Biological Psychology - Ribonucleic acid (RNA): A molecule that is

Chapter 5 Reviewer similar to DNA that participates in the

Genetics and the Development of Human Brain translation of genetic sequences into proteins.
o A strand of DNA produces a copy of
Genetics and Behavior itself on a strand of RNA.
- Codons: The bases along the DNA and RNA
Genotype and Phenotype: strands occur in groups of three.
Genotype: Each cell in the body (except red blood o Each codon provides instructions for
cells and reproductive cells) contains two complete the production of one of 20 amino acids,
copies of the human genome (Your personal set).
which are joined by ribosomes to form a
Phenotype: Genotype interacts with environmental
chain.
influences to produce observable characteristics.
- Proteome: The set of proteins encoded and
Chromosomes and DNA: expressed by the genome.
- The genotype consists of 23 matched pairs of Sources of Genetic Diversity
chromosomes, with one from each parent.
- Chromosomes are composed of molecules of Meiosis: Cell division in sexually reproducing
deoxyribonucleic acid (DNA), and smaller DNA organisms that reduces the number of
segments form genes. chromosomes in half in the reproductive cells, such
Genes: Contains instructions for making a particular as sperm, eggs, and spores.
type of protein.
Gene expression: occurs when these genetic - Egg and sperm cells are formed through the
instructions are converted into a feature of a living process of meiosis.
cell. - The parental chromosome pairs are divided in
half, leaving only one chromosome from each
Mitochondrial DNA (mDNA): pair in an egg or sperm cell.
- Some DNA is located in mitochondria, and all
- When the egg and sperm cells from the two
mDNA comes from the mother.
- mDNA is useful for evolutionary studies and parents combine, the resulting zygote once
forensic identification due to its regular mutation again contains the full complement of 23 pairs
rate. of chromosomes.
- A meiotic division results in two egg or sperm
Alleles and Blood Types: cells, each containing one set of 23
Alleles: Different phenotypical traits result from the chromosomes.
interactions between alternative versions of a
particular gene. Linkage: Genes that are physically located close to
- Individuals can have at most two alleles for a one another on the same chromosome are often
gene, but populations can have multiple versions. passed along to offspring as a group in a process.
- Blood type examples: A, B, AB, O, with
Crossing Over: A process occurring during meiosis
corresponding genotypes (AA, AO, BB, BO, AB,
OO). in which chromosomes exchange equivalent
segments of DNA material.
Mutations: A heritable alteration of genes.
- Mutations may occur in segments of DNA that
do not appear to influence phenotypical traits,
or a mutation may result in a recessive allele.
- Inheriting a dominant mutant allele or two
copies of a recessive mutant allele will affect an
organism’s phenotype.
- Homozygous: individuals have two identical
alleles for a gene. The Special Case of the Sex Chromosomes
-Heterozygous: individuals have two different - Most of the active genes on the Y
alleles.
chromosome are involved with male fertility.
- Recessive: alleles express their phenotype only
- whereas the X chromosome contains a wide
in a homozygous pair.
- Dominant: alleles express their phenotype variety of genes.
regardless of homozygous or heterozygous pairing. Sex-linked characteristics: result from genes on
the X chromosome that are not duplicated on the Y
Imprinted Gene:
chromosome.
- A gene of which only the mother’s or the
father’s copy is expressed, but not both in the X chromosome inactivation: The process by
normal Mendelian sense. which one X chromosome in each female cell is
- Approximately 1 percent of mammalian genes silenced to equalize the amount of proteins
are imprinted, meaning only one allele is
produced by males and females.
expressed.
- The lack of matching pairs for most genes
From Genes to Proteins on the sex chromosomes.
- Many genes on the X chromosome are not
- Genes are constructed from combinations of duplicated on the Y chromosome
four biochemicals known as bases or - Females could produce double the amounts
nucleotides: adenine (A), cytosine (C), guanine of some proteins compared to males.
(G), and thymine (T). (ACGT)
Extreme Skew: A result in some individuals who Neural Plate Formation:
have the silenced X from one parent in much greater - During the third week, cells in the ectoderm
numbers than the X from the other parent. differentiate into the neural plate.
