exam 2 Flashcards

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1
Q

Heritabilities

A

proportion of observed variation in a particular trait, such as height or intelligence, that can be attributed to genetic variation among individuals in a population

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2
Q

Breeding value

A

a concept commonly used in animal and plant breeding to quantify the genetic merit of individuals for a particular trait

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3
Q

Additive genetic variance

A

component of genetic variance that arises from the additive effects of alleles at different loci (gene locations) within the genome.

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4
Q

narrow sense heritability

A

often denoted as ℎ2 , is a specific measure of the heritability of a trait that focuses solely on the additive genetic variance relative to the total phenotypic variance.

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5
Q

broad sense heritability

A

is a measure of the total genetic contribution to the phenotypic variance of a trait, including additive genetic variance (Va ),

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6
Q

What is a Genotype by Environment Interaction?

A

refers to the phenomenon where the effect of genetic differences among individuals (genotypes) on a particular trait varies depending on the environment in which those individuals are raised or tested

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7
Q

What species was the SAC locus first discovered in? By what genetic method?

A

The SAC (Suppressor of Aleurone Color) locus was first discovered in maize (Zea mays). It was identified through genetic analysis, particularly through classical genetic methods such as genetic crosses, linkage mapping, and analysis of phenotypic traits.

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8
Q

What is the human form of the SAC locus? (gene name)

A

RARA (Retinoic Acid Receptor Alpha) gene.

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9
Q

What is the name of the bitter receptor gene thought to be the PTC locus?

A

TAS2R38

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10
Q

What are the three most common haplotypes found in humans at the PTC locus and which is the one thought to be the primary non-taster allele?

A

PAV (Proline-Alanine-Valine)
PRIMARY: AVI (Alanine-Valine-Isoleucine)
AAV (Alanine-Alanine-Valine)

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11
Q

Are there more bitter receptor genes or sweet receptor genes?

A

Bitter

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12
Q

What gene in cats is thought to be a pseudogene that is the reason that cats appear to not have a “sweet tooth”?

A

TAS1r2

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13
Q

Approximately how many olfactory receptor genes are thought to exist?

A

It’s estimated that humans have around 400 to 800 functional olfactory receptor genes

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14
Q

Which gene products make up the umami receptor molecule?

A

heterodimeric protein complex composed of two subunits: TAS1R1 and TAS1R3.

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15
Q

Which gene products make up the “sweet” receptor?

A

heterodimeric protein complex composed of two subunits: TAS1R2 and TAS1R3.

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16
Q

Have a general idea of how the “mis-expression” studies of Mueller and others help resolve
the question of how the sweet and bitter modalities are encoded and how it supported the
“labeled line” theory.

A

mis-expression studies support the idea that specific taste qualities are encoded by distinct populations of taste receptor cells with dedicated molecular machinery for detecting and transducing specific taste stimuli. This evidence aligns with the labeled line theory, which posits that taste perception is mediated by the selective activation of these specialized taste receptor cells in response to different taste stimuli.

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17
Q

Are there more olfactory receptor genes than taste receptor genes? Rough numbers?

A

-Yes there are more olfactory receptor genes than taste receptor genes
-400-800 olfactory receptor genes
-only a few dozen taste receptor genes

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18
Q

Why are there more olfactory receptor genes than taste receptor genes?

A

-olfactory receptor genes hold more evolutionary importance/Olfaction plays a crucial role in survival-related behaviors such as finding food, avoiding predators, and detecting environmental cues. Therefore, organisms have evolved a vast array of olfactory receptors to detect and discriminate among a wide variety of odorants.

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19
Q

Dizygotic twins (fraternal)

A

-two seperate eggs fertilized by two seperate sperm cells
-share 50% genetic material, like normal siblings

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20
Q

Monozygotic twins (identical)

A

-single fertilized egg that splits into two embryos (one sperm cell)
-genetically identical, sharing 100%

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21
Q

Which type of twinning is partly heritable? How do we know?

A

-Monozygotic twins
-women who have a family history of monozygotic twinning are more likely to have monozygotic twins themselves compared to women without such a family history.

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22
Q

Are twins such a special type of individual that they do not make a good model for general
inquiries into behavioral phenotypes?

A

-can indeed be valuable models for studying behavioral phenotypes and various aspects of human biology
-they are used to investigate the contributions of genetic and environmental factors

23
Q

Placenta membrane and placenta structures of monozygotic

A

1/3 are dichorionic,diamnionic
2/3 are monchorionic,diamnionic

24
Q

Placenta membrane and placenta structures of dizygotic

A

All are dichorionic, diamnionic but some have fused placentas

25
Q

What was the conclusion regarding their evaluation as a contributing factor to cognitive test score resemblances?

A

MZ’s are substantially more similar on both cognitive and personality tests than DZ’s even if they are reared thinking that they were the opposite zygosity

26
Q

What is the equal environments assumption?

A

It posits that the environments experienced by identical (monozygotic) twins are no more similar than those experienced by fraternal (dizygotic) twins or non-twin siblings.

