Genes, Brain Function, and Behavior: What Genes Do, How They Malfunction, and Ways to Repair Damage

Description

Genes, Brain Function, and Behavior offers a concise description of the nervous system that processes sensory input and initiates motor movements. It reviews how behaviors are defined and measured, and how experts decide when a behavior is perturbed and in need of treatment. Behavioral disorders that are clearly related to a defect in a specific gene are reviewed, and the challenges of understanding complex traits such as intelligence, autism and schizophrenia that involve numerous genes and environmental factors are explored. New methods of altering genes offer hope for treating or even preventing difficulties that arise in our genes. This book explains what genes are, what they do in the nervous system, and how this impacts both brain function and behavior. Cover GENES, BRAIN FUNCTION, AND BEHAVIOR What Genes Do, How They Malfunction, and Ways to Repair Damage Copyright Author Biography Preface Precision Medicine and Consumer genetics: The Personal Genome Clear Questions, Different Answers, or No Answers Authoritative Sources References Acknowledgments 1 Levels and Explanations Levels and Scientific Disciplines Levels and Size Properties and Connections Levels and Genes Animal Models The Experience of Pain Expertise and Applications Highlights References 2 Genes DNA, RNA and Protein Gene Names and Gene Functions Mutation Genotype and Phenotype Sources of Information Highlights References Further Reading 3 Gene Expression Inside and Outside the Nucleus Gene Expression Suppression of Gene Expression Early Experience and Lasting Changes Learning and Memory Transgenerational Effects of Environment Genes, Environment, Other RNA Genes Beyond Dichotomies Heredity A Gut Feeling About Heredity Definitions Used in This Book Highlights References 4 The Nervous System Gross Anatomy and Art Parts of the Brain Neurons Complexity Synaptic Transmission Neurotransmitters Gene Expression in Brain Sensory Input Smell or Olfaction Pheromones Ligands Taste Touch Nociception Pain Motor Output Functions and Systems Highlights References 5 Development The Early Embryo Rapid Transformations Gene Expression Extreme Phenotypic Plasticity Emergence of the Nervous System Early Gene Expression Induction of Nervous System HOX and the Head-Tail Axis Making Connections Axon Outgrowth and Path Finding Synapse Formation Plasticity of Development Cell Death and Axon Pruning Synaptic Competition and Refinement Early Visual Experience and Critical Periods Highlights References 6 Behavior Kinds of Tests and Measures The Quest for Natural Behavior Unobtrusive Observations Physical Measures Self-report Self-ratings for Preliminary Screening Rating by a Parent or Friend Rating by a Trained Observer Multiple-Choice Items Diagnosis by a Professional Behaviors Vs Psychological Constructs Goals of Testing and Applications of Test Scores Standardized Psychological Tests Choice of Test Items Standardization Statistical Transformation Generate the IQ Score Example-Hypothetical Changing Standards The SAT Tests With No Standards Clinical Interview and Diagnosis Comparing Systems Agreement Between Psychiatrists The Interview Changing Criteria and Categories DSM Critiques-Internal DSM Critiques-External Steps Toward New Diagnostic Systems Conclusions Highlights References 7 Single-Gene and Chromosomal Disorders Alleles Genetic Transmission The Relation of Genotype to Phenotype: Gene Expression Recessive Expression Dominant Expression Multiple Alleles, Genotypes, and Phenotypes Instructive Examples Highlights References 8 Phenylketonuria (PKU) Transmission and Frequency Chemical Pathway and Prevention Newborn Screening, Prevention and a Critical Period Carrier Detection Other Causes of Elevated Phenylalanine Diet Termination Maternal PKU Social Factors and Compliance Lessons Learned 30 Years Ago Highlights Part 1 30 Years Later Update: Genotype Update: Diagnosis Update: Treatment Update: Diet Formulation Update: Compliance Update: Newborn Screening The Future Frequency of Mutant Forms of PAH Consequences of the New Molecular Genetics Compliance and the Social Context Highlights Part 2 References 9 Huntington Disease History An Expandable Mutation Mutant Genotype, Normal Phenotype Diagnosis The Function of Huntingtin Protein Mouse Models Treatment of Human HD Prevention of HD in Current Generation Prevention of HD in Future Generations Highlights References Further Reading 10 Androgen Insensitivity Syndrome (AIS) History Modes of Transmission and Expression Hormone Synthesis and Receptors AR Gene Structure and Function Embryo Sex Development Phenotypes and Genotypes in AIS Kennedy Disease Gene Expression and Function Sex Differences in Gene Expression Other Phenotypes Women in Sports Treatment CAIS PAIS MAIS Terminology, Respect and Human Rights