- Extreme skewing is more common among - Inducing factors and genes influence cell
mothers who had given birth to gay sons (13%) differentiation.
than among mothers of heterosexual sons - Organizer region of the mesoderm plays a crucial
(4%). role in neural tissue formation.
Single Nucleotide Polymorphisms (SNPs):
Variation that occurs in a gene when a single base Spemann and Mangold Experiment:
is changed from one version to the next (Genetic - In 1924, Hans Spemann and Hilde Mangold
code differs in only one location). demonstrated inducing factors from the organizer
- A SNP occurs when a sequence of nucleotides region determine neural tissue formation.
making up one allele differs from the sequence - Transplanted cells from the organizer region
of another at just one point, such as AAGGTTA signal the host embryo to develop a second nervous
to ATGGTTA. system.
- The APOE SNP predicts a person’s risk for
Alzheimer’s disease, a degenerative, ultimately Ectodermal Cell:
fatal condition marked initially by memory loss. - Ectodermal cells can form neural tissue without
contact with other embryonic cells.
The Roles of heredity and Environment - Skin forms when ectoderm cells are exposed to
bone morphogenetic protein (BMP).
Heritability Concept: - Inducing factors from the organizer region can
- Heritability: measures how much variation in a block BMP, leading to neural tissue development.
trait within a population is due to genetic differences.
- Misunderstanding: Heritability applies to Neural Tube:
populations, not individuals. - As ectodermal cells differentiate, a groove forms
- Heritability allows the comparison of genetic along the midline of the neural plate.
influence across traits. - Cell divisions produce two ridges that join to form
- Heritability cannot be assessed without the neural tube.
considering the environment. - The interior of the neural tube becomes the
- Heritability is influenced by the range of ventricles and central canal of the spinal cord.
environments in a sample.
- In a homogeneous environment (affluent or Six Distinct Stages of Nervous System
socially deprived), differences are likely due to Development:
genetic influences. (1) Continued birth of neurons and glia.
- In a diverse environment, heritability of traits tends (2) Migration of cells to their eventual
to be lower. locations in the nervous system.
(3) Differentiation of neurons into distinctive
Twin Studies: types.
- Studies involving identical (monozygotic, MZ) and (4) Formation of connections between
fraternal (dizygotic, DZ) twins raised together or neurons.
apart are useful. (5) Death of particular neurons.
- MZ twins share the same genes, while DZ twins (6) Rearrangement of neural connections.
share about 50% of their genes.
- Both types of twins share a similar environment. The Formation of Neurons and Glia
- Neurons and glia originate from cells in the
Development ventricular zone, a layer lining the inner surface of
the neural tube.
Growth and Differentiation of the Nervous - Progenitor cells in the ventricular zone divide by
System mitosis, producing two identical daughter cells.
Developmental Stages:
- Zygote: The cell formed by the merger of egg and Cell Division and Thickening of Ventricular Zone:
sperm. - Initially, both daughter cells remain in the
- Embryo: From two to eight weeks following ventricular zone and continue dividing.
conception. - Continuous cell division thickens the ventricular
- Fetus: After the eighth week until birth. zone.

Germ Layers and Cell Differentiation: Differentiation and Migration (After the Seventh
- A week after conception, the zygote forms three Week):
germ layers. - Around the seventh week, some progenitors
- Ectoderm: Develops into the nervous system, produce a daughter cell that stays in the ventricular
skin, and hair. zone and another that migrates outward to become
- Mesoderm: Forms connective tissue, muscles, a neuron or glial cell.
blood vessels, bone, and urogenital systems.
- Endoderm: Develops internal organs, including Progenitor cells undergo different types of cell
the stomach and intestines. divisions:
- Cleavage Line Perpendicular to Surface:
Produces two additional progenitor cells.
 - Cleavage Line Parallel to Surface: Produces - Axons can sense the structure of the extracellular
an additional progenitor cell and a migrating cell. environment and prefer more adhesive surfaces.
