final 11,12 !
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Questions and Answers

Which statement is true about co-activators?

  • They bind directly to DNA.
  • They bind to the Pre-Initiation Complex (PIC). (correct)
  • They do not interact with histones.
  • They enhance gene expression. (correct)
  • What role does the iron regulatory protein (IRP) play?

  • It is involved in maintaining iron homeostasis. (correct)
  • It prevents Ferritin mRNA translation when iron levels are high.
  • It enhances the translation of Ferritin mRNA.
  • It binds to iron when iron levels are low.
  • Which of the following is not involved in RNA interference?

  • siRNA
  • miRNA
  • Dicer
  • Histones (correct)
  • Which structure is responsible for degrading peptides?

    <p>Proteasome (D)</p> Signup and view all the answers

    In the nature vs. nurture debate, what does 'nature' refer to?

    <p>Genetic inheritance. (A)</p> Signup and view all the answers

    What is the primary focus of Lecture 11 and 12?

    <p>Gene-environment interactions and epigenetics (A)</p> Signup and view all the answers

    What is indicated by the term 'In Text Citations' in the assignment instructions?

    <p>Citing facts from references in the main text (C)</p> Signup and view all the answers

    What should the file name for the assignment include?

    <p>The chosen disease and student name in a specific format (D)</p> Signup and view all the answers

    What is the consequence mentioned for not adhering to assignment guidelines?

    <p>Potential charges of plagiarism (C)</p> Signup and view all the answers

    What type of document must the assignment be submitted as?

    <p>A Word or PDF document (C)</p> Signup and view all the answers

    Which component is NOT mentioned in the outline for today's lecture?

    <p>Course Registration (A)</p> Signup and view all the answers

    What action should students take regarding assignment references?

    <p>List and properly cite all sources used (B)</p> Signup and view all the answers

    Which of the following is a rare disease?

    <p>Cystic Fibrosis (B)</p> Signup and view all the answers

    Which of the following conditions is NOT included in the list of rare diseases?

    <p>Cancer (B)</p> Signup and view all the answers

    What is the maximum score a student can achieve for providing information about the history and background of a disease?

    <p>4 points (C)</p> Signup and view all the answers

    Which disease is characterized by a deficiency of the enzyme homogentisate oxidase?

    <p>Alkaptonuria (B)</p> Signup and view all the answers

    Which of the following diseases primarily affects the lungs and digestive system?

    <p>Cystic Fibrosis (C)</p> Signup and view all the answers

    What is an essential aspect to include in a history and background report of a disease?

    <p>How and when the disease was discovered (C)</p> Signup and view all the answers

    What is the main focus of the evaluation criteria for the history and background of the disease?

    <p>Accurate information about the disease (C)</p> Signup and view all the answers

    Which of the following is NOT a listed rare disease?

    <p>Ulcerative Colitis (A)</p> Signup and view all the answers

    What is the minimum score a student can achieve for providing no information about a disease's history?

    <p>0 points (A)</p> Signup and view all the answers

    What is the maximum length allowed for the document?

    <p>One page (A)</p> Signup and view all the answers

    Which font sizes are acceptable for the document?

    <p>Size 11 (C)</p> Signup and view all the answers

    What margin size must be respected on all sides of the paper?

    <p>1 inch (B)</p> Signup and view all the answers

    What is the required spacing for the document?

    <p>Single spaced (B)</p> Signup and view all the answers

    Which of the following fonts is NOT acceptable for the document?

    <p>Helvetica (A), Courier New (B)</p> Signup and view all the answers

    What happens if the one-page limit is surpassed?

    <p>The document will be penalized (D)</p> Signup and view all the answers

    What type of headings should be used in the document?

    <p>Headings and subheadings are required (C)</p> Signup and view all the answers

    If a document is less than half a page, is it acceptable?

    <p>Yes, it is acceptable (A)</p> Signup and view all the answers

    What formatting must be avoided regarding the document's margins?

    <p>Margins exceeding 1 inch (A), Margins at less than 1 inch (D)</p> Signup and view all the answers

    How should the document be structured?

    <p>Clearly organized with headings and subheadings (C)</p> Signup and view all the answers

    What happens if a student provides no information about treatment options?

