Genotype, Phenotype & Development

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Questions and Answers

Which of the following best describes the relationship between genotype and phenotype?

  • Genotype and phenotype are interchangeable terms describing an individual's physical characteristics.
  • Genotype is the observable expression of genes, while phenotype is only the genetic material inherited.
  • Phenotype determines genotype, with environmental factors reversing the direction of genetic influence.
  • Genotype is the inherited genetic material, and phenotype is its observable expression, influenced by the environment. (correct)

The 'norm of reaction' suggests that a given genotype will always result in the same phenotype, regardless of the environment.

False (B)

What is the primary function of genes in the context of protein production?

Genes produce proteins or regulate protein production.

__________ refers to the study of how environmental factors can affect gene expression without altering the DNA sequence itself.

<p>Epigenetics</p> Signup and view all the answers

Match the following genetic disorders with their mode of inheritance:

<p>PKU (Phenylketonuria) = Recessive gene Huntington's Disease = Single dominant gene Fragile-X Syndrome = Sex-linked inheritance</p> Signup and view all the answers

Which of the following scenarios best illustrates the concept of 'nonshared environment' in the context of development?

<p>Siblings who have different friends, teachers, and unique experiences outside of their family environment. (A)</p> Signup and view all the answers

Heritability estimates the degree to which individual differences in a specific population are due to environmental factors.

<p>False (B)</p> Signup and view all the answers

Briefly describe how spatial layering contributes to cell migration during nervous system development.

<p>New cells push older cell out as they develop and migrate.</p> Signup and view all the answers

The stage of nervous system development involving the formation of connections between neurons is known as ________.

<p>synaptogenesis</p> Signup and view all the answers

Match the stage of nervous system development with its description:

<p>Cell production = Neurogenesis Synapse formation = Synaptogenesis Cell death = Apotosis Synapse rearrangement = Synaptic pruning</p> Signup and view all the answers

Which of the following best describes the primary focus of behavior genetics?

<p>Investigating how variations in behavior and development arise from the interaction of genes and environment. (D)</p> Signup and view all the answers

According to the examples provided, the 'Aggression gene' directly leads to aggressive behavior by increasing nitric oxide production in the brain.

<p>False (B)</p> Signup and view all the answers

In the context of linking genes and behavior, what is one major challenge that needs to be addressed?

<p>Understanding the interaction of levels between genes and behavior over developmental time</p> Signup and view all the answers

In family studies, researchers investigate whether the correlation in a trait is higher among individuals who are genetically more ________ or who share the same ________.

<p>similar, environment</p> Signup and view all the answers

In the gene example from the content, what organ is affected by the CF-gene?

<p>Lungs (D)</p> Signup and view all the answers

What is the primary comparison made in twin studies to assess the genetic contribution to a trait?

<p>Comparing the trait in monozygotic twins versus dizygotic twins. (A)</p> Signup and view all the answers

According to the content, traits of interest in behavior genetics are typically determined by a single gene.

<p>False (B)</p> Signup and view all the answers

Match the gene/protein malfunctions with their associated behaviors according to the framework provided:

<p>CF-gene underproduction = Sick Novelty-seeking gene build-up of dopamine receptors = Thrill-seeking behaviors Aggression gene failure to produce nitric oxide = Aggressive behaviors</p> Signup and view all the answers

Which of the following describes the general pattern of gray matter development in the brain?

<p>Early overproduction followed by pruning. (D)</p> Signup and view all the answers

Experience-dependent plasticity refers to brain changes that occur independently of any external input or experience.

<p>False (B)</p> Signup and view all the answers

What is the significance of sensitive periods in the context of experience-expectant plasticity?

<p>optimal development</p> Signup and view all the answers

__________ plasticity refers to the process through which normal brain wiring occurs as a result of general experiences that almost all humans will have.

<p>Experience-expectant</p> Signup and view all the answers

Match the brain area with its typical order of pruning during development:

<p>Perceptual and motor areas = First to be pruned Spatial orientation and language areas = Second to be pruned Higher cognition and executive function areas = Last to be pruned</p> Signup and view all the answers

In the Merzenich & Jenkins owl monkey experiment, what was the primary intervention used to study experience-dependent plasticity?

<p>Providing extra stimulation to specific fingers. (A)</p> Signup and view all the answers

According to the material, if one hemisphere is damaged during childhood, the functions of that hemisphere can potentially be taken over by the other hemisphere.

<p>True (A)</p> Signup and view all the answers

What is a key characteristic of neurons, as suggested by the research?

<p>Neurons are very flexible and can be influenced by experience. (A)</p> Signup and view all the answers

What are the primary factors that influence cell differentiation?

<p>Parent cells, location, and chemical signals. (A)</p> Signup and view all the answers

During synaptogenesis, each neuron forms only one synapse with another cell to ensure specificity.

<p>False (B)</p> Signup and view all the answers

What are the two main reasons why cell death occurs during neural development?