- Daughter cell outside the ventricular zone is free
to migrate. Growth Cones and its Structure:
- Developing axons and dendrites end in growth
Cell Migration cones or swellings.
- Migration is not random but guided by specialized - Growth cones have sensory and motor abilities,
progenitor cells called radial glia. consisting of a three basic structural parts main
- Radial glia grow out from the ventricular layer to body (mitochondria, microtubules, and other
the outer margins of the nervous system, resembling organelles), filopodia (fingerlike extensions), and
spokes of a wheel. lamellipodia (flat, sheetlike extensions).
- Critical in guiding cell migration. - Filopodia and lamellipodia move, stick to the
- Retain the ability to produce additional environment, and contribute to axon or dendrite
daughter cells. growth.
- About two-thirds of migrating cells wrap around - Filopodia signal growth cones to move forward,
radial glia and move along them. backward, or turn.
- The remaining third moves in a more horizontal - Filopodia respond to attracting and inhibiting
direction. chemicals released by guidepost cells.
- After migration, most radial glia retract their
branches. Fasciculation and Cell Adhesion Molecules
- Cells forming the cerebral cortex migrate in an (CAMs):
inside-out manner. - Axons growing in the same direction often stick
- Cells destined for outer cortical layers traverse together through fasciculation.
through inner layers during migration. - Cell adhesion molecules (CAMs) on axon
- Migration time varies: a few hours for early surfaces cause them to stick together, as proceed in
migrating cells, up to two weeks for cells reaching the same direction.
the outermost cortex.
Formation of Synapses
Differentiation Neurotransmitter Determination:
Dorsal-Ventral Specialization: - At the sweat glands, which are relatively easy to
- The first differentiation process in the neural tube. study due to their peripheral location, mature
- Neurons in the ventral half become motor sympathetic axons release acetylcholine (ACh)
neurons, while neurons in the dorsal half become rather than their usual norepinephrine.
sensory neurons. - Studies on sweat glands show that exposure to
- Ventral motor system organization is controlled by chemical signals from target cells can induce a
sonic hedgehog proteins. switch in neurotransmitter release (e.g., from
norepinephrine to acetylcholine).
Rostral-Caudal Axis Differentiation:
- The second differentiation process along the Synapse Formation:
rostral-caudal axis of the neural tube. - Wiring the nervous system involves identifying
- Results in the division of the nervous system into appropriate postsynaptic cells, and both pre- and
the spinal cord, hindbrain, midbrain, and forebrain. postsynaptic structures must develop.
- The neuromuscular junction provides an
Hindbrain Differentiation: observable example of synapse formation.
- Differentiation of the hindbrain is controlled by
inducing proteins encoded by Hox genes. Neuromuscular Junction Observation:
- Hox genes: are expressed in different segments - Before contact with a motor axon, muscle fibers
of the hindbrain, leading to the development of have already formed receptors for acetylcholine
specific cranial nerve nuclei. (ACh), the neurotransmitter used at the
neuromuscular junction.
Midbrain Differentiation: - Initially, receptors are evenly distributed in the
- Midbrain lacks the same segmented organization muscle fiber membrane.
as the hindbrain. - Upon maturation, receptors cluster densely at
- Hox genes are not expressed in the midbrain to synaptic sites, rarely found in nonsynaptic areas.
the same extent as in the hindbrain.
Chemical Signaling and Receptor Movement:
Forebrain Differentiation: - A sequence of chemical releases by both
- Less known about the processes underlying presynaptic and postsynaptic structures stimulates
forebrain differentiation. the movement of receptors to the synaptic site.
- Processes similar to those controlled by Hox - Mutant strains of mice lacking essential
genes likely exist. presynaptic substances fail to develop normal
clustering of ACh receptors, often leading to death.
Growth Axon and Dendrites:
- Neurons form synapses by growing axons and - Muscle Fiber Signals:
dendrites. - Signals from the muscle fiber also influence the
- Guidepost cells along the route release development of the motor axon terminal.
chemicals that attract or repel growing axons. - Processes similar to the neuromuscular junction
are likely to occur in the brain and spinal cord,
although less is known about synaptic specialization Effect of Experience on Development
in these areas.