    <p>The student receives 0 points (C)</p> Signup and view all the answers

    What is required for a student to receive 4 points in the treatment/prevention discussion?

    <p>Accurate discussion of treatments, side effects, and efficacy (B)</p> Signup and view all the answers

    What defines a score of 3 points in the context of treatment discussion?

    <p>Discussion of treatments and some effectiveness without detailed analysis (A)</p> Signup and view all the answers

    What aspect is not required for a score of 4 points?

    <p>In-depth analysis of age-related factors (D)</p> Signup and view all the answers

    When discussing treatment options, what aspect can lead to a limited discussion score?

    <p>Failure to address limitations (A)</p> Signup and view all the answers

    What is a key indicator of understanding treatment efficacy?

    <p>Accurate articulation of treatment effectiveness (D)</p> Signup and view all the answers

    Which score reflects an incomplete analysis of factors like age or gender?

    <p>3 points (D)</p> Signup and view all the answers

    What directly impacts the score in the discussion of treatment, prevention, or side effects?

    <p>Depth and relevance of information provided (D)</p> Signup and view all the answers

    What characterizes a disease classified as rare?

    <p>It has a low prevalence in the general population. (A)</p> Signup and view all the answers

    Which component is essential when discussing the pathology of a disease?

    <p>The type and underlying causes of the disease. (A)</p> Signup and view all the answers

    What is the potential consequence of inadequate discussion of disease pathology?

    <p>Misunderstanding of the disease. (D)</p> Signup and view all the answers

    Which of the following best describes sufficient information for a score of 4 points on disease pathology?

    <p>Detailed features, symptoms, causes, and potential consequences. (C)</p> Signup and view all the answers

    What is a common misconception regarding discussing the history and background of a disease?

    <p>Statistics are sufficient without historical context. (D)</p> Signup and view all the answers

    How is a score of 1 point typically described in the evaluation of disease pathology?

    <p>Inaccurate information that is not relevant. (B)</p> Signup and view all the answers

    Which aspect is crucial for determining the characteristics of a disease beyond its symptoms?

    <p>The disease's underlying pathophysiology. (C)</p> Signup and view all the answers

    What is the primary role of histones in DNA packaging?

    <p>To provide structural support for nucleosomes (A)</p> Signup and view all the answers

    What is the composition of a nucleosome?

    <p>DNA plus a histone octamer (C)</p> Signup and view all the answers

    Which histone is known as the linker histone?

    <p>H1 (C)</p> Signup and view all the answers

    What is euchromatin primarily associated with?

    <p>Transcriptionally active genetic regions (C)</p> Signup and view all the answers

    How does the modification of histone tails affect gene expression?

    <p>It can enhance or inhibit transcription based on the modification (C)</p> Signup and view all the answers

    What is the packaging ratio of DNA within nucleosomes?

    <p>10,000:1 (B)</p> Signup and view all the answers

    Which of the following statements is true about histone proteins?

    <p>They consist of four distinct types per octamer (C)</p> Signup and view all the answers

    Which type of chromatin is characterized as being densely packed and largely inactive?

    <p>Heterochromatin (C)</p> Signup and view all the answers

    What is the total number of chromosomes present in human gametes?

    <p>23 chromosomes (D)</p> Signup and view all the answers

    What is the purpose of imprint erasure in gametogenesis?

    <p>To establish parent-of-origin-specific gene expression (C)</p> Signup and view all the answers

    Which of the following accurately describes X-chromosome reactivation?

    <p>It only occurs in female gametes after fertilization (A)</p> Signup and view all the answers

    Which process is responsible for gene expression from only one allele?

    <p>Imprinting (A)</p> Signup and view all the answers

    What role does tissue-specific methylation play in pre-implantation development?

    <p>It determines morphogenetic changes (A)</p> Signup and view all the answers

    What is a consequence of paternal imprinting during gametogenesis?

    <p>Paternal genes are silenced while maternal genes are expressed (A)</p> Signup and view all the answers

    What does the term 'epigenetic marks' refer to?

    <p>Chemical modifications affecting gene expression (A)</p> Signup and view all the answers

    Which of the following is a way that epigenetic changes can be inherited?

