Genetics, Development, and Neuroplasticity Flashcards
(53 cards)
Define what a gene is. Define what an allele is.
gene = a section of DNA containing information used to build a protein (ex: eye color, blood type, skin color)
allele: variant of a specific gene (blue eyes, green eyes, type A blood, black skin, white skin)
Understand that DNA holds instructions for making proteins
DNA sequence of a gene determines the amino acid sequence for the protein it encodes
DNA builds proteins —> DNA contains genes —> gene sequences form amino acids —> amino acids link together to form long chains —> chains of amino acids = proteins
—> traits determined the function of proteins, which is determined by structure, which is determined by amino acid sequence
(which is determined by genes found in DNA)
DNA—>builds protein
Describe different types of allelic variants (insertions, deletions) and broadly what
effects they might have
Can be insertions:
add one extra base
GGCTATTCC —> GG[CCG]GTATTCC
Can be deletions:
remove one base
GGCTATTCC —> GGCTCC
Can lead to changes in the proteins that are created
or changes in the switches that control when/where a protein is active and how much protein is made
—> frameshift mutation: can change ever amino acid that follows the point of mutation — altering a protein so much that it can’t perform normal functions
Explain how optogenetics works, based on your understanding of genetics
Optogenetics uses light-gated channels
light-sensitive protein from algae —> insert the DNA into specific neurons in the brain —> neuron firing functions on the opening and closing of ion channels —> now they can fire just on light
Explain why it’s probably not useful to say, there’s a gene for ______ [some behavior] or
[some psychiatric disorder] or [some trait].
most human traits are influenced by so many genes that there is no likely systematic cause and effect
nature vs. nurture:You inherit genes from your biological parents that determine your eye color, but do you inherit genes that determine your behavior and personality?
Describe what Williams Syndrome is – what causes it, what the symptoms are, findings related to hypersociality and amygdala activity, why it’s a particularly interesting case to understand connections between genes/brain/behavior
deletion of chromosome 7
(removing 20+ genes that encode for different functions)
PHSYICAL EFFECTS: specific facial characteristics, dental abnormalities, heart problems, differences in growth patterns
COGNITIVE EFFECTS: poor memory, learning difficulties, low IQ, poor visuospatial skills
BEHAVIORAL EFFECTS: hyper-sociality, affinity for music
—-
people with WS show less activity in the amygdala in response to fearful faces
—> greater likelihood of approaching strangers in
WS associated with less amygdala activity
Explain the findings regarding short vs. long alleles for the gene that codes for the serotonin transporter and depression
Different alleles for the gene that codes for serotonin transporter
“Short” alleles produces less mRNA, creating fewer serotonin transporters
“Long” allele produce more mRNA, leading
to more serotonin transporters
People with at least one copy of the short allele
exhibited more depressive symptoms in relation to
stressful life events than those with the l/l alleles
Explain what is meant by gene expression
If all cells contain the same DNA, how is it that we
have such a great diversity of cell types?
Gene expression: A gene is “turned on” and
produces a protein
Differential gene expression makes cell types
different – in development and in adulthood
—> in every cell, biological machinery constantly translates DNA into the proteins needed to carry out vital processes
—> chemical switches attached to the DNA turn genes on or off, telling the DNA to produce certain proteins at certain quantities
—> these proteins are called epigenetic tags, cells contain the same DNA but express different traits
Define what genotype and phenotype are
Genotype: genetic makeup of an organism
• Phenotype: traits of an organism
• Phenotypic variation: organisms differ in their traits
and behavior
Explain the two sources of information that DNA contains
DNA holds two sources of information: sequence and structure
The DNA sequence (or genome, e.g.,
CATTGGATTCCGGA…) —> generates proteins
The DNA structure (or epigenome) —> serves as an
“on/off” switch for gene expression
Provide evidence discussed in class of gene x environment interactions
gene-environment interaction occurs when the effect of an environmental exposure on health and behavior is conditional upon a person’s genotype
Phenotype is the product of gene x environment
interactions: Gene x Environment —> Phenotype
interaction of gene in environment
ex: DRD2 can’t break down alcohol —> genetic predisposition of addiction
Explain the meaning behind the analogy that our DNA is like books in a library
like a library, DNA has different sections (chromosomes), each section has lots of books (genes), each book contains instructions for something
Define and explain what epigenetics and epigenetic mechanisms
DNA methylation: methyl groups “silence” genes
Histone modification: makes DNA less readable by
not allowing it to unwind
Demonstrate a thorough understanding of the series of studies associated with the Agouti mouse, i.e., what happens in the primary study where we look at how changes in methylation affect expression of the mutation on the agouti gene, but also understand
what happens when pregnant mice with these mutations are exposed to BPA and to nutrient-rich diets.
—> mutation of Agouti gene (insertion)
—> mutation leads to a variety of phenotypic changes (yellow coats and prone to obesity, diabetes, and cancer)
But methylation can “silence” the expression of this mutation
—> the mice have the agouti gene mutation, but it’s not expressed; they’re as healthy as mice without the mutation
Greater number of yellow, unhealthy pups were born to pregnant mothers exposed to BPA
—> maternal exposure to BPA decreased DNA
methylation in offspring
Pregnant mothers exposed to BPA
• Greater number of yellow, unhealthy pups were born
• Maternal exposure to BPA decreased DNA
methylation in offspring
But BPA + a nutrient-rich diet (folic acid, soy products): —>had more brown, healthy pups —>maternal nutrient supplementation can counteract negative effects of BPA exposure
Provide examples of some sources of epigenetic variation
factors affecting epigenetic variation: stress, drug use, social interactions, pesticides, smoking, hormones, nutrition
Understand that rearing behavior can affect pups epigenome and lead to differences in anxiety levels
Nurture shapes rat pup’s epigenome
- Pup raised by anxious, low-nurturing mom —>anxious adult
- Pup raised by relaxed, high-nurturing mom —>relaxed adult
Discuss why it is somewhat silly to talk about nurture vs. nature, and especially so given what we know now about epigenetics
in addition to nature and nurture, what makes us who we are is also determined by biological mechanisms that can switch genes on or off
both genetic and subject to environmental influences —> so both!
