blindness. A known cause of deutan colour vision defects is the loss of genes encoding ...
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The deutan-type colour vision deficiencies, deuteranopia, and deuteranomaly are the most common types of colour blindness. A known cause of deutan colour vision defects is the loss of genes encoding the middle wavelength sensitive (M) photopigments. Deutan defects have also been found to be associated with a deleterious point mutation in the M photopigment genes. This chapter tests the hypothesis that M gene expression is absent in all commonly occurring deutan defects. It shows that the commonly occurring deutan defects in which individuals have normal appearing M genes, are caused by a failure to express M pigment. Moreover, it appears that the failure is likely to be complete.Less
The deutan-type colour vision deficiencies, deuteranopia, and deuteranomaly are the most common types of colour blindness. A known cause of deutan colour vision defects is the loss of genes encoding the middle wavelength sensitive (M) photopigments. Deutan defects have also been found to be associated with a deleterious point mutation in the M photopigment genes. This chapter tests the hypothesis that M gene expression is absent in all commonly occurring deutan defects. It shows that the commonly occurring deutan defects in which individuals have normal appearing M genes, are caused by a failure to express M pigment. Moreover, it appears that the failure is likely to be complete.
Michael J. Meaney
- Published in print:
- 2007
- Published Online:
- May 2009
- ISBN:
- 9780195306255
- eISBN:
- 9780199863914
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195306255.003.0007
- Subject:
- Neuroscience, Development
This chapter provides an overview of the long-term effects of early stress on the subsequent development of both physical and mental disorder. It then discusses the role of maternal care during pre- ...
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This chapter provides an overview of the long-term effects of early stress on the subsequent development of both physical and mental disorder. It then discusses the role of maternal care during pre- and postnatal periods as an early source of these effects, using research conducted in the laboratory with the rat. The chapter then reviews potential mediators of the effects of maternal behavior on gene expression. The chapter concludes with the questions that remain regarding the effects of early stress on pathology.Less
This chapter provides an overview of the long-term effects of early stress on the subsequent development of both physical and mental disorder. It then discusses the role of maternal care during pre- and postnatal periods as an early source of these effects, using research conducted in the laboratory with the rat. The chapter then reviews potential mediators of the effects of maternal behavior on gene expression. The chapter concludes with the questions that remain regarding the effects of early stress on pathology.
ANNETTE KARMILOFF-SMITH
- Published in print:
- 2003
- Published Online:
- January 2013
- ISBN:
- 9780197262795
- eISBN:
- 9780191753954
- Item type:
- chapter
- Publisher:
- British Academy
- DOI:
- 10.5871/bacad/9780197262795.003.0016
- Subject:
- History, Cultural History
This chapter argues that there is no one-to-one, direct mapping between specific sets of genes and cognitive-level outcomes. Rather, there are very indirect mappings, with the regulation of gene ...
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This chapter argues that there is no one-to-one, direct mapping between specific sets of genes and cognitive-level outcomes. Rather, there are very indirect mappings, with the regulation of gene expression more likely to contribute to very broad differences in developmental timing, neuronal type, neuronal density, firing thresholds, neurotransmitter types, etc. It presents the neuroconstructivist framework where gene/gene interaction, gene/environment interaction and, crucially, the process of ontogeny itself (pre- and postnatal development) are all considered to play a vital role in how genes are expressed and how the brain progressively sculpts itself, slowly becoming specialised over developmental time. The infant brain is not simply a miniature version of the adult brain.Less
This chapter argues that there is no one-to-one, direct mapping between specific sets of genes and cognitive-level outcomes. Rather, there are very indirect mappings, with the regulation of gene expression more likely to contribute to very broad differences in developmental timing, neuronal type, neuronal density, firing thresholds, neurotransmitter types, etc. It presents the neuroconstructivist framework where gene/gene interaction, gene/environment interaction and, crucially, the process of ontogeny itself (pre- and postnatal development) are all considered to play a vital role in how genes are expressed and how the brain progressively sculpts itself, slowly becoming specialised over developmental time. The infant brain is not simply a miniature version of the adult brain.
Emily K. Farran and Annette Karmiloff-Smith (eds)
- Published in print:
- 2011
- Published Online:
- May 2012
- ISBN:
- 9780199594818
- eISBN:
- 9780191738166
- Item type:
- book
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199594818.001.0001
- Subject:
- Psychology, Social Psychology, Developmental Psychology
Nowadays, it is widely accepted that there is no single influence (be it nature or nurture) on cognitive development. Cognitive abilities emerge as a result of interactions between gene expression, ...