    <p>During the formation of germ cells (C)</p> Signup and view all the answers

    What is the main function of histone modifications in the histone code hypothesis?

    <p>They serve as docking sites for non-histone proteins (B)</p> Signup and view all the answers

    How does the epigenome relate to the genetic state of a cell?

    <p>It represents the overall epigenetic state of the cell. (A)</p> Signup and view all the answers

    Which of the following factors can induce epigenetic changes?

    <p>Nutritional inputs and stress (C)</p> Signup and view all the answers

    What is the primary focus of the study of epigenetics?

    <p>Heritable changes in gene expression without DNA sequence changes (D)</p> Signup and view all the answers

    Which of the following statements is true regarding the preservation of epigenetic information?

    <p>It can be preserved through cell division. (A)</p> Signup and view all the answers

    What does the histone code hypothesis suggest about chromatin activity?

    <p>It depends on the chemical modifications of histone tails. (D)</p> Signup and view all the answers

    In what way can environmental factors impact gene expression according to epigenetics?

    <p>They can activate or silence genes through epigenetic modifications. (C)</p> Signup and view all the answers

    What is a key characteristic of epigenetic modifications?

    <p>They can be stable yet reversible. (B)</p> Signup and view all the answers

    What are the Yamanaka factors responsible for?

    <p>Reprogramming the epigenome for cellular transformation (A)</p> Signup and view all the answers

    What is one observable effect of silencing the agouti gene in mice?

    <p>Brown fur coat (A)</p> Signup and view all the answers

    How do methyl rich supplements affect the agouti gene?

    <p>They inhibit its expression through DNA methylation. (A)</p> Signup and view all the answers

    What major conclusion can be drawn from twin studies regarding epigenetics?

    <p>Environmental differences can lead to varying health outcomes. (D)</p> Signup and view all the answers

    Which factor is critical to the process of morphogenesis?

    <p>The organization of tissues and organs (B)</p> Signup and view all the answers

    What is observed in older identical twins in terms of their epigenetic marks?

    <p>More pronounced differences in methylation patterns (B)</p> Signup and view all the answers

    In the context of the agouti mouse model, what phenotype indicates an activated agouti gene?

    <p>Obesity with yellow fur (A)</p> Signup and view all the answers

    What is the primary mechanism by which environmental factors can alter gene expression?

    <p>DNA methylation (A)</p> Signup and view all the answers

    What is the significance of the agouti gene in the context of epigenetic research?

    <p>It serves as a model for studying gene-environment interactions. (B)</p> Signup and view all the answers

    What evidence is provided by studying monozygotic twins regarding epigenetics?

    <p>Their epigenomes can differ significantly despite identical genetics. (C)</p> Signup and view all the answers

    What is the effect of DNA methyltransferases (DNMTs) on gene expression?

    <p>They methylate CpG islands, which can silence genes. (D)</p> Signup and view all the answers

    Which statement correctly describes the role of methylation in gene expression?

    <p>Methylation can determine whether housekeeping genes are active or inactive. (A)</p> Signup and view all the answers

    What potential consequence arises from the over-expression of DNMTs?

    <p>Impairment of stem cell transition leading to diseases such as leukemia. (D)</p> Signup and view all the answers

    Which of the following factors can influence DNA methylation?

    <p>Environmental toxins and dietary components. (B)</p> Signup and view all the answers

    How are methyl groups necessary for DNA methylation acquired in the body?

    <p>Through the metabolism of dietary components like methionine. (B)</p> Signup and view all the answers

    What is the lowest score achievable for providing a figure or scheme in the assignment?

    <p>0 points (B)</p> Signup and view all the answers

    What is a key characteristic of a schematic diagram that would earn a score of 4 points?

    <p>It accurately illustrates important pathways. (D)</p> Signup and view all the answers

    Which score indicates that a figure or scheme was mostly accurate but had some missing processes?

    <p>3 points (B)</p> Signup and view all the answers

    What would result in a score of 2 points for a figure provided by a student?

    <p>The figure is basic but lacks clarity or detailed steps. (B)</p> Signup and view all the answers

    What characteristic differentiates a score of 1 point from a score of 0 points?

