Chapter Five

Genetics and the

Development of the
Human Brain

CHAPTER 5
GENETICS AND DEVELOPMENT OF THE
HUMAN BRAIN

Genetics and Behavior

Genotype set of genetic instructions
23 pairs of chromosomes made up of DNA

Phenotype observable traits

Gene Expression genetic instructions
converted into a feature of a living cell
Mitochondrial DNA (mDNA) originates
from mother
Alleles alternative versions of
particular gene

Figure 5.1 Mitochondrial DNA Allows

Researchers to Trace Population
History

Figure 5.2 Three Alleles Give Rise to

Four Types of Blood

Genetics and Behavior

From Genes to Proteins
Constructed from adenine, cytosine, guanine, thymine
Human gene activity in the brain very high
Proteome proteins encoded and expressed by
genome

Sources of Genetic Diversity

Meiosis and crossing over
Mutations chromosome replication errors
The Special Case of the Sex Chromosomes
Sex-linked characteristics
X chromosome inactivation

Single Nucleotide Polymorphisms (SNPs)

Figure 5.3 The Process of Gene

Expression

Figure 5.4 Cell Division by Meiosis

Figure 5.5 Crossing Over Contributes to

Genetic Diversity

Figure 5.7 Probabilities of Hemophilia

Figure 5.9 SNPs and Disease

Genetics and Behavior

The Roles of Heredity and
Environment
Heritability always refers to a population not to
individuals
Heritability cannot be assessed without taking
the environment into account
Twin and adoption studies
Minnesota Study of Twins Reared Apart

Figure 5.10 Heritability Interacts with

Environment

Figure 5.11 Similarities in Identical

Twins

Development
Growth and Differentiation of the
Nervous System
Early differentiation
Cell germ layers ectoderm, mesoderm, and endoderm
Neural plate, neural groove, neural tube

Formation of neurons and glia

Originate from cells in the ventricular zone
Progenitor cells divide by mitosis

Cell migration
Guided by radial glia
Cells in cerebral cortex arrive in an inside-out fashion

Figure 5.14 The Closing of the Neural

Tube

Figure 5.15 Neurogenesis

Figure 5.16 Radial Glia Guide the

Migration of New Cells

Development
Differentiation
Differentiation of the dorsal and ventral halves
of neural tube
Differentiation of the neural tube along the
rostral-caudal axis

Growth of Axons and Dendrites

Developing axons and dendrites end in growth
cones
Filapodia and lamellipodia

Figure 5.17 Growth Cones Guide Axons

to Their Targets

Figure 5.18 Growth Cones Respond to

a Variety of Cues

Development
Formation of Synapses
Interaction with target cells influences the type
of neurotransmitter released by the presynaptic
cell
Movement of receptors to the synaptic site
guided by chemical release by presynaptic and
postsynaptic structures

Cell Death
Apoptosis = programmed cell death
Neurotrophins influence the survival of a neuron

Figure 5.19 Steps in the Formation of a

Synapse at the Neuromuscular
Junction

Figure 5.20 Growing Axons Compete

for Nerve Growth Factor

Development
Synaptic Pruning
Number of functional synapses is reduced

Myelination
Occurs in rostral direction starting with the
spinal cord, then hindbrain, midbrain, and
forebrain
Burst in myelination around the time of birth
Prefrontal cortex not completely myelinated
until early adulthood

Figure 5.21 Synaptic Rearrangement

over the Lifespan

Effect of Experience on Development

Plasticity
Experience and the Visual System
Early in development cells of LGN and primary
visual cortex receive input from both eyes
Experience with sensory information influences
segregation of ocular dominance

Figure 5.22 Input Influences the

Development of the Optic Tectum

Figure 5.23 Input from Both Eyes

Competes for the Control of Target
Cells in the LGN

Figure 5.24 Early Experiences Affect

the Organization of Ocular Dominance
Columns

Effect of Experience on Development

Experience and Social Behavior
Lorenz demonstrated imprinting in several
species of birds
Romanian children and social deprivation

Ending a Critical Period

Conclusion of growth spurt in myelin coincides
with reduced abilities to learn additional
languages
Presence or absence of neurotrophins may
influence timing of critical periods

Disorders of Brain Development

Neural Tube Defects
Anencephaly
Spinal bifida

Genetic Disorders
Down syndrome
Fragile-X syndrome
PKU

Environmental Toxins
Fetal alcohol syndrome

Redevelopment in Response to
Damage
Anterograde degeneration, retrograde
degeneration, and transneuronal
degeneration
Genetic therapy and Nogo inhibitors as
possible treatments

The Adult Nervous System

Fully mature at 25; weight of brain starts
to decrease at 45
Neurogenesis in Adulthood
Alzheimers Disease
neurofibrillary tangles
amyloid

Figure 5.27 Neuronal Responses to

Damage

Figure 5.28 Alzheimers Disease

Produces Structural Abnormalities in
Neurons