More
Nowadays, it is widely accepted that there is no single influence (be it nature or nurture) on cognitive development. Cognitive abilities emerge as a result of interactions between gene expression, cortical and subcortical brain networks, and environmental influences. In recent years, our study of neurodevelopmental disorders has provided much valuable information on how genes, brain development, behaviour, and environment interact to influence development from infancy to adulthood. This book presents evidence on development across the lifespan across these multiple levels of description (genetic, brain, cognitive, environmental). It chooses a well-defined disorder, Williams syndrome (WS), to explore the impact of genes, brain development, behaviour, as well as the individual's environment on development. WS is used as a model disorder to demonstrate the book's approach to understanding development, whilst being presented in comparison to other neurodevelopmental disorders — autism, developmental dyscalculia, Down syndrome, dyslexia, fragile X syndrome, Prader–Willi syndrome, Specific Language Impairment, Turner syndrome — to illustrate differences in development across neurodevelopmental disorders. WS is particularly informative for exploring development. Firstly, it has been extensively researched at multiple levels: genes, brain, cognition, and behaviour as well as in terms of the difficulties of daily living and social interaction. Secondly, it has been studied across the lifespan, with many studies on infants and toddlers with WS as well as a large number on children, adolescents, and adults. The book also explores a number of domain-general and domain-specific processes in the verbal, non-verbal, and social domains, across numerous neurodevelopmental disorders. This illustrates, among other factors, the importance of developmental timing, i.e., that the development of a cognitive skill at a specific timepoint can impact on subsequent development within that domain, but also across domains. In addition, the chapters discuss the value of investigating basic-level abilities from as close to the infant start-state as possible, presenting evidence of where cross-syndrome comparisons have shed light on the cascading impacts of subtle similarities and discrepancies in early delay or deviance, on subsequent development.Less
Nowadays, it is widely accepted that there is no single influence (be it nature or nurture) on cognitive development. Cognitive abilities emerge as a result of interactions between gene expression, cortical and subcortical brain networks, and environmental influences. In recent years, our study of neurodevelopmental disorders has provided much valuable information on how genes, brain development, behaviour, and environment interact to influence development from infancy to adulthood. This book presents evidence on development across the lifespan across these multiple levels of description (genetic, brain, cognitive, environmental). It chooses a well-defined disorder, Williams syndrome (WS), to explore the impact of genes, brain development, behaviour, as well as the individual's environment on development. WS is used as a model disorder to demonstrate the book's approach to understanding development, whilst being presented in comparison to other neurodevelopmental disorders — autism, developmental dyscalculia, Down syndrome, dyslexia, fragile X syndrome, Prader–Willi syndrome, Specific Language Impairment, Turner syndrome — to illustrate differences in development across neurodevelopmental disorders. WS is particularly informative for exploring development. Firstly, it has been extensively researched at multiple levels: genes, brain, cognition, and behaviour as well as in terms of the difficulties of daily living and social interaction. Secondly, it has been studied across the lifespan, with many studies on infants and toddlers with WS as well as a large number on children, adolescents, and adults. The book also explores a number of domain-general and domain-specific processes in the verbal, non-verbal, and social domains, across numerous neurodevelopmental disorders. This illustrates, among other factors, the importance of developmental timing, i.e., that the development of a cognitive skill at a specific timepoint can impact on subsequent development within that domain, but also across domains. In addition, the chapters discuss the value of investigating basic-level abilities from as close to the infant start-state as possible, presenting evidence of where cross-syndrome comparisons have shed light on the cascading impacts of subtle similarities and discrepancies in early delay or deviance, on subsequent development.
Jeffrey L. Noebels
- Published in print:
- 1995
- Published Online:
- March 2012
- ISBN:
- 9780195083309
- eISBN:
- 9780199847464
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195083309.003.0015
- Subject:
- Neuroscience, Molecular and Cellular Systems
The genes that contribute to specific cortical excitability phenotypes are difficult to predict. But one group of genes expressed in central neurons can be operationally defined and constitute a ...