    <p>The figure includes some original elements. (D)</p> Signup and view all the answers

    Which scenario would likely earn a student a score of 3 points for their figure?

    <p>The figure illustrates important pathways but lacks comprehensive clarity. (C)</p> Signup and view all the answers

    What common issue might prevent a figure from scoring more than 2 points?

    <p>The figure has missing details or clarity issues. (A)</p> Signup and view all the answers

    What is required regarding margins on the document?

    <p>1 inch margins should be respected on all sides (D)</p> Signup and view all the answers

    What spacing format is required for the document?

    <p>Single spaced (C)</p> Signup and view all the answers

    Which of the following font types is NOT allowed?

    <p>Helvetica (A)</p> Signup and view all the answers

    What happens if the document is less than half a page in length?

    <p>It will not be accepted (A)</p> Signup and view all the answers

    What formatting must be avoided regarding headings?

    <p>Not using headings and subheadings (B)</p> Signup and view all the answers

    If a document surpasses the one-page limit, what is the consequence?

    <p>Points will be deducted (B)</p> Signup and view all the answers

    What is a common misconception regarding document length?

    <p>The one-page limit is flexible (D)</p> Signup and view all the answers

    What is the main function of chromosomes in a human diploid cell?

    <p>To package large amounts of DNA into a compact structure (A)</p> Signup and view all the answers

    How many chromatids are present in a human diploid cell before division?

    <p>46 (B)</p> Signup and view all the answers

    What is the composition of sex chromosomes in humans?

    <p>One homologous pair and one unpaired (B)</p> Signup and view all the answers

    What are sister chromatids?

    <p>Two identical copies formed after DNA replication (C)</p> Signup and view all the answers

    What do haploid cells contain?

    <p>One complete set of chromosomes (B)</p> Signup and view all the answers

    During the process of mitosis, what happens to sister chromatids?

    <p>They separate into daughter cells (C)</p> Signup and view all the answers

    What is a characteristic of autosomal chromosomes in humans?

    <p>They comprise the majority of chromosomes (C)</p> Signup and view all the answers

    What is the relationship between homozygous chromosomes and homologous pairs?

    <p>Both contain identical alleles from both parents (C)</p> Signup and view all the answers

    How does the human diploid cell ensure genetic variation during reproduction?

    <p>Through genetic recombination during meiosis (C)</p> Signup and view all the answers

    What initiates the formation of sister chromatids in a diploid cell?

    <p>The replication of each original chromosome (A)</p> Signup and view all the answers

    How do histone modifications influence chromatin activity?

    <p>They affect the recruitment of non-histone proteins. (B)</p> Signup and view all the answers

    Which statement best defines the term 'epigenome'?

    <p>The overall epigenetic state of a cell. (B)</p> Signup and view all the answers

    Which of the following factors is NOT generally associated with causing epigenetic changes?

    <p>Genetic mutations (C)</p> Signup and view all the answers

    What are epigenetic marks primarily involved in?

    <p>Silencing or activating gene expression. (B)</p> Signup and view all the answers

    Which of these correctly describes a characteristic of epigenetics?

    <p>It is reversible and influenced by external factors. (C)</p> Signup and view all the answers

    In the context of the epigenetic landscape proposed by Waddington, what does the term 'cell fates' refer to?

    <p>The potential pathways that cells can follow during development. (A)</p> Signup and view all the answers

    Which amino acid modification is mentioned as part of the histone code hypothesis?

    <p>Lysine (C)</p> Signup and view all the answers

    Which epigenetic mechanism is involved in preserving genetic material across cell divisions?

    <p>Histone modification maintenance. (A)</p> Signup and view all the answers

    What concept did CH Waddington introduce related to gene expression regulation?

    <p>The epigenetic landscape model. (D)</p> Signup and view all the answers

    Flashcards

    Assignment Deadline

    The assignment is due on Tuesday.

    In-text Citations

    Clearly indicate which statements in the assignment come from which references.

    Bibliography

    A list of sources for facts used in the main text of the assignment.

    File Naming Format

    Assignments require a specific file naming convention.