<p>Lack of nutrients and lack of activity</p> Signup and view all the answers

Synapses that are not ______ are 'pruned' or lost during synapse rearrangement.

<p>active</p> Signup and view all the answers

Which of the following best describes synapse rearrangement after cell death?

<p>Remaining cells make new synapses to compensate. (B)</p> Signup and view all the answers

How do different cortices/lobes contribute to brain function?

<p>Different lobes serve different functions with massive interconnections. (C)</p> Signup and view all the answers

Match the following processes with their descriptions:

<p>Cell differentiation = Process by which cells specialize into specific types. Synaptogenesis = Formation of synapses between neurons. Synapse rearrangement = Modifying synaptic connections through pruning or new synapse formation. Cell death = Elimination of unnecessary or inactive cells.</p> Signup and view all the answers

Provide an explanation of how changes in neural development may relate to changes in behavior.

<p>The development of neural pathways, including synapse formation and rearrangement, underlies the potential for changes in behavior as the brain adapts to internal and external stimuli. Cell death and synapse pruning refine these pathways as the brain matures.</p> Signup and view all the answers

Flashcards

Genotype

An individual's inherited genetic material.

Phenotype

The observable expression of the genotype, including body characteristics and behavior.

Environment

Every aspect of an individual and their surroundings, excluding genes.

Norm of Reaction

All the possible phenotypes resulting from a genotype interacting with all possible environments.

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Genes' Primary Function

Genes primarily produce proteins or regulate the protein production of other genes.

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Dizygotic Twins

Twins from two separate eggs, sharing about 50% of their genes, like regular siblings.

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Heritability

The proportion of variance in a trait due to genetic differences in a population.

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Shared Environment

Environmental factors experienced similarly by siblings in a family.

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Nonshared Environment

Environmental factors unique to an individual, not shared with siblings.

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Neurogenesis

The creation of new neurons through cell division.

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Gene-Behavior Links

The sequence is Gene -> Protein -> Organ -> Behavior. An example is the CF-gene leading to mucus buildup in lungs, resulting in sickness.

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Examples of Gene-Behavior Links

Genes influencing thrill-seeking through dopamine receptors, or aggression through nitric oxide production (in rats).

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Challenges in Linking Genes and Behavior

Many genes are involved to influence behaviour and how these interactions change over time.

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Behavior Genetics

Examines how differences in behavior and development arise from gene-environment (GxE) interactions.

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Multifactorial Traits

Most traits are influenced by multiple genes, each contributing a small effect, plus environmental factors.

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Family Studies

Examines traits among individuals with varying degrees of genetic relatedness.

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Family Studies Question

In family studies, higher correlation of a trait is looked for in individuals who are genetically similar and/or share the same environment

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Twin-Study Designs

Comparing trait correlations between identical (monozygotic) and fraternal (dizygotic) twins.

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Neural Pruning

The brain undergoes an initial period of overproduction of neural connections, followed by a phase of pruning to refine and strengthen essential pathways.

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Brain Plasticity

The brain's capacity to reorganize its structure and function in response to external inputs and experiences.

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Experience-Expectant Plasticity

Brain development that occurs as a result of normal experiences that every human has.

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Sensitive Period

A period during development when the brain is especially sensitive to specific environmental inputs.

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Experience-Dependent Plasticity

Brain development that occurs as a result of unique experiences that individuals have.

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Somatosensory Cortex Plasticity

Changes in the organization of the brain due to repeated stimulation.

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Uneven Brain Pruning

Brain areas mature at different rates, with perceptual and motor areas maturing before higher cognitive function areas.

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Neuronal Competition and Selection

Neurons adjust flexibly based on usage; unused connections weaken, while frequently used connections strengthen.

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Glial Rail

Guiding neuronal migration during brain development.

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Cell Differentiation

Process where cells specialize into specific types, influenced by parent cells, location, and chemical signals.

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Synaptogenesis

The formation of synapses, where cells elongate axons to connect with other cells.

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Cell Death (Apoptosis)

Not all cells survive; those lacking nutrients or activity may die.

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Synapse Rearrangement

After cell death, remaining cells form new synapses; inactive synapses are pruned.

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Cortical Specialization

Different lobes of the brain perform different functions.

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Cortex

The brain's outer layer, divided into lobes with specific functions.

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Brain Lobes

Frontal, Parietal, Temporal and Occipital.

