Podcast
Questions and Answers
Which epigenetic modification is often observed to be decreased in tumor cells compared to normal cells?
Which epigenetic modification is often observed to be decreased in tumor cells compared to normal cells?
What is a potential therapeutic effect of histone deacetylase (HDAC) inhibitors, according to the text?
What is a potential therapeutic effect of histone deacetylase (HDAC) inhibitors, according to the text?
Metformin, according to the text, has been suggested to have what kind of effect related to epigenetics and lifespan?
Metformin, according to the text, has been suggested to have what kind of effect related to epigenetics and lifespan?
Which of the following is NOT mentioned as a cancer type for which epigenetic regulation screening has shown promise?
Which of the following is NOT mentioned as a cancer type for which epigenetic regulation screening has shown promise?
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What is the primary mechanism of therapeutic action for DNA methylating agents?
What is the primary mechanism of therapeutic action for DNA methylating agents?
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What distinguishes epigenetic modifications from other genetic changes?
What distinguishes epigenetic modifications from other genetic changes?
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Which statement accurately describes DNA methylation's role on the X chromosome in females?
Which statement accurately describes DNA methylation's role on the X chromosome in females?
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During which developmental stage does the epigenetic inactivation of one X chromosome occur?
During which developmental stage does the epigenetic inactivation of one X chromosome occur?
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What determines which X chromosome, maternal or paternal, will be silenced in each cell?
What determines which X chromosome, maternal or paternal, will be silenced in each cell?
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What is the term used to describe a situation where different cells in a female have different X chromosomes active?
What is the term used to describe a situation where different cells in a female have different X chromosomes active?
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What is the primary function of histones in the context of DNA?
What is the primary function of histones in the context of DNA?
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What is the key difference between heterochromatin and euchromatin?
What is the key difference between heterochromatin and euchromatin?
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How does the state of DNA-histone binding influence transcription?
How does the state of DNA-histone binding influence transcription?
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Histone acetylation has what effect on the interaction between DNA and histones?
Histone acetylation has what effect on the interaction between DNA and histones?
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What is a key function of protamines in sperm DNA?
What is a key function of protamines in sperm DNA?
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Which of the following best describes 'housekeeping genes'?
Which of the following best describes 'housekeeping genes'?
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What is the central idea of the genetic conflict hypothesis related to genomic imprinting?
What is the central idea of the genetic conflict hypothesis related to genomic imprinting?
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In Prader-Willi syndrome, what is the inheritance pattern of the genetic deletion?
In Prader-Willi syndrome, what is the inheritance pattern of the genetic deletion?
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Beckwith-Wiedemann syndrome is unique in that it can involve which genetic phenomenon?
Beckwith-Wiedemann syndrome is unique in that it can involve which genetic phenomenon?
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What is a distinguishing feature of imprinting associated diseases?
What is a distinguishing feature of imprinting associated diseases?
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What effect does in utero exposure to ethanol have on neural stem cells?
What effect does in utero exposure to ethanol have on neural stem cells?
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Individuals who were in utero during the Dutch famine in 1944-45 experienced what later in life?
Individuals who were in utero during the Dutch famine in 1944-45 experienced what later in life?
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What happens to methylation patterns in monozygotic twins as they age, especially if they have different lifestyles?
What happens to methylation patterns in monozygotic twins as they age, especially if they have different lifestyles?
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What is meant by 'genomic imprinting'?
What is meant by 'genomic imprinting'?
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What kind of methylation patterns are often found in people who have experienced PTSD?
What kind of methylation patterns are often found in people who have experienced PTSD?
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Which of these statements is true of Russell-Silver syndrome?
Which of these statements is true of Russell-Silver syndrome?
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What does the term 'totipotent' mean in the context of early embryonic cells?
What does the term 'totipotent' mean in the context of early embryonic cells?
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Which statement best describes the role of epigenetic information?
Which statement best describes the role of epigenetic information?
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Flashcards
Epigenetics
Epigenetics
Changes in gene expression without altering the DNA sequence. These modifications can include methylation, histone modifications, and microRNA regulation, all of which can influence how genes are turned on or off.
Metformin
Metformin
A drug that can slow down the aging process by influencing epigenetic pathways. It's known to affect the activity of genes involved in aging, potentially extending lifespan.
Epigenetic Modifications
Epigenetic Modifications
A group of modifications to DNA, such as methylation, that affect gene expression without altering the DNA sequence.
