chapter 13 Flashcards

1
Q

What is genetics?

A

The study of inheritance

Genetics focuses on how traits are passed from parents to offspring through genes.

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2
Q

What is epigenetics?

A

The study of traits above inheritance

Epigenetics examines how environmental factors can influence gene expression without altering the DNA sequence.

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3
Q

True or False: Lamarckism suggests that traits acquired during an organism’s lifetime can be passed onto offspring.

A

True

Lamarckism is often contrasted with Darwinian evolution, which emphasizes natural selection.

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4
Q

How do Lamarckism and epigenetics differ?

A

They differ in their mechanisms and scientific validity

While both suggest that acquired traits can be inherited, epigenetics is supported by more contemporary scientific research.

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5
Q

Fill in the blank: _______ involves the idea that traits acquired during an organism’s lifetime can be passed onto offspring.

A

Lamarckism

This concept has historical significance in the study of evolutionary biology.

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6
Q

What gene modification leads to yellow coat color and extreme obesity in mice?

A

Modified agouti gene

The modified agouti gene results in a yellow coat color and obesity phenotype in mice.

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7
Q

What effect does a certain diet during gestation have on female mice offspring with a modified agouti gene?

A

Leads to wild-type offspring

The diet rich in methyl factors silences the modified agouti gene, resulting in wild-type offspring.

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8
Q

What is the key characteristic of the modified diet that affects the offspring of female mice?

A

Rich in methyl factors

Methyl factors contribute to increased methylation and gene silencing.

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9
Q

What long-term health risks are associated with Dutch citizens who survived the World War 2 famine?

A

Increased risk of heart disease, diabetes, and obesity

Studies show that those who experienced famine have higher rates of these conditions.

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10
Q

How does the methylation of the IGF2 gene differ in citizens born during the famine compared to those not born during it?

A

Less methylated in citizens born during the famine

This suggests a potential link between famine exposure and altered gene expression.

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11
Q

What is the methylation status of IGF2 in siblings born after the famine?

A

Higher methylation of IGF2

Siblings born after the famine exhibit a different methylation pattern compared to those born during it.

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12
Q

What are the five features of epigenetic modifications?

A
  • Alter chromatin structure
  • Transmissible during cell division
  • Reversible
  • Associated with gene transcription
  • Do not alter DNA sequence

Epigenetic modifications involve changes to chromatin that affect gene expression without changing the underlying DNA sequence.

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13
Q

True or False: Epigenetic modifications can lead to mutations in the DNA sequence.

A

False

Epigenetic modifications do not cause mutations; they remodel chromatin structure.

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14
Q

What is euchromatin?

A

Loosely compacted genomic regions that are more transcriptionally active

Euchromatin allows for easier access to the DNA for transcriptional machinery.

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15
Q

What is heterochromatin?

A

Densely compacted chromatin that is less transcriptionally active

Heterochromatin is typically associated with gene silencing.

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16
Q

What is constitutive heterochromatin?

A

Genomic regions that are always heterochromatin

These regions are usually located near centromeres and telomeres.

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17
Q

What is facultative heterochromatin?

A

Genomic regions that can switch between euchromatin and heterochromatin

This switching can be influenced by developmental cues or environmental factors.

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18
Q

What are position effects?

A

Genomic regions can be transcriptional hotspots or coldspots, varying in genomic effects

Position effects are important for understanding gene expression regulation.

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19
Q

What is a nucleosome?

A

A structure consisting of DNA wound around 8 histone proteins (H2A-H2B dimer + H3-H4 tetramer)

Nucleosomes are the fundamental units of chromatin.

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20
Q

How do histone proteins affect DNA?

A

Histone proteins enable DNA to coil around them

This coiling results in the formation of chromatin, which impacts gene accessibility.

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21
Q

What is the relationship between nucleosomes and chromatin structure?

A

Nucleosomes condense DNA into chromatin

The level of compaction affects the transcriptional activity of the associated genes.

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22
Q

Fill in the blank: Euchromatin is _______ compacted compared to heterochromatin.

A

less

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23
Q

True or False: Heterochromatin is more transcriptionally active than euchromatin.

A

False

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24
Q

What is the effect of acetylation on histone/DNA interaction?