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    Plagiarism

    Presenting others' work as your own.

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    Assignment Submission

    Submitting the assignment in a Word or PDF file format.

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    References

    Sources of information used in an assignment.

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    Cystic Fibrosis

    A rare genetic disease affecting mucus production in the body.

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    Rare Disease

    A disease that affects a small percentage of the population.

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    Criteria Scoring

    A system for evaluating information about a disease.

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    History & Background of Disease

    Information about the origins and development of a disease.

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    Excellent Score

    Highest rating in evaluation criteria for disease knowledge.

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    Alkaptonuria

    A rare genetic disorder affecting the breakdown of certain amino acids.

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    Amyloidosis

    A group of diseases characterized by abnormal protein deposits.

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    Cerebral Palsy

    A group of disorders affecting movement and muscle tone.

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    Criteria Score

    Numerical rating for how well different criteria are met.

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    Treatment Efficacy

    The effectiveness of a treatment in achieving its intended outcome.

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    Treatment Limitations

    Restrictions or constraints on the use of a treatment.

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    Side Effects

    Unwanted physical or psychological effects resulting from treatment.

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    Prevention Strategies

    Methods or actions aimed at preventing a problem from occurring.

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    Treatment Options

    Different ways to treat a problem or condition.

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    In-depth Analysis

    A comprehensive, detailed examination of something, considering multiple factors.

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    Comprehensive Information

    Complete information about a subject.

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    Treatment Discussion

    Description and analysis of potential treatments.

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    Student Score 1

    Student provided only minimal or general information about treatment, prevention, limitations, side effects, or efficacy.

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    Student Score 4

    Student accurately discussed available treatments and their efficacy; discussed potential/available treatments, effectiveness of treatment, limitations, side effects, and relevant factors (e.g. age or gender).

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    Page Limit

    The maximum allowed length of the document is one page (8.5 x 11 inches).

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    Margins

    All sides of the paper must have a 1-inch margin.

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    Font

    The document must use either Times New Roman or Arial font.

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    Font Size

    The font size should be 11 points.

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    Spacing

    The document should be single-spaced, not double-spaced!

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    Headings

    The document needs headings and subheadings to organize information.

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    Half-Page Length

    A document with a length of less than half a page will be penalized.

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    3/4 Page to One Page Length

    A document length between half and full pages will receive some penalty.

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    Surpassed Page Limit

    Any document exceeding the one-page limit will be penalized.

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    Submission Format

    Assignments must be submitted as a Word (.doc or .docx) or PDF file.

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    Co-activators

    Proteins that enhance gene expression without directly binding to DNA. They interact with the basal transcription machinery, like the pre-initiation complex (PIC), and sometimes histones.

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    Iron Regulatory Protein (IRP)

    A protein that regulates iron levels in the cell. When iron is low, IRP binds to the iron responsive element (IRE) on ferritin mRNA, blocking translation and preventing ferritin synthesis. When iron is high, IRP binds iron and releases the IRE, allowing ferritin translation.

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    RNA interference (RNAi)

    A mechanism that silences gene expression by degrading specific mRNA molecules. It involves small interfering RNA (siRNA) and microRNA (miRNA), which are processed by Dicer to form the RNA-induced silencing complex (RISC) that targets and degrades complementary mRNA.

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    Proteasome

    A large protein complex that degrades misfolded or damaged proteins, ensuring proper cellular function.

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    Epigenetics

    The study of heritable changes in gene expression that occur without altering the DNA sequence itself. These changes can be influenced by environmental factors and lifestyle choices, affecting health and disease.

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    Disease Pathology

    The study of how a disease affects the body's structure and function. It explores the mechanisms underlying the disease, including its causes, symptoms, and potential consequences.

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    What are the criteria for scoring disease knowledge?

    The criteria for scoring disease knowledge typically assess various aspects of the disease, including its history, global statistics, rarity, pathological features, symptoms, causes, potential consequences, and treatment options. The student's understanding of these aspects is evaluated.

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    How do genetics affect the disease?

    Genetics can play a significant role in the development of many diseases. Genetic mutations can cause certain diseases, and genetic variations can influence an individual's susceptibility to developing a disease or their response to treatment.

