Search Results

Primary defects in lysosomal enzymes

Bryan G. Winchester

in Lysosomal Disorders of the Brain: Recent Advances in Molecular and Cellular Pathogenesis and Treatment

This chapter begins with a discussion of the molecular genetics of lysosomal enzyme deficiencies. It then discusses the relation of mutations to the structure and function of lysosomal enzymes, and ... More

This chapter begins with a discussion of the molecular genetics of lysosomal enzyme deficiencies. It then discusses the relation of mutations to the structure and function of lysosomal enzymes, and genotype/phenotype correlation in groups of neuronal storage disorders.Less

The Genetics of Evolutionary Novelties

Günter P. Wagner

in Homology, Genes, and Evolutionary Innovation

This chapter examines the molecular genetics of evolutionary novelties. In particular, it investigates which molecular mechanisms might be involved in the origination of novel gene regulatory ... More

This chapter examines the molecular genetics of evolutionary novelties. In particular, it investigates which molecular mechanisms might be involved in the origination of novel gene regulatory networks (and, thus, character identity networks) and what these mechanisms imply for the origin of novel characters. The chapter begins with a discussion of the complex problem of the evolution of transcriptional regulation by focusing on the evolution of cis-regulatory elements (CREs) and the evolution of transcription factor proteins. It then asks whether novel pigment spots, such as the Drosophila wing spots, are novelties. It also explores an evolutionary novelty known as sex comb and the role of transposable elements in the origin of novel CREs. Finally, it considers the role of gene duplications, the evolution of micro-RNAs (miRNAs), and the possibility of a mechanistic difference between adaptation and innovation.Less

Wetware: Reaching for the brain: raking around in biological sciences

Ian J. Deary

in Looking Down on Human Intelligence: From Psychometrics to the Brain

This chapter describes and criticizes research that seeks the biological foundations of intelligence differences by studying head size, brain size, electroencephalographic indices, brain imaging, and ... More

This chapter describes and criticizes research that seeks the biological foundations of intelligence differences by studying head size, brain size, electroencephalographic indices, brain imaging, and molecular genetics.Less

Techniques in physiology and genetics

Alistair Dawson

in Bird Ecology and Conservation: A Handbook of Techniques

This chapter considers methods used to study the physiology and genetics of birds. It describes methods for obtaining samples of blood and tissue from wild birds, experimentation, anaesthesia, ... More

This chapter considers methods used to study the physiology and genetics of birds. It describes methods for obtaining samples of blood and tissue from wild birds, experimentation, anaesthesia, administration of substances to birds, implants, and laparatomy. The legal and ethical considerations involved in the use of invasive and experimental methods are discussed in detail. The uses of materials gathered from such techniques in studies of ecotoxicology, endocrinology, energetics, and molecular genetics are described.Less

Escherichia coli

Rowland H. Davis

in The Microbial Models of Molecular Biology: From Genes to Genomes

This chapter focuses on the choice of a model organism, in this case the bacterium Escherichia coli, in the development of molecular genetics. It shows that this choice was made inconspicuously just ... More

This chapter focuses on the choice of a model organism, in this case the bacterium Escherichia coli, in the development of molecular genetics. It shows that this choice was made inconspicuously just three years after Beadle and Tatum published their 1941 paper on the first biochemical mutants of Neurospora.Less

Theory and Methods in Evolutionary Behavioral Genetics

Matthew C. Keller, Daniel P. Howrigan, and Matthew A. Simonson

in The Evolution of Personality and Individual Differences

This chapter reviews the major proximate and ultimate sources of genetic variation. It outlines the currently-available methods that can be used to examine these major sources, with an emphasis on ... More

This chapter reviews the major proximate and ultimate sources of genetic variation. It outlines the currently-available methods that can be used to examine these major sources, with an emphasis on molecular genetic methods, such as assays of mutation load and whole-genome association studies. It argues for the necessity of “consilience” between evolutionary psychology and molecular genetics.Less

Microbial community ecology of tick-borne human pathogens

Clay Keith, Clay Fuqua, Curt Lively, and Michael J. Wade

in Disease Ecology: Community structure and pathogen dynamics

The prevalence of human pathogens may be determined in part by microbial interactions within vectors. Ticks represent the primary source of vector-borne infections disease in the United States and ... More

The prevalence of human pathogens may be determined in part by microbial interactions within vectors. Ticks represent the primary source of vector-borne infections disease in the United States and carry more human pathogens than any other arthropod. This chapter explores the use of molecular genetic methods to examine microbial community structure in several common tick species to test the direction and strength of microbial interactions. Microbial interactions are explored via epidemiological models to see whether they affect pathogen prevalence and disease incidence. The results are generally applicable to a wide range of arthropod vectors of disease such as mosquitoes, fleas, and lice, and provide a better understanding of how microbial community ecology affects disease dynamics.Less

Behaving: Its Nature and Nurture (Part 2)

Kenneth F. Schaffner

in Behaving: What's Genetic, What's Not, and Why Should We Care?

