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

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
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	B
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	D
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