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    How does gene expression regulate disease?

    Gene expression, the process of converting genetic information into functional proteins, can be altered in disease states. Changes in gene expression can affect protein production, leading to abnormal cellular function and disease development.

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    What is treatment efficacy?

    Treatment efficacy refers to the effectiveness of a treatment in achieving its desired outcome. It measures how well the treatment works in addressing the specific disease symptoms or conditions.

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    What are some limitations of treatment?

    Treatment limitations are restrictions or constraints on the use of a particular treatment, including factors such as side effects, potential complications, or the availability of the treatment.

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    Epigenetic modifications

    Changes in gene expression that occur without altering the DNA sequence itself. These modifications can be influenced by environmental factors and lifestyle choices.

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    Imprinting

    A process where a gene's expression depends on whether it's inherited from the mother or father. Only one copy of the gene is active, while the other is silenced.

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    X-chromosome inactivation (females)

    One of the two X chromosomes in females is randomly silenced, ensuring equal gene expression compared to males with only one X.

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    De-methylation

    The removal of methyl groups from DNA, which can activate gene expression.

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    Tissue-specific methylation

    Different tissues within the body have unique methylation patterns, which helps determine their specific functions.

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    What are gametes?

    Specialized reproductive cells (sperm and egg) carrying half the genetic material of an organism. They fuse during fertilization, giving the offspring a full set of chromosomes.

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    What is chromatin?

    A complex structure made of DNA tightly wrapped around proteins called histones. It's the form in which DNA exists within the nucleus of eukaryotic cells.

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    What are histones?

    Proteins that package and organize DNA in the nucleus. They have a positive charge, attracting negatively charged DNA.

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    Nucleosome

    The fundamental unit of chromatin structure - consists of a segment of DNA wrapped around a core of eight histone proteins.

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    What are linker histones?

    Histones that connect nucleosomes, adding to the further compaction of DNA.

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    What is euchromatin?

    A less dense form of chromatin, accessible to the cellular machinery for transcription, meaning genes can be actively expressed.

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    What is heterochromatin?

    A tightly packed, dense form of chromatin, containing inactive genes. It's not easily accessible for transcription.

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    What are histone tails?

    N-terminal regions of histone proteins that extend outwards from the nucleosome. They can be chemically modified, impacting DNA compaction and gene expression.

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    How do modifications to histone tails affect gene expression?

    Modifications like acetylation or methylation can alter the charge and structure of histones. This can loosen or tighten DNA packaging, making genes more or less accessible for transcription.

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    Morphogenesis

    The biological process that shapes an organism's structure, directing the formation and organization of tissues and organs to create its overall form.

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    Yamanaka Factors

    Four transcription factors (Oct4, Klf4, Sox2, c-Myc) that can reprogram the epigenome of somatic cells, converting them into induced pluripotent stem cells (iPSCs).

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    Epigenetic Landscape

    A metaphor for the dynamic and complex state of cellular differentiation, where cells can be directed along different developmental pathways based on epigenetic modifications.

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    Agouti Gene

    A gene that influences coat color and obesity in mice. When activated, it leads to yellow fur and obesity; when silenced, it results in brown fur and normal weight.

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    Twin Studies and Epigenetics

    Research on identical twins reveals how environmental exposures throughout life can lead to differences in their epigenomes, resulting in disparities in health and disease.

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    Epigenetic Reprogramming

    The process of altering the epigenome to change gene expression, such as by using Yamanaka factors to convert somatic cells into iPSCs.

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    Environmental Influence on Epigenetics

    The environment can alter the epigenome, affecting gene expression and contributing to health outcomes. For example, maternal diet during pregnancy can influence offspring's epigenetic patterns.

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    Somatic Cells

    Any biological cells forming the body of a multicellular organism other than gametes (sperm or egg cells) or undifferentiated stem cells.

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    Pluripotent Stem Cells

    Cells that have the potential to develop into any cell type in the body, like the cells present in the early embryo.

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    Histone Code Hypothesis

    The activity of a chromatin region depends on the chemical modifications of histone tails. These modifications serve as docking sites for non-histone proteins, affecting how tightly DNA is packed and influencing gene expression.

