Epigenetics and Disease and Development
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Questions and Answers

What is the predicted outcome of imprinting genes inherited from the father?

  • Larger offspring size (correct)
  • No impact on offspring size
  • Increased maternal offspring production
  • Smaller offspring size
  • Which syndrome is characterized by short stature and obesity when the deletion on chromosome 15 is inherited from the father?

  • Russell-Silver syndrome
  • Angelman syndrome
  • Prader-Willi syndrome (correct)
  • Beckwith-Wiedemann syndrome
  • What common symptom is associated with Angelman syndrome?

  • Severe intellectual disability (correct)
  • Hypogonadism
  • Obesity
  • Short stature
  • Which of the following syndromes is linked to overexpression of a gene product?

    <p>Beckwith-Wiedemann syndrome</p> Signup and view all the answers

    What primarily causes growth retardation in Russell-Silver syndrome?

    <p>Underexpression of gene products</p> Signup and view all the answers

    How does in utero ethanol exposure affect neural stem cells?

    <p>Impair their ability to differentiate into functional neurons</p> Signup and view all the answers

    What is a significant risk factor associated with Beckwith-Wiedemann syndrome?

    <p>Increased risk of developing Wilms tumor</p> Signup and view all the answers

    Which chromosome is primarily associated with both Prader-Willi and Angelman syndromes?

    <p>Chromosome 15</p> Signup and view all the answers

    What is a key role of DNA methylation in human health?

    <p>It suppresses the transcription of genes with dense methylation.</p> Signup and view all the answers

    Which statement is correct regarding the inactive and active X chromosomes in females?

    <p>The active X chromosome is largely devoid of DNA methylation.</p> Signup and view all the answers

    How is X chromosome inactivation determined in a female embryo?

    <p>It is random and occurs independently in each somatic cell.</p> Signup and view all the answers

    What is the relationship between histones and DNA?

    <p>Histones facilitate the compaction of DNA into eukaryotic nuclei.</p> Signup and view all the answers

    Which of the following describes heterochromatin?

    <p>It is tightly bound to histones and transcriptionally inactive.</p> Signup and view all the answers

    What is a potential outcome of somatic mosaicism in females?

    <p>Cells may exhibit differing traits due to X chromosome inactivation.</p> Signup and view all the answers

    What happens during gastrulation regarding the X chromosomes?

    <p>One of the X chromosomes is randomly activated.</p> Signup and view all the answers

    What does RNA-based mechanism in epigenetics refer to?

    <p>It involves the non-coding RNA regulation of gene expression.</p> Signup and view all the answers

    What is a potential effect of starvation experienced by individuals in utero during the winter of 1943 in the Netherlands?

    <p>Increased likelihood of obesity and diabetes in adulthood</p> Signup and view all the answers

    Which statement accurately describes the relationship between lifestyle differences and methylation patterns in monozygotic twins?

    <p>Significant lifestyle differences can lead to larger differences in methylation patterns.</p> Signup and view all the answers

    What effect does histone acetylation have on histones?

    <p>Diminishes the positive charge of histones</p> Signup and view all the answers

    Histone methylation can influence DNA binding how?

    <p>It can either increase or decrease binding depending on modification site</p> Signup and view all the answers

    What does the study suggest about the drug metformin in relation to aging?

    <p>Long-term use may extend lifespan beyond non-diabetic individuals.</p> Signup and view all the answers

    What is a consequence of mutations in genes coding for histone modifying proteins?

    <p>They have been linked to various pathological states including congenital heart disease</p> Signup and view all the answers

    How do tumor cells generally differ from normal cells regarding DNA methylation?

    <p>Tumor cells show decreased genomic methylation relative to normal cells.</p> Signup and view all the answers

    What can potentially be reversed according to the principles of epigenetics?

    <p>Epigenetic modifications</p> Signup and view all the answers

    What is unique about the epigenetic information in early embryonic cells?

    <p>It is the same across all cells but allows for function diversity</p> Signup and view all the answers

    What is genomic imprinting?

    <p>It refers to random inactivation of either the maternal or paternal copy in some somatic cells</p> Signup and view all the answers

    Which type of cancer has seen promise in screening for epigenetic regulation?

    <p>Breast cancer</p> Signup and view all the answers

    What is associated with altered DNA methylation patterns in autism spectrum disorder?

    <p>Genetic predispositions</p> Signup and view all the answers

    What is the genetic conflict hypothesis about parental investment?

    <p>Fathers want to maximize resources for each child while mothers want to limit resources</p> Signup and view all the answers

    What role do protamines have compared to histones?

    <p>They enable sperm DNA to achieve greater compaction than histone-bound DNA</p> Signup and view all the answers

    Which of the following is a proposed characterization of senescence in aging individuals?

    <p>An epigenome phenomenon</p> Signup and view all the answers

    What are housekeeping genes responsible for?

    <p>They are necessary for the function and maintenance of all cells</p> Signup and view all the answers

    Study Notes

    Epigenetics and Disease

    • Epigenetics are modifications to gene expression that don't change the DNA sequence, but still affect phenotype. These modifications include DNA methylation, histone modifications, and RNA-based mechanisms.
    • DNA methylation is prominent in females, particularly on the inactive X chromosome, leading to gene silencing.
    • Histone modification affects how tightly DNA is packaged, influencing gene expression. Acetylation decreases positive charge, making DNA more accessible; methylation can increase or decrease binding.
    • The state of individual segments of DNA affects cell potential and development.
    • Inactivation of one X chromosome is random during development, creating variation in somatic cells.

    Epigenetics and Development

    • Totipotent cells in early embryos can become any cell type because they have the potential to express all genes.
    • Epigenetic modifications are essential for cells to differentiate.
    • Housekeeping genes in all cells escape epigenetic silencing.
    • Gene expression depends on the "epigenomic information"
    • Epigenetics are involved in regulating gene expression in human development.
    • Epigenetic regulation occurs on top of the DNA's nucleotide sequence, allowing diversity of function.

    Genomic Imprinting

    • Imprinting involves silencing either the maternal or paternal copy of a gene, impacting offspring development.
    • In cases like Prader-Willi and Angelman syndrome, same deletion causes greatly different outcomes based on the parent of origin.
    • Developmental outcomes are dependent on whether the deletion is from the maternal or paternal copy.
    • Beckwith-Wiedemann syndrome, caused by errors in imprinting, shows characteristics like large size and increased risk of certain cancers.

    Epigenetics & Cognitive Development

    • In-utero exposure to ethanol can alter neuron differentiation.
    • PTSD can lead to changes in gene expression and methylation patterns in key neuronal pathways.
    • Epigenetic changes can be influenced by factors like poverty, nutrition and developmental stress, and can play a role in mental health.
    • Environmental factors like the Dutch Hunger Winter (1944-45) affected epigenetic effects on future generations.
    • Monozygotic (identical) twins exhibit increasingly different DNA methylations as they age, potentially due to lifestyle choices and environmental stressors.

    Epigenetics & Cancer

    • Cancer cells often exhibit abnormal methylation patterns.
    • Epigenetic marks can be used as diagnostic or prognostic biomarkers for cancers.
    • Drugs that target epigenetic pathways show promise for treating certain types of cancers.
    • Several drug therapies aimed at modifying epigenetic processes are being investigated, potentially for several cancers (i.e. leukemia)

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    Related Documents

    Epigenetics and Disease PDF

    Description

    This quiz explores the concepts of epigenetics and their role in both disease and development. Learn about the modifications to gene expression, such as DNA methylation and histone modifications, and how they influence cell differentiation and phenotype. Understand the implications of these mechanisms in various biological contexts.

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