This chapter focuses on recent molecular approaches to behavioral genetics including gene finding and molecular genetics. In the latter the investigators identify critical DNA variants and trace the ... More

This chapter focuses on recent molecular approaches to behavioral genetics including gene finding and molecular genetics. In the latter the investigators identify critical DNA variants and trace the biological pathways from DNA to traits or disorders. The dialogue between Judge Jean and the behavioral geneticist is resumed, now discussing linkage and association methods including the newer genome-wide association studies (GWAS) that have produced a paradigm shift and raised the problem of "missing heritability." Novelty seeking and Alzheimer's disease studies are summarized, and how quantitative and molecular research programs are related is considered. The final dialogue introduces two cases involving genetic testing for IQ and for attention deficit hyperactivity disorder (ADHD). Judge Jean learns how much is known about both the quantitative and the molecular aspects of IQ and ADHD, and she is introduced to a promising but skeptical vision of the future of behavioral genetics in the context of neuroscientific complexity.Less

Getting Their Organ

Nathaniel Comfort

in The Science of Human Perfection: How Genes Became the Heart of American Medicine

This chapter argues that Victor McKusik was not the founder of medical genetics, but was rather a mere guide of the discipline as it transcended into becoming molecular genetics and genomics. The ... More

This chapter argues that Victor McKusik was not the founder of medical genetics, but was rather a mere guide of the discipline as it transcended into becoming molecular genetics and genomics. The chapter explains that when McKusik was studying genetics, the discipline already had an extensive history that stretches back in decades before he even started working on it. During the Progressive era, physicians, public health workers, health reformers, and geneticists, studied the genetics of disease, creating research paradigms and disease model systems that are still in use today.Less

Genetic and Environmental Influences on Positive Emotionality

Ragnhild Bang Nes

in Positive Emotion: Integrating the Light Sides and Dark Sides

Some people seem to have more joy juice than others, experiencing more positive emotions. Why is this so? An abundance of studies have shown that positivity runs in families, suggesting that positive ... More

Some people seem to have more joy juice than others, experiencing more positive emotions. Why is this so? An abundance of studies have shown that positivity runs in families, suggesting that positive emotions may be rooted in genetics or shared family circumstances. Over the last decade, behavior geneticists have tried to resolve why positivity is a family matter and shown family resemblance to be largely due to genes. By means of quantitative and molecular genetic techniques, behavior genetic studies have also enabled a growing understanding of the genetic and environmental processes underpinning variation, co-variation, stability, and change in positive emotions, and identified some of the specific genes involved. This chapter aims to provide an overview of methods, findings and implications from studies exploring genetic and environmental influences on a range of positivity indicators such as subjective well-being, life satisfaction, positive affect, and optimism. Thus, the focus is placed on positive emotionality broadly defined with the choice of indicators largely determined (or limited) by the research that has been published to date.Less

Behaving: Its Nature and Nurture (Part 1)

Kenneth F. Schaffner

in Behaving: What's Genetic, What's Not, and Why Should We Care?

Chapters 1 (and 2) provide a common basis and a vocabulary for appreciating the contours of behavioral and psychiatric genetics. There are three dialogues between a behavioral geneticist and an ... More

Chapters 1 (and 2) provide a common basis and a vocabulary for appreciating the contours of behavioral and psychiatric genetics. There are three dialogues between a behavioral geneticist and an appeals court judge who wishes to find out more about behavioral genetics for eventual use in her court cases. The distinction between classical quantitative genetics and modern molecular genetics is introduced. In the former, no specific genes are identified, though heritability estimates are provided. The contentious concept of "heritability" is analyzed in detail and its limitations delineated in the first dialogue. A simple mathematical argument is sketched to show how twin studies yield heritabilities and environmental influences for both traits and disorders, and the critical assumptions of such studies are summarized. The chapter closes with an analysis of the shared and nonshared environment issue and a sketch of what is known as an ACE diagram.Less