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    Epigenome

    The overall epigenetic state of a cell, encompassing all of its epigenetic marks and their influence on gene expression.

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    What are some environmental influences on epigentics?

    Factors like diet, exercise, stress, toxins, and hormone levels can all influence epigenetic modifications, impacting gene expression and ultimately health.

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    Gene Silencing

    A mechanism where gene expression is prevented or significantly reduced, often through epigenetic modifications like methylation or histone modifications.

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    Gene Activation

    The process of turning on or enhancing the expression of a gene, often through epigenetic modifications like acetylation or other histone modifications.

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    What is the significance of epigenetic changes being heritable?

    These changes can be passed down to future generations, influencing their health and development.

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    Explain the role of epigenetic modifications in cell differentiation.

    Epigenetic modifications play a crucial role in determining cell fate and differentiation. They help cells to specialize into different types, ultimately establishing the diverse tissues and organs of an organism.

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    How can epigenetic changes be reversed?

    Epigenetic changes are not permanent and can be reversed. Interventions like diet, exercise, and specific therapies can influence epigenetic modifications, potentially restoring healthy gene expression.

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    Chromosome

    An organized structure composed of DNA and proteins that condenses and packages large amounts of DNA into a small space.

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    Diploid Cell

    A cell containing pairs of chromosomes, with one chromosome from each parent.

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    Haploid Cell

    A cell containing half the number of chromosomes found in a diploid cell, with only one copy of each chromosome.

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    Chromatid

    One of two identical copies of a replicated chromosome.

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    Homologous Chromosomes

    Pairs of chromosomes that have the same genes in the same order, but may carry different alleles.

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    Centromere

    The constricted region of a chromosome that holds the sister chromatids together.

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    One Page Limit

    Assignments must be limited to one page (8.5 x 11 inches) in length.

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    Mitosis

    A type of cell division that produces two identical daughter cells, each with the same number of chromosomes as the parent cell.

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    Meiosis

    A specialized cell division that produces gametes (sperm and egg cells) with half the number of chromosomes as the parent cell.

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    Autosomal Chromosomes

    Chromosomes that are not involved in determining sex.

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    Sex Chromosomes

    Chromosomes that determine the sex of an individual.

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    Half-Page Penalty

    Documents shorter than half a page will be penalized.

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    3/4 to Full Page Penalty

    Documents between half and full pages will receive some penalty.

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    Surpassed Page Limit Penalty

    Exceeding the one-page limit will be penalized.

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    Figure / Scheme Score

    This score evaluates how well a student creates and presents a visual representation (like a diagram or pathway) to explain their understanding of a disease's cause. The score accounts for accuracy, completeness, clarity, and originality.

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    Disease Mechanism

    The series of biological processes or events that lead to the development or progression of a disease. This involves understanding how cells, tissues, and organs are affected, and what triggers these changes.

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    Pathway Diagram

    A visual representation of a series of events (like a chain of reactions) involved in a biological process, illustrating how molecules interact and transform. In the context of diseases, it helps understand how a disease progresses at the cellular level.

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    Biochemical Steps

    The specific chemical reactions and processes that occur within cells, leading to changes in the body's structure and function. These changes can play a key role in the development of diseases.

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    Disease Initiation

    The initial events or factors that trigger the first stage of a disease, which can involve genetic mutations, environmental exposures, abnormal cell behavior, or other factors.

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    Disease Progression

    The continuous changes that occur in the body after a disease is initiated, leading to its development and worsening symptoms. It involves the spread, growth, or damage caused by the disease.

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    Disease Mechanism Examples

    Examples of how diseases can be explained using visual representations. For example, a pathway diagram could illustrate how a genetic mutation leads to abnormal protein production, which then disrupts a key cell function leading to disease development.

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    Epigenetic Marks

    Chemical modifications to DNA or histone proteins that affect gene expression. They can be like switches, turning genes on or off.

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    Acetylation

    An epigenetic modification where an acetyl group is added to histones. This usually makes genes more active, like flipping a switch to 'on'.

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    Environmental Influences

    Factors like diet, exercise, stress, and toxins can alter epigenetic modifications, influencing gene expression and potentially affecting health.