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The genes that contribute to specific cortical excitability phenotypes are difficult to predict. But one group of genes expressed in central neurons can be operationally defined and constitute a category of central concern: excitability genes. These genes initiate and maintain the critical capacity for voltage-dependent membrane behavior and synaptic transmission in specific brain networks, and participate directly in their ability to display rapid neuromodulation, synchronization, and long-term retrieval of information. It is from within this group that the genetic elements most directly responsible for the heritable component of human cognitive abilities will ultimately be found. This chapter discusses the genetics of circuit assembly and genetic strategies in cerebral excitability analysis.Less
The genes that contribute to specific cortical excitability phenotypes are difficult to predict. But one group of genes expressed in central neurons can be operationally defined and constitute a category of central concern: excitability genes. These genes initiate and maintain the critical capacity for voltage-dependent membrane behavior and synaptic transmission in specific brain networks, and participate directly in their ability to display rapid neuromodulation, synchronization, and long-term retrieval of information. It is from within this group that the genetic elements most directly responsible for the heritable component of human cognitive abilities will ultimately be found. This chapter discusses the genetics of circuit assembly and genetic strategies in cerebral excitability analysis.
Peter Falkai, Oliver Gruber, and Andrea Schmitt
- Published in print:
- 2012
- Published Online:
- September 2012
- ISBN:
- 9780199592388
- eISBN:
- 9780199949922
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199592388.003.0016
- Subject:
- Neuroscience, Disorders of the Nervous System, Behavioral Neuroscience
Schizophrenia is a chronic neurocognitive brain disorder with unknown pathophysiology. There is evidence for an interaction between risk genes and environmental factors playing a role during early as ...
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Schizophrenia is a chronic neurocognitive brain disorder with unknown pathophysiology. There is evidence for an interaction between risk genes and environmental factors playing a role during early as well as late neurodevelopment leading to symptoms in early adulthood. Deficits in hippocampus-related declarative memory and decreased hippocampal volumes at the stage of first episode and during the course of the disease are key findings. Stereological postmortem studies of the hippocampus in schizophrenia revealed no alterations of neuronal cell numbers but decreased numbers of oligodendrocytes in the posterior part and a lack of astrogliosis, suggesting that schizophrenia is not a classical neurodegenerative disorder. Decreased myelination and synaptic genes support the hypothesis of impaired connectivity of the hippocampus. Dysconnectivity of the hippocampus in schizophrenia may also be related to disturbances in neurogenesis, since a reduced number of proliferating stem cells has been detected in the dentate gyrus of schizophrenia patients. Effects of several risk genes of schizophrenia like D-amino acid oxidase, neuregulin-1, dysbindin, and disrupted-in schizophrenia-1 have been demonstrated in hippocampal tissue or magnetic resonance imaging (MRI) studies. In addition, genome-wide association studies revealed new genes with widely unknown function like ZNF804 or the transcription factor TCF4. Postmortem and animal studies may elucidate the link between these risk factors and behavioural consequences such as deficits of cognition and sensorimotor gating, which are related to hippocampal function. It has, however, to be kept in mind that chronic antipsychotic treatment may have influenced results from postmortem and MRI studies.Less
Schizophrenia is a chronic neurocognitive brain disorder with unknown pathophysiology. There is evidence for an interaction between risk genes and environmental factors playing a role during early as well as late neurodevelopment leading to symptoms in early adulthood. Deficits in hippocampus-related declarative memory and decreased hippocampal volumes at the stage of first episode and during the course of the disease are key findings. Stereological postmortem studies of the hippocampus in schizophrenia revealed no alterations of neuronal cell numbers but decreased numbers of oligodendrocytes in the posterior part and a lack of astrogliosis, suggesting that schizophrenia is not a classical neurodegenerative disorder. Decreased myelination and synaptic genes support the hypothesis of impaired connectivity of the hippocampus. Dysconnectivity of the hippocampus in schizophrenia may also be related to disturbances in neurogenesis, since a reduced number of proliferating stem cells has been detected in the dentate gyrus of schizophrenia patients. Effects of several risk genes of schizophrenia like D-amino acid oxidase, neuregulin-1, dysbindin, and disrupted-in schizophrenia-1 have been demonstrated in hippocampal tissue or magnetic resonance imaging (MRI) studies. In addition, genome-wide association studies revealed new genes with widely unknown function like ZNF804 or the transcription factor TCF4. Postmortem and animal studies may elucidate the link between these risk factors and behavioural consequences such as deficits of cognition and sensorimotor gating, which are related to hippocampal function. It has, however, to be kept in mind that chronic antipsychotic treatment may have influenced results from postmortem and MRI studies.