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Study Notes

  • Three key elements of the model of interaction:

Genotype

  • The genetic material inherited by an individual

Phenotype

  • The observable expression of that genotype
  • Includes body characteristics and behavior

Environment

  • Everything surrounding the individual excluding genes

  • Genes produce proteins and start/stop protein prodution of other genes, known as regulatory genes

  • There are over 5,000 known human diseases and disorders due to genetic origins

  • Recessive genes associated with PKU, sickle-cell anemia, cystic fibrosis

  • A single dominant gene is related to Huntington's disease

  • Sex-linked inheritance is related conditions of Fragile-X syndrome and hemophilia

  • Neurodivergent phenotypes have a genetic basis, but the specific genetic mechanism is not established such ADHD, Bipolar disorder, Tourette's Syndrome, and Autism

  • To understand what genes and proteins contribute to behavioral development, it is important to specify how the genes link to behavior

  • Genes link to proteins, but then need to understand how proteins link to behavior

  • One clear instance of how genes link to behavior is found in genes linked to behavioral development across differing levels

CF-Gene Example

  • Underproduction of protein leads to an organ effect of build up of mucus in the lungs, leading to sickness/disease
  • Other examples attempt to link genes and behavior

Novelty Seeking Example

  • A novelty seeking gene will lead to a build-up of dopamine receptors, which can cause excitability in the cortical areas, leads to thrill seeking or "approach" behaviors.

Disrupted Aggression Gene Example

  • A disrupted aggression gene causes a failure to produce nitric oxide (neurotransmitter) that leads to a failure to inhibit brain areas involved in aggression, this can lead to aggressive behaviors
  • Most of these conditions are often polygenic
  • Challenges remain in linking genes and behavior

Important Aspects of Genes and Proteins

  • Clearly tied to some diseases
  • Clearly part of the basic machinery of life
  • Need a better understanding about the "levels" between genes and behavior and their interaction
  • The explanations of how gene-protein-organ-behavior links play out over developmental time are needed

Behavior Genetics

  • How variation in behavior and development results from gene and environment interactions.
  • Most traits of interest include multiple factors

Behavior Genetic Studies

  • Trait should be measured in people who vary genetic relatedness
  • Look for higher correlations measures of traits for individuals who are genetically more similar and those who share the same environments

Twin Studies

  • Correlations found on a trait of interest
  • Compare monozygotic vs. dizygotic twins

Adoption Studies

  • Determines whether adopted children are more like their biological relatives, or more like there adopted relatives

Heritability

  • A statistical estimate of the proportion of the measured variance on a given trait among individuals given population that is attributable to the genetic differences among those individuals

Shared vs. Nonshared Factors

  • Shared environment is growing up together in the same family
  • Nonshared environment includes experiences unique to the individual

Nervous System, Brain and Behavior

Stages of Neural Development

  • Cell production (proliferation)
  • Cell migration
  • Cell differentiation
  • Synapse formation (synaptogenesis)
  • Cell death
  • Synapse rearrangement (synaptic pruning)

Neural Development - Cell Migration

  • Spatial Layering where new cells push old cells out, or new cells migrate to the outside
  • Chemical signals help to guide migration
  • Glial rail, where cells ride glial fibers to migrate

Neural Development - Cell Differentiation

  • Depends on parent cells, location and chemical signals

Neural Development - Synapse Formation

  • Cells elongate at their axons to form connections (synapses) with other cells
  • Each cell may form multiple synapses

Neural Development - Cell Death

  • May be a result of cell overproduction
  • Cells that don't receive nutrients may die
  • Inactive cells may die

Neural Development - Synapse Rearrangement

  • Post cell death - remaining cells make new synapses
  • Synapses that are inactive will be pruned - or lost

Higher Brain Functions

  • Frontal lobe is involved in executive functions.
  • Parietal lobes in spatial processing.
  • Temporal lobes in memory.
  • Occipital lobes in visual processing.
  • Primary motor cortex controls voluntary movements.
  • Primary somatosensory cortex processes tactile information.
  • Primary visual cortex processes visual information.
  • Primary auditory cortex processes auditory information.
  • Primary olfactory cortex processes olfactory information.
  • Cortices/lobes have different functions, but are interconnected

Neural Development and Behavior

  • Changes in the 6 stages of neural development provide global constraints on how experience can shape the brain
  • Changes can be observed in changes in grey matter= the 'working' tissue in cortex
  • Early over production of connections, followed by pruning later on in development

Experience and the Brain

  • The brain shows amazing plasticity or flexibility even with global constraints
  • Experience-expectant plasticity and experience-dependent plasticity

Experience-Expectant Plasticity

  • The process through which the normal wiring of the brain occurs in part as a result of the general experiences.

A Key Component is Vulnerability

  • Vulnerability means if the expected experience is not available, development will be impaired.
  • Sensitive periods of timing are key
  • Specific examples are found the somatosensory cortex
  • Results suggest experience-dependent competition and selection

Experience-Dependent Plasticity

  • Neurons are very flexible
  • The left hemisphere is active for language, the right hemisphere can be active for language if the left hemisphere is damaged in childhood
  • Experience matters in neural development

Brain Plasticity

  • Allows potential for recovery after brain damange
  • Recovery depends on the extent of the damage, as well as which aspect of that brain is developing at the time of damage
  • Bad timing for brain damage is during prenatal development during neurogenesis and neural migration
  • Decent timing for brain damage is during infancy/early childhood synaptogensis and pruning

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