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    Cell Differentiation

    The process by which cells become specialized, acquiring unique functions. Epigenetic modifications play a crucial role in this process, guiding cells toward specific fates.

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    Heritability of Epigenetic Changes

    Epigenetic modifications can be passed down from parents to offspring, impacting their health and development. It's one way environment influences future generations.

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    CpG Island

    A region of DNA with a high concentration of cytosine and guanine nucleotides, often located near gene promoters. These islands are frequently targeted by DNA methyltransferases (DNMTs) during methylation.

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    DNMTs

    DNA methyltransferases are enzymes responsible for adding methyl groups to DNA. They play a crucial role in gene silencing and are often found overexpressed in cancer cells, leading to aberrant gene expression.

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    How does DNA methylation influence gene expression?

    DNA methylation typically silences genes by changing chromatin structure and preventing transcription factors from binding to DNA. Thus, methylation of CpG islands can turn genes 'off,' while demethylation can reactivate them.

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    Environmental Influences on Methylation

    Factors like diet, toxin exposure, stress, and even lifestyle choices can influence the methylation patterns in our DNA. These changes can impact gene expression, potentially contributing to health issues or disease development.

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    Study Notes

    HSS2305: Molecular Mechanisms of Disease

    • Lecture content covers Gene-Environment Interactions and Epigenetics.
    • A diagram of a typical animal cell's organelles is included.

    Today's Outline

    • Announcements
    • Assignments
    • Sample Questions
    • Control of Gene Expression

    Announcement - Assignment

    • Deadline is Tuesday.
    • Assignments require original work, plagiarism is not permitted.

    Essay Instructions

    • One-page essay on a disease chosen from a list, specific to each student.
    • Essays are graded based on a chronological order in which students choose their diseases; first-come, first-served.
    • Late submissions have penalties.
    • Essay format requirements:
      • 1-inch margins on all sides
      • Font is Times Romans or Arial, size 11
      • Single line spacing
      • One diagram of the disease pathway (original work, not copied)
      • 10-15 references (on a separate page)
      • Headings and subheadings for the abstract
      • Cover page with disease name and student information.
      • Do not use artificial intelligence for the diagram or any text.
      • Essay will be 4 pages long (diagram, references, and cover page in addition to the main material).

    Assignment - References

    • In-text citations must reference the bibliography.
    • Provide summaries/abstracts of each reference source cited, in text.

    Assessment Criteria

    • 20 points possible for this section (20% of the total marks).
      • History of the disease: (4 points) - origins/discovery, global statistics, and why the disease is rare.
      • Disease pathology: (4 points) - disease type, pathophysiology, symptoms, consequences, and cause with diagram/scheme/pathway.
      • Diagram/Schema: (4 points) - original, clear diagram/schema of the pathway or steps, highlighting the disease mechanism.
      • Treatment/Prevention: (4 points) - effective treatments used, limitations, side effects, and any age/gender-related factors.
      • References: (2 points) - at least 10 peer-reviewed references in the last 10 years. APA style.
      • Writeup clarity and style: (2 points) - organization, style, grammar, spelling accuracy.

    Lecture 11 Review Questions

    • 1. Co-activators do not: (a) Enhance gene expression, (b) Bind directly to DNA, (c) Bind to the PIC, (d) Interact with histones.
    • 2. Iron regulatory protein (IRP): (a) Prevents Ferritin mRNA translation, (b) Binds iron when iron levels are high, (c) Is an example of translational modification, (d) All of the above.
    • 3. RNA interference is not mediated by: (a) Histones, (b) siRNA, (c) miRNA, (d) Dicer.
    • 4. What structure degrades peptides? (a) Polysome, (b) Proteosome, (c) Ribosome, (d) PIC

    Additional Topics

    • Various slides contain diagrams and descriptions of DNA packaging, epigenetics, and their significance in disease mechanisms.

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    Description

    Explore the intricate relationship between gene-environment interactions and epigenetics in the context of diseases. This quiz covers essential concepts, including control of gene expression, and will prepare you for your upcoming assignment on disease pathways. Dive deep into the molecular mechanisms that underpin health and disease.

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