Plasticity in the Nervous System:
Cell Death - Throughout the lifespan, individuals retain the
- Apoptosis, or programmed cell death, is a ability to rearrange synaptic connections, known as
common process during development. plasticity.
- Plasticity: essential for learning and storing new
Nerve Growth Factor (NGF): memories. (The ability to change.)
- Cohen, Levi-Montalcini, and Hamburger (1954)
isolated nerve growth factor (NGF). Critical Periods:
- The first identified neurotrophin. - The time frame of plasticity is limited, referred to
- NGF is now known as one member of a class of as critical periods.
chemicals called neurotrophins. - Critical periods: A segment of time during
- Neurotrophins, including NGF, influence neuron development in which a particular experience is
survival by interrupting cellular suicide programs that influential and after which experience has little or no
lead to apoptosis. effect. (are windows of time during which changes in
- Neurotrophins inhibit caspase activity, preventing synaptic connections can occur.)
the breakdown of DNA and proteins and promoting
cell survival. Hebb Synapses:
- Synapses strengthened by simultaneous activity,
Cell Death Genes and Caspases: emphasizing the importance of correlated activity,
- All cells contain cell death genes that, when are often referred to as Hebb synapses.
activated, lead to apoptosis. - This concept was proposed by Donald Hebb in the
- Caspases: are enzymes activated by cell death 1940s.
genes, breaking up DNA and proteins and resulting
in cell death. Experience and the Visual System
- Maintains a balanced and properly functioning Human Visual System Development:
nervous system. - In the human visual system, input from the two
eyes initially remains separate in the lateral
Role of Neurotrophins: geniculate nucleus (LGN) of the thalamus and the
- Neurotrophic factors binding to neuron receptors primary visual cortex of the occipital lobe.
inhibit caspase activity, promoting cell survival. - During early development, LGN cells receive input
- Inadequate neurotrophin stimulation leads to the from both eyes without segregation.
expression of cell death genes, caspase activation, - Segregation occurs based on correlated activity,
and cell death. with the more correlated input being retained, and
- High concentrations of neurotrophins can lead to the less correlated input being weakened.
problems, highlighting the importance of apoptosis
in maintaining a balanced and functional nervous Ocular Dominance Columns:
system. - Similar processes take place as LGN axons reach
the primary visual cortex.
Synaptic Pruning: The process in which functional - Initially, LGN axons processing information from
synapses are maintained and nonfunctional both eyes are not segregated in the visual cortex.
synapses are lost. Which the number of functional - Ocular dominance columns, responding to one
synapses is reduced. eye or the other, eventually form through a process
influenced by simultaneous activity.
Myelination: myelination of the developing nervous
system follows both a structural and a functional Experience and Social Behavior
pattern of development. - Konrad Lorenz described imprinting, a
- Myelination occurs in a rostral direction starting phenomenon observed in several bird species.
in the spinal cord, followed by successive - Imprinting occurs when a newly hatched chick
myelination of the hindbrain, midbrain, and sees a specific object, often the first moving object it
forebrain. encounters, and treats it as its parent.
- Within the forebrain, myelination proceeds - Imprinting involves a critical period during which
simultaneously from inferior to superior and the experience modifies behavior.
from posterior to anterior.
- The sensory parts of the cortex appear to be
myelinated at an earlier time than the motor
parts of the cortex.
- The last area to be myelinated is the prefrontal
cortex, which is responsible for some of our
most sophisticated cognitive functions.
Disorders of Brain Developments Metabolic Disorders (Phenylketonuria (PKU):
- Account for approximately 3 to 7 percent of severe
Neural Tube Defects cases of mental retardation.
- Closing of the neural tube is a crucial part of - Phenylketonuria (PKU) is a well-understood
development. metabolic disorder.
- Two major types of neural tube defects are - PKU occurs in about 1 in 10,000 births, and 1 out
anencephaly and spina bifida. of every 50 people is a carrier.