Epigenetics and Cancer
Epigenetics and Cancer
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Epigenetic Drugs
Epigenetic Drugs
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DNA methylation
DNA methylation
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X chromosome inactivation
X chromosome inactivation
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Histones
Histones
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Heterochromatin
Heterochromatin
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Euchromatin
Euchromatin
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Histone post-translational modifications
Histone post-translational modifications
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Histone Modification
Histone Modification
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Histone Acetylation
Histone Acetylation
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Histone Methylation
Histone Methylation
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Totipotent
Totipotent
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Housekeeping Genes
Housekeeping Genes
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Genomic Imprinting
Genomic Imprinting
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Genetic Conflict Hypothesis
Genetic Conflict Hypothesis
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Angelman Syndrome
Angelman Syndrome
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Prader-Willi Syndrome
Prader-Willi Syndrome
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Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
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Russell-Silver Syndrome
Russell-Silver Syndrome
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Epigenetics and Environment
Epigenetics and Environment
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Epigenetics and Aging
Epigenetics and Aging
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Study Notes
Epigenetics and Disease
- Epigenetics refers to modifications to DNA that aren't changes to the nucleotide sequence itself, yet are passed down during cell division (somatic or gamete production). These modifications modulate how genomic information produces a phenotype.
- Key epigenetic mechanisms include DNA methylation, histone modifications, and RNA-based mechanisms.
DNA Methylation
- DNA methylation significantly impacts health and disease, particularly in females.
- The inactive X chromosome carries substantial methylation, while the active X chromosome has minimal methylation.
- Regions with high methylation are typically inactive, and not actively transcribed.
- X chromosome activation occurs during gastrulation (early embryonic development) and is random in each cell (whether from mother or father).
- This random inactivation leads to phenotypic differences. Example: females with one normal and one disease-linked X gene tend to have milder symptoms than males with a disease-linked X chromosome.
Histone Modifications
- Histones are positively charged proteins that DNA wraps around. This facilitates compaction in the cell nucleus.
- Heterochromatin refers to tightly bound DNA segments.
- Euchromatin refers to loosely bound DNA segments where transcription factors access the DNA to create mRNA.
- Histone modifications (acetylation, methylation) influence the DNA-histone interaction and gene expression.
- Acetylation reduces positive charge and loosening DNA.
- Methylation can either increase or decrease bonding depending on the specific histone modification site.
- Mutations in genes related to histone modifications are implicated in pathologies like congenital heart disease.
- Protamines are evolutionarily derived from histones and provide even greater compaction for sperm DNA. They are also associated with male infertility.
Epigenetics and Human Development
- Early embryonic cells are totipotent, meaning they can develop into any somatic cell.
- Housekeeping genes, crucial for cellular function, generally escape epigenetic silencing and remain active in almost all cells.
- Genomic imprinting means either the maternal or paternal copy of a gene is expressed, not both.
- This phenomenon contributes to offspring phenotype.
- The genetic conflict hypothesis suggests that maternal and paternal interests are not entirely aligned regarding resource allocation to offspring.
- Maternal imprinted genes are predicted to limit offspring size, while paternal are predicted to lead to larger offspring.
- Diseases like Prader-Willi and Angelman syndromes are linked to imprinting errors on chromosome 15, with symptoms differing depending on inherited parental source.
- Beckwith-Wiedemann syndrome is also an imprinting disorder, often associated with multiple manifestations at birth, including birth size, large ears, etc. and has links to risk of developing certain cancers.
Epigenetics and Cognitive Development/Mental Health
- In utero ethanol exposure impairs neural stem cell differentiation.
- Poverty and PTSD are associated with atypical methylation patterns in genes influencing brain function.
- Autism spectrum disorder shows altered DNA methylation in certain genes.
- The 1943 Dutch famine illustrates how in utero conditions can impact offspring health epigenetically. This exposure led to an increased risk of obesity and diabetes.
Epigenetics and Aging
- Monozygotic twins may show differences in DNA methylation patterns over time due to lifestyle differences (e.g., smoking).
- Some propose that senescence (aging) is an epigenome phenomenon.
- Metformin, a drug used in diabetes, has been linked with lifespan extension and potential epigenetic pathway modulation.
Epigenetics and Cancer
- Tumor cells often exhibit decreased genome-wide methylation relative to normal cells.
- Epigenetic screening tools are promising for cancer detection (colon, breast, prostate).
- Other genetic-based screening approaches show promise for bladder, lung, and prostate cancer.
Treatment of Epigenetic Disease
- Epigenetic modifications may be reversible.
- Therapies like 5-azacytidine (DNA methylating agent) are used for leukemia, myelodysplastic syndromes.
- Histone deacetylase inhibitors decrease cancer cell division (breast, prostate, pancreas).
- MicroRNAs hold promise for targeted cancer drug development.
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Description
Explore the fascinating world of epigenetics, focusing on its role in health and disease. This quiz delves into key mechanisms like DNA methylation and how they affect the inactive and active X chromosomes, particularly in females. Understand how these biological processes lead to phenotypic differences and their implications in various conditions.