27
Q

How do the zygosity mislabeling studies provide a way to evaluate this assumption?

A

by examining whether the similarity of identical twins in a trait differs depending on their perceived zygosity (whether they are believed to be identical or fraternal twins).

28
Q

What is a genotype-environment correlation?

A

reflects the extent to which genetic factors influence exposure to certain environments or experiences.

29
Q

Passive Genotype-Environment Correlation

A

This occurs when parents provide both genes and environmental influences to their children.

30
Q

Evocative Genotype-Environment Correlation

A

This occurs when an individual’s genetically influenced traits evoke or elicit particular responses from their environment

31
Q

Active Genotype-Environment Correlation

A

This occurs when individuals actively seek out or create environments that are compatible with their genetic predispositions.

32
Q

genotype-environment correlation with child development

A

provides a nuanced understanding of the complex interplay between genetics and environment in shaping developmental outcomes.

33
Q

trinucleotide repeats

A

specific sequences of three nucleotides (the building blocks of DNA) that are repeated multiple times in a row within a gene.

34
Q

What is a premutation?

A

an expansion of repeat sequences that is larger than typically found in the general population

35
Q

What is the genetic association methodology?

A

refers to the set of statistical and experimental techniques used to investigate the association between genetic variants (such as single nucleotide polymorphisms, SNPs) and phenotypic traits or diseases in populations.

36
Q

Review how it was applied in the KIBRA gene study

A

investigated the association between genetic variants in the KIBRA gene and human memory performance, specifically episodic memory, which involves the ability to recall specific events and experiences.

37
Q

From the Henderson Diallel cross study with mice, was the proportion of variation accounted
for by environmental enrichment smaller or larger (and how much) than additive variation?

A

the proportion of variation accounted for by environmental enrichment was smaller than the proportion accounted for by additive genetic variation.

38
Q

What neurotransmitter
system is central to the action of CAMKii?

A

glutamatergic system

39
Q

What are de Novo mutations?

A

genetic alterations that occur for the first time in a germ cell (sperm or egg) of one of the parents or in the fertilized egg itself, rather than being inherited from either parent.

40
Q

Hauser, Chomsky and Fitch argued that which type of language component is uniquely human?

A

RECURSION
Recursion refers to the ability to embed one linguistic structure within another of the same type

41
Q

What is a spandrel?

A

trait or behavioral characteristic that emerges as a byproduct of other genetic or environmental factors, rather than being directly selected for by natural selection to serve a specific adaptive function.

42
Q

What are the four primary sources of Speech and Language Impairment?

A

Biological
Environmental
Psychological
Social

43
Q

What phenotypes were abnormal in the KE family?

A

specific speech and language impairment such as developmental verbal dyspraxia (DVD) and developmental apraxia of speech (DAS)

44
Q

In the KE family, did the language impairment appear to be inherited as a dominant,
recessive, or polygenic trait?

A

Dominant trait based on the observations of the family’s pedigree

45
Q

When Monoco’s group (Fisher et al, 1998) mapped the KE family phenotype which
chromosomal region did it map to?

A

chromosome 7q31

46
Q

What was the provisional name they
assigned to the gene?

A

“SPCH1” (Speech and Language Disorder 1)

47
Q

Was the KE family phenotype due to a point mutation, a deletion, or a
trinucleotide repeat variant?

A

point mutation in the FOXP2 gene.

48
Q

FOXP2 is said to be highly conserved. What does this mean?

A

the sequence of the gene, or certain functional regions within it, has remained remarkably similar across different species over evolutionary time.

49
Q

How many
mutations/SNP’s are there that differentiate human and chimp FOXP2

A

two functional amino acid substitutions including many insertions and deletions

50
Q

Is the mutation in the KE family at one of the sites that differentiate chimp and human FOXP2 or is it in a
different place in the gene?

A

NO
KE family is a distinct point mutation within the FOXP2 gene, specifically affecting the coding sequence of the gene.

51
Q

What is a transcription factor?

A

a protein that regulates the expression of genes by binding to specific DNA sequences, thereby controlling the rate at which genes are transcribed into messenger RNA (mRNA)

52
Q

What neuroanatomical systems does the FOXP2 mutation in the KE family seem to
disrupt?

A

function of brain regions and neural circuits implicated in speech and language abilities including:
cerebellum
frontal cortex
basal gangilia
thalamus
corpus callosum

53
Q

The imaging studies of Ligeios showed that the affected KE family members had ALTERED ACTIVATION PATTERNS OF WHAT KET AREAS important for Speech and
Language?

A

Brocas area: associated with language production and speech articulation
Basal Ganglia: involved in motor control, procedural learning, and cognitive functions.

54
Q

Did the affected family members differ in the way that brain activity
in the word imagination task was lateralized to one side of the brain?

A

Yes, the KE family showed altered patterns of lateralization, with some individuals demonstrating more bilateral activation or right-hemisphere dominance (individuals tend to exhibit left-hemisphere dominance)