- Results from a recessive gene causing a lack of
Anencephaly: liver enzymes needed to convert phenylalanine into
- Anencephaly involves the incomplete tyrosine.
development of significant portions of the brain and - People with PKU produce an abnormal byproduct,
skull. phenylpyruvic acid, damaging the brain early in
- Occurs when the rostral neural tube does not development.
develop properly. - Mental retardation can be prevented by avoiding
- Most fetuses with anencephaly either die in utero phenylalanine-containing foods until the mid-20s,
or do not survive more than a few hours after birth. including high-protein items like milk, dairy products,
meat, fish, chicken, eggs, beans, and nuts.
Spina Bifida:
- Spina bifida occurs when the caudal portion of the Environmental Toxins
neural tube fails to close normally. Fetal Alcohol Syndrome (FAS):
- Surgery is typically performed within the first 24 - Maternal alcohol use is a well-understood
hours of life to correct the condition. environmental cause of mental retardation.
- Most children with spina bifida experience - No known safe levels of alcohol use during
paralysis of the lower limbs, but with modern pregnancy; complete abstinence is strongly
treatment, individuals can live well into adulthood. encouraged.
- Efforts to repair spinal damage prior to birth might - Children with Fetal Alcohol Syndrome exhibit
be beneficial in many cases. various physical and cognitive abnormalities:
- Growth retardation.
Genetic Disorders - Skin folds at the corners of the eyes.
Down Syndrome (Trisomy 21): - Nose and mouth abnormalities.
- Characterized by having three copies of - Small head circumference.
chromosome 21 instead of the normal two. - Reduced IQ.
- Occurs approximately 1.5 times out of 1,000 - Increased likelihood of being diagnosed with
births. attention deficits, poor impulse control, and severe
- Major cause is abnormal division (disjunction) of behavioral problems.
the mother's twenty-first chromosome during - FAS has a lasting impact on the brain, affecting
meiosis. gray matter thickness and head circumference.
- Risk increases with maternal age, ranging from 1 - Alcohol can have direct effects on the developing
out of 1,000 births for mothers under 33 to 38 out of fetus, and maternal malnutrition and poor health may
1,000 for mothers over 45. also contribute indirectly.
- Individuals with Down syndrome typically function - Pregnant women who use alcohol are more likely
in the moderately retarded range of intellect, with IQs to use other drugs, and combinations of two or more
between 35 and 50. drugs can result in significant reductions in the
- Physical features include a small skull, large child's gray matter.
tongue, almond-shaped eyes, flat nasal bridge, and - Long-term effects persist, as seen in reduced gray
hand/finger abnormalities. matter thickness and head circumference in children
- Higher risk of heart deformities, contributing to exposed prenatally to multiple drugs at ages 10–13.
shorter life expectancy.
- Associated with a higher risk of Alzheimer's Redevelopment in Response to Damage
disease. - Damage to the cell body of a neuron results in
neural death, as the cell body is crucial for basic
Fragile-X Syndrome: cellular functioning.
- The most common heritable condition.
- Caused by the FMR-1 gene on the X chromosome Damage to an axon can have various outcomes:
having more than 200 repeats, leading to a fragile-X - Anterograde (forward) degeneration: The
condition. axon segment separated by the damaged area
- Affects about 1 in 1,500 to 2,000 males and 1 in deteriorates.
2,000 to 2,500 females. - Retrograde degeneration: The axon stub and
- Intellectual consequences vary from typical the cell body degenerate and die, particularly likely if
intelligence to moderate retardation. the damage is close to the cell body.
- Physical characteristics include low-set ears, a - The death of a neuron affects other neurons to
large forehead, and jaw. which it was connected, leading to transneuronal
- Males with the syndrome may show unusual degeneration in postsynaptic cells.
social withdrawal, but fewer than 5 percent meet - In the peripheral nervous system, damaged axons
formal criteria for autism. can regrow successfully, aided by the response of
Schwann cells that form a template for regrowth.