Molecular genetics of psychological well-being

Meike Bartels and Bart M. L. Baselmans

in Genetics of Psychological Well-Being: The role of heritability and genetics in positive psychology

Psychological well-being constitutes a growing area of research in behavioral genetics. Quantitative behavioral genetic studies have revealed that a substantial part (~40%) of the variation in ... More

Psychological well-being constitutes a growing area of research in behavioral genetics. Quantitative behavioral genetic studies have revealed that a substantial part (~40%) of the variation in subjective well-being (SWB) could be attributed to genetic influences, supporting the scientific effort to identify genomic regions associated with well-being. However, this field is still in its infancy and the few attempts are showing mixed results. Therefore, this chapter provides an overview of the existing molecular genetic studies involving psychological well-being. The different methodological approaches, such as linkage and association analysis, are discussed for their strengths and limitations as well as their opportunities. In general, most studies were likely underpowered to detect genetic effects associated with well-being, a phenotype that is expected to be influenced by many genes with small effect sizes. However, a GWAS (>100K) is in the pipeline and will appear in the near future.Less

Genes, environment, and psychological well-being

Michael Pluess and Michael J. Meaney

in Genetics of Psychological Well-Being: The role of heritability and genetics in positive psychology

The field of psychology has a long history of debating to what degree psychological traits are determined by genetic predispositions versus environmental factors. According to quantitative behavioral ... More

The field of psychology has a long history of debating to what degree psychological traits are determined by genetic predispositions versus environmental factors. According to quantitative behavioral genetics studies, psychological well-being has a significant heritable genetic component. However, environmental factors consistently tend to explain more variance than genetic ones. While these findings imply that genes and environment have independent and distinctly quantifiable effects, a biological perspective suggests that any developmental outcome is the function of the dynamic and bidirectional interplay between genetic and environmental factors. This view is supported by recent molecular genetics studies on gene–environment interaction and epigenetics. Consequently, psychological well-being reflects the combined additive and multiplicative effect of multiple factors, including genes, environment, their interaction, as well as stochastic processes. Given this complex relationship between genes and environment, current methods and approaches are not yet able to precisely disentangle genetic and environmental contributions to psychological well-being.Less

Methodology of quantitative behavior and molecular genetics

Susan C. South and Amber M. Jarnecke

in Genetics of Psychological Well-Being: The role of heritability and genetics in positive psychology

Within the social and behavioral sciences, there is a long history of the study of genetic and environmental influences on individual differences between people. This chapter provides an overview of ... More

Within the social and behavioral sciences, there is a long history of the study of genetic and environmental influences on individual differences between people. This chapter provides an overview of the methods used to study behavioral and molecular genetics of well-being. The focus of behavior genetics is quantitative modeling using genetically informative family data to determine the relative influence of genes and environment on individual differences. Studies based on the well-known twin method report consistently that the inter-individual variability of almost any psychologically meaningful variable, including well-being, has a significant heritable component. More recently, molecular genetics techniques have been developed and used to identify measured sequences of DNA that can be tied to differences between people. New techniques from both behavior and molecular genetics continue to evolve, including biometric moderation models, biometric growth curve models, genome-wide and epigenome-wide association studies, and most recently, genome-wide complex trait analyses.Less

Introduction

in Genomes and What to Make of Them

This introductory chapter first sets out the book's main purpose, which is to convey some sense of the new powers with which we are being endowed as genomics and a new molecular genetics grow out of ... More

This introductory chapter first sets out the book's main purpose, which is to convey some sense of the new powers with which we are being endowed as genomics and a new molecular genetics grow out of traditional genetics, and of the likely impact and significance of those powers and their use. A second, equally important objective is to convey how knowledge, in the sense of theories, schemas, and ideas, has also changed in this context, along with powers and techniques. An overview of the subsequent chapters is then presented.Less

Changes in Quantitative Traits Over Time

Bruce Walsh and Michael Lynch

in Evolution and Selection of Quantitative Traits

Quantitative traits—be they morphological or physiological characters, aspects of behavior, or genome-level features such as the amount of RNA or protein expression for a specific gene—usually show ... More

Quantitative traits—be they morphological or physiological characters, aspects of behavior, or genome-level features such as the amount of RNA or protein expression for a specific gene—usually show considerable variation within and among populations. This chapter provides a historical overview of the study of such traits and their connections with traditional and molecular population genetics, applied breeding, and evolutionary theory.Less