A

It relaxes histone/DNA interaction by neutralizing positively charged histones

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25
What are Histone Acetyltransferases (HATs) responsible for?
They add acetyl groups to histones, leading to euchromatin
26
What is the role of Histone Deacetylases (HDACs)?
They remove acetyl groups from histones, leading to heterochromatin
27
How does methylation typically affect chromatin structure?
It is typically associated with heterochromatin, but can also lead to euchromatin
28
What do Histone Methyltransferases (HMTs) do?
They add methyl groups to histones
29
What is the function of Histone Demethylases (HDMTs)?
They remove methyl groups from histones
30
What is Position Effect Variegation (PEV)?
It occurs when heterochromatic areas spread to euchromatin, silencing transcription of genes
31
What organism was used to first discover Position Effect Variegation?
Drosophila
32
What genetic event was involved in the discovery of PEV?
An inversion on the X chromosome placed the white gene near the centromere
33
What phenotype is associated with the wild-type allele for the white gene in Drosophila?
Red eyes
34
What was the result of the inversion that led to PEV in Drosophila?
It created a mosaic where some cells in the fly compound eye were wild-type and others mutated
35
True or False: The flies affected by PEV were genotypically wild-type.
True
36
What do E(var) mutations stand for?
Enhancers of position effect variegation
37
What is the effect of E(var) mutations on mutant phenotypes?
They enhance mutant phenotypes by encouraging spread of heterochromatic
38
What do Sur(var) mutations stand for?
Suppressors of position effect variegation
39
What is the effect of Sur(var) mutations on heterochromatic spread?
They restrict heterochromatic spread
40
What phenotype do Sur(var) mutations encourage?
Wild-type phenotype
41
Fill in the blank: E(var) mutations lean towards _______.
mutant
42
Fill in the blank: Sur(var) mutations lean towards _______.
wild-type
43
What is variegated eye expression in Drosophila similar to?
X-inactivation
44
In which organisms does X-inactivation occur?
Female placental mammals
45
When does X-inactivation occur during development?
Early in embryonic development
46
How does a given cell decide which X chromosome to inactivate?
Random basis
47
What does X-inactivation result in for female cells?
Mosaics of two cell types
48
What are the two cell types resulting from X-inactivation?
One expresses the maternal X chromosome, the other expresses the paternal X chromosome
49
What is another term for X-inactivation?
Epigenetic phenomenon
50
What is long noncoding RNA (Inc RNA)?
Long RNA that lack open reading frames
51
What role does long noncoding RNA play in cells?
Gene regulation in eukaryotic cells
52
In which type of cells has Inc RNA been studied?
Stem cells of mice embryos
53
What is the proposed function of Inc RNA?
Act as scaffolds linking to regulatory proteins, affecting chromatin structure
54
What is an example of Inc RNA involved in X-inactivation?
X-inactivation-specific transcript (Xist)
55
Where is the Xist gene located?
In the X-inactivation center (XIC) on the X chromosome
56
What is the activity status of Xist in the heterochromatic X chromosome?
Active
57
What is the activity status of Xist in the euchromatic X chromosome?
Inactive
58
What does Xist RNA do during the inactivation process?
Coats X chromosome + spreads, causing silencing and deacetylation
59
What is the result of Xist RNA spreading along the chromosome?
Inactivation of almost all genes, silencing the chromosome
60
What is genomic imprinting?
An example of an epigenetic phenomenon that is heritable.
61
How does the expression of certain genes in offspring depend on the parent?
It depends on which parent passed the gene on.
62
What occurs during maternal imprinting?
The allele passed on by the mother is inactivated; offspring express the allele from the father.
63
What occurs during paternal imprinting?
The allele passed on by the father is inactivated; offspring express the allele from the mother.
64
Can genomic imprinting be x-linked or autosomal?
Yes.
65
What happens to imprinting when offspring produce their own gametes?
The previous imprinting is erased to ensure their gametes are imprinted one way.
66
In maternal imprinting, which gender switches alleles off when passing them on?
Only females.
67
What is the outcome of maternal imprinting in the context of a dominant allele causing a disease?
Children may not be affected.
68
What chromosomes are IGF2 and H19 located on?
Both are located on chromosome 11.
69
Which gene is only expressed on the maternally inherited chromosome?
H19.
70
Which gene is only expressed on the paternally inherited chromosome?
IGF2 (insulin growth factor 2).
71
What syndrome occurs when both chromosomes display maternal expression patterns?
Russell-Silver Syndrome.
72
What characterizes infants with Russell-Silver Syndrome?
They tend to be born underweight.
73
What syndrome results when both chromosomes display paternal expression patterns?
Beckwith-Wiedemann syndrome.
74
What condition is associated with Beckwith-Wiedemann syndrome?
Involves overgrowth of tissue.