Highlights References 11 Leber's Optic Neuropathy The Puzzle Solved: Mitochondria Incomplete Penetrance, Sex, Smoking, Recovery Prevalence and Founder Effects What the Genes Do Treatment and Cure Highlights References Further Reading 12 Down Syndrome History Terminology-The Demise of ``Mongolism´´ The Syndrome Trisomy 21 Maternal Age and Parental Origin of the Extra Chromosome Screening for Down Syndrome Prevalence and Mortality Genes in the DS Critical Region Mouse Models to the Rescue? Into the Mainstream The Continuing Quest for a Cure Highlights References 13 The XYY Male Speckulation Frequencies of XYY in Large Surveys New Research Ethics and Old Myths In Search of a Syndrome Height Testes and Hormones Mental Abilities Mortality and Termination Crime Revisited The Case of Mario: Imputable and Dangerous? Genes on the Y Other Chromosome Anomalies Highlights References 14 Complex Traits Two Approaches to Understanding Heredity Finding Genes and Mutations Linkage and Chromosome Maps Molecular Markers SNPs Detecting Mutations Galton and Correlation Correlation and IQ Heritability Genetic Models of Correlation Origins of Heritability in Animal Breeding Twins Assumptions Assessing HxE Interaction Critiques of Heritability Implications of Heritability Modifiability Selective Breeding Prospects for Detecting Gene Effects Highlights References Further Reading 15 Intelligence The Rise of Intelligence Testing Binet Pearson Spearman and Burt Terman Wechsler Diversity of Tests Effect Size Environment The Flynn Effect Adoption Enrichment Coaching Schooling How Small Is Too Small? Heritability The Difficult Birth of Behavior Genetics Cyril Burt Family and Twin Studies Why Heritability? Selective Breeding Eugenic Sterilization Facile Dismissal of Environmental Influences Statistical Interlude: Inferential Statistics Multiple Hypothesis Tests Single Genes and IQ Quest for Major Genes GWAS Effect Sizes Polygenic Prediction Intellectual Disability Contrasting IQ Genes and ID Genes Highlights References Further Reading 16 Autism Definition and Diagnosis Intellectual Disability Autism Spectrum Disorder and Asperger's Syndrome Autism Rating Scales Gender Differences Heredity and Environment Prevalence Familial Risk and Heritability Early Environments Vaccinations, Thimerosal, and Autism Treatment Efficacy and Meta-Analysis Drug Therapy Single Gene Mutations Neuroligin and Others GWAS Exon Sequencing Whole Genome Sequencing Gene Function and Networks ASD, IQ, and ID Genes SNP Prediction of ASD Genes and Sex Differences Interactions Reducing the Prevalence of Autism Genetic Screening Paternal Age Better Spacing of Pregnancies Toxins in the Environment Highlights References Further Reading 17 Schizophrenia The Era of ICD and DSM Sane in Insane Places DSM-3 to -5 Research Domain Criteria (RDoC) Environment Large Surveys and Meta-Analyses Adoption Heredity and Family A Family Study Adoption Studies Twins MZ Twins Reared Apart DZ Twins Reared Together Versus Siblings MZ Versus DZ Twins-Environments MZ Versus DZ Twins: Concordance and Correlation Examples of MZ Versus DZ Twins Single Genes Linkage Studies Copy Number Variations (CNVs) GWAS Large Sample GWAS In the Wake of Large GWAS Whole Genome Sequencing Drug Therapy Highlights References 18 Sexuality and Gender Varieties of Traits Legal Classifications Population Prevalence Who Is Abnormal? Heredity Politics and Religion Family and Twins Penetrance The ``Gay´´Gene GWAS Congenital Adrenal Hyperplasia (CAH) Environment Older Brothers Childhood Sexual Abuse Abuse in Adolescence Another Look at ``Born This Way´´ Same-Sex Attraction is a Complex Trait Genetic and Environmental Variance Heritability and Modifiability Eugenics Highlights References 19 Race A Brief History of Humanity Age of Rocks and Fossils Carbon Dating Mutations: Clicks in the DNA Clock The Haplotype Clock A Chronology of Important Events Neanderthals-Our Kissing Cousins Accelerating Dispersal Around the Globe Admixture and Continuing Migration What is a Race? Geneticists Views on Race Anthropologists Views of Race Official Government Views of Race Admixture in the Modern World Phenotypes Skin Color Eye Color Health and Disease Intelligence Experience of Racial Discrimination Beyond Science Highlights References Further Reading 20 The Future What Genes Do Single Gene Perspective Complex Traits Anticipating Future Trends Discovery of Genetic Effects Discovery of Treatments, Therapies Genetic Screening Miracle Cures? Cystic Fibrosis-Dizzying Complexity and Cost Renewed Eugenics? Embryo Selection Screening Fetal Cells and DNA in Maternal Blood Newborn Screening Sterilization of a Prepubertal Young Person Selective Chemical Ablation of a Disease-Related Allele Deciding Not to Have Children Ethical Standards Prenatal Screening Infancy Adulthood Privacy References Index A B C D E F G H I K L M N O P R S T U V W X Z