Explain why it’s valuable to study the astronaut twins.
helps us to better understand how nature and nurture work together
Provide examples of experience-independent, experience-expectant, and experience-dependent
aspects of development and explain why you’d categorize these examples the way you did.
EXPERIENCE-INDEPENDENT: parts of brain = preprogrammed
—-> ex: babies born with reflexes, baby calfs can walk after exiting womb
—-> chemoaffinity hypothesis: axons have pre-specified targets independent from experience (Sperry’s newt experiment)
EXPERIENCE-EXPECTANT: during sensitive period, the brain “expects” to be exposed to experiences such as visual content, sound (voices), and bodily movement; evolution has conditioned brain to expect these stimulating experiences —> needed to activate synapses involved in sensory perception and health brain development
—-> synaptogenesis (formation of synapses) (visual cortex—>prefrontal cortex development) (sensory pathways—>language—>higher cognitive functions)
—-> ex: newborns need to have visual input to develop healthy sight perception
EXPERIENCE-DEPENDENT: Neural connections that form in response to a person’s life experiences — different life situations and circumstance influence how certain areas of the brain develop and continue to grow.
—-> ex: eskimo child knowing how to build igloo
—-> ex: enriched vs. deprived rat environments: animals raised in a complex and engaging environment have more dendrite development and more overall synapses than do animals who are raised in an environment with no stimulation
—-> ex: Held & Hein cats: raised cats in total darkness —> 1hr/day, kittens exposed to light —> one cat was able to walk, the other placed in box and moved around cylinder —> only the kitten who controlled its own motor movements (thus learning the proper relationship between action and visual feedback from the world) developed normal vision —> SHOWED NEURONAL NETWORKS ARE DEPENDENT ON EXPERIENCE (REQUIRE INTERACTION WITH WORLD) IN ORDER TO PROPERLY DEVELOP
Describe in very broad strokes the course of human brain development in utero; I’m posting the HHMI video
Prenatal period:
• 3 weeks gestation: brain and nervous system begin
to develop
• 4 weeks gestation: see major regions of the brain
• 6 months gestation: see gyri & sulci
results, and significance of Sperry’s experiments on newts
goal: how much of the brain is hardwired?
why each nerve fibre has a pre-assigned address?
—> so he cut the optic nerve of an adult newt and rotated its eyeball upside down (nerve fibers regenerate in amphibians)
—> WOULD FIBRES FROM THE EYE GROW BACK INTO THEIR ORIGINAL ORIENTATION IN THE OPTIC TECTUM OR WOULD THEY TWIST AROUND TO MATCH THE WORLD
when the fibres regrew, they plugged into their original pattern
—> led Sperry to conclude that the fibres do not find their destinations by visual experience, but instead by preprogrammed signaling
IN SPERRY’S CHEMOAFFINITY HYPOTHESIS: EACH INCOMING AXON MAKES A CONNECTION WITH THEIR TARGET BASED ON SPECIFIC CHEMICAL SIGNALS RELEASED BY THE TARGET
Explain how plasticity changes over the course of the lifetime
Explain why a two-year-old has more synapses than an adult
tradeoff between plasticity/flexibility and efficiency
Brain is most plastic (flexible) early in life; over
time, it gets more specialized for complex functions
and reorganization/adaptation is harder.
—>young brains: generalized activity without attentional focus; many cholinergic transmitters but not inhibitory ones —> allow for global change —> babies = R&D department
—>adult brains: attention causes widespread cholinergic release, which allows for changes in tissue—this is counterbalanced with inhibition in areas that should not change
Explain graphs depicting different rates of synaptogenesis and pruning for brain areas
involved in different functions
cortical development
pathway development
gray vs. white matter
synaptogenesis (formation of synapses)
- visual cortex—>prefrontal cortex development (prefrontal and lateral temporal cortices are the last to mature) —> [front to back pattern]
- sensory pathways—>language—>higher cognitive functions
- Gray matter volume peaks in teenage years
- White matter volume increases into adulthood
-newborn-2 yrs: synapses formation
4-6 years: synapse pruning
WHY? —> need basic survival skills before critical thinking skills : reduction of synapses leaving more efficient synaptic configurations —> pruning influenced by experience “you use it or you lose it”
Explain how autism spectrum disorder might be conceptualized in part as associated
with differences in synaptic connections
Autism is associated with alterations in synaptic connections
—-> too many, too few, too strong, too weak synapses or in wrong place
—> excitatory and inhibitory synapses = abnormal balance (too many synapses=excitatory=overstimulation, too few=inhibitory=understimulation)
balance between inhibitory and excitatory synapses is thought to be important for establishing critical periods
infants with ASD experienced “hyperexpansion” of brain’s surface in first year of life and subsequent rise in brain volume