 - In the central nervous system, damage to - Protective role against stress: Adult neurogenesis
oligodendrocytes often results in scar tissue might protect the mature brain from the effects of
formation, inhibiting axon regrowth. stress.
- Proteins in the central nervous system do not
reactivate as effectively as those in the peripheral Alzheimer’s Disease
nervous system, leading to the perception that most Alzheimer’s Disease:
central nervous system damage is permanent. - Behavioral Symptoms:
- Begins with mild memory loss.
- Genetic Therapy: Preliminary research explores - Progression includes deterioration in problem-
using genetic therapy to encourage axon regrowth in solving, language, and social behavior.
the central nervous system. - Severe symptoms of hallucination and
- Nogo: Antibodies blocking Nogo, a substance delusional thinking.
that typically prevents mature axons from further - Basic life skills deteriorate, requiring supervision
sprouting, show promise in promoting axon and care.
regrowth. - Patients may become immobile and unable to
- Stem Cell Implantation: Implantation of stem speak before death.
cells is being explored as a treatment for central
nervous system damage. Neural Degeneration in Alzheimer’s Disease:
- Neurofibrillary Tangles:
The Adult Nervous System - Characteristic pattern in Alzheimer’s disease.
Two Waves of Gray Matter Development: - Result from the detachment of the tau protein,
- Previous beliefs suggested that the majority of disrupting microtubule structure.
human brain development occurs prenatally and up - Tau detachment possibly influenced by
to 18 months of age. amyloid.
- Imaging technologies reveal a second wave of
gray matter development and pruning beginning at Amyloid:
puberty. - Contributes to tau detachment and cell
- Thickening of the cortex peaks around age 11 for structure disruption.
girls and age 12 for boys, followed by a gradual - Forms plaques on axons and within blood
thinning. vessels.
- This growth, particularly affecting the frontal - Amyloid precursor protein (APP) involved, with
lobes, influences teen abilities related to planning, a particular form called ADDL implicated in
impulse control, and reasoning. Alzheimer's.
- Schizophrenia is associated with four times the - ADDLs can interfere with learning and memory.
typical thinning of gray matter during this second - Pattern of Damage:
major period of pruning. - Posterior cingulate cortex shows early
changes.
Brain Maturation and Aging: - Initial memory impairment due to hippocampal
- The human brain is considered to reach full and temporal lobe deterioration.
maturity by the age of 25. - Cognitive symptoms (language, problem-
- Minimal changes occur until around the age of 45 solving) from damage to association areas of the
when the brain's weight starts decreasing cortex.
significantly. - Emotional changes linked to affected limbic
- Aging does produce mild changes in speed of system structures.
learning and problem-solving, occurring rather late - Neuron death leads to transneuronal
in life for most individuals. degeneration, spreading deterioration.
- Cognitive decline varies widely among individuals,
influenced by genetic and lifestyle factors. Onset and Risk Factors:
- Higher intelligence is associated with a lower - Typically occurs after age 70, but potential signs
likelihood of being diagnosed with degenerative may be apparent earlier.
conditions like Alzheimer's disease. - A study on nuns suggests a correlation between
- Intelligent individuals tend to experience a slower early writing ability and the likelihood of Alzheimer’s
decline even with a degenerative condition, possibly disease.
due to factors such as a larger number of brain cells, - The E4 variant of the APOE gene is associated
financial security, healthier lifestyles, and continued with late-onset Alzheimer’s disease.
intellectual activity. - Genetic mutations in genes responsible for
- Leisure activities and intellectual engagement removing amyloid plaques can also lead to
throughout life play a role in maintaining brain health. Alzheimer's.
"Use it or lose it" seems to be a guiding principle for
brain function. Treatment:
- No effective treatments for reversing Alzheimer’s
Neurogenesis in Adulthood disease.
- Neurogenesis, or the formation of new neurons, - Decrease in cholinergic activity is a
was thought to be complete at birth in mammals. characteristic; medications boosting acetylcholine
- Neurons associated with the sense of smell were levels may slow progression but not reverse existing
considered capable of regeneration. damage.