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?

Proteasome Signup and view all the answers

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

Genetic inheritance. Signup and view all the answers

What is the primary focus of Lecture 11 and 12?

Gene-environment interactions and epigenetics Signup and view all the answers

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

Citing facts from references in the main text Signup and view all the answers

What should the file name for the assignment include?

The chosen disease and student name in a specific format Signup and view all the answers

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

Potential charges of plagiarism Signup and view all the answers

What type of document must the assignment be submitted as?

A Word or PDF document Signup and view all the answers

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

Course Registration Signup and view all the answers

What action should students take regarding assignment references?

List and properly cite all sources used Signup and view all the answers

Which of the following is a rare disease?

Cystic Fibrosis Signup and view all the answers

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

Cancer 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?

4 points Signup and view all the answers

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

Alkaptonuria Signup and view all the answers

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

Cystic Fibrosis Signup and view all the answers

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

How and when the disease was discovered Signup and view all the answers

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

Accurate information about the disease Signup and view all the answers

Which of the following is NOT a listed rare disease?

Ulcerative Colitis Signup and view all the answers

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

0 points Signup and view all the answers

What is the maximum length allowed for the document?

One page Signup and view all the answers

Which font sizes are acceptable for the document?

Size 11 Signup and view all the answers

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

1 inch Signup and view all the answers

What is the required spacing for the document?

Single spaced Signup and view all the answers

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

Helvetica Signup and view all the answers

What happens if the one-page limit is surpassed?

The document will be penalized Signup and view all the answers

What type of headings should be used in the document?

Headings and subheadings are required Signup and view all the answers

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

Yes, it is acceptable Signup and view all the answers

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

Margins exceeding 1 inch Signup and view all the answers

How should the document be structured?

Clearly organized with headings and subheadings Signup and view all the answers

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

The student receives 0 points Signup and view all the answers

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

Accurate discussion of treatments, side effects, and efficacy Signup and view all the answers

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

Discussion of treatments and some effectiveness without detailed analysis Signup and view all the answers

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

In-depth analysis of age-related factors Signup and view all the answers

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

Failure to address limitations Signup and view all the answers

What is a key indicator of understanding treatment efficacy?

Accurate articulation of treatment effectiveness Signup and view all the answers

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

3 points Signup and view all the answers

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

Depth and relevance of information provided Signup and view all the answers

What characterizes a disease classified as rare?

It has a low prevalence in the general population. Signup and view all the answers

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

The type and underlying causes of the disease. Signup and view all the answers

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

Misunderstanding of the disease. Signup and view all the answers

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

Detailed features, symptoms, causes, and potential consequences. Signup and view all the answers

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

Statistics are sufficient without historical context. Signup and view all the answers

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

Inaccurate information that is not relevant. Signup and view all the answers

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

The disease's underlying pathophysiology. Signup and view all the answers

What is the primary role of histones in DNA packaging?

To provide structural support for nucleosomes Signup and view all the answers

What is the composition of a nucleosome?

DNA plus a histone octamer Signup and view all the answers

Which histone is known as the linker histone?

H1 Signup and view all the answers

What is euchromatin primarily associated with?

Transcriptionally active genetic regions Signup and view all the answers

How does the modification of histone tails affect gene expression?

It can enhance or inhibit transcription based on the modification Signup and view all the answers

What is the packaging ratio of DNA within nucleosomes?

10,000:1 Signup and view all the answers

Which of the following statements is true about histone proteins?

They consist of four distinct types per octamer Signup and view all the answers

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

Heterochromatin Signup and view all the answers

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

23 chromosomes Signup and view all the answers

What is the purpose of imprint erasure in gametogenesis?

To establish parent-of-origin-specific gene expression Signup and view all the answers

Which of the following accurately describes X-chromosome reactivation?

It only occurs in female gametes after fertilization Signup and view all the answers

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

Imprinting Signup and view all the answers

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

It determines morphogenetic changes Signup and view all the answers

What is a consequence of paternal imprinting during gametogenesis?

Paternal genes are silenced while maternal genes are expressed Signup and view all the answers

What does the term 'epigenetic marks' refer to?

Chemical modifications affecting gene expression Signup and view all the answers

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

During the formation of germ cells Signup and view all the answers

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

They serve as docking sites for non-histone proteins Signup and view all the answers

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

It represents the overall epigenetic state of the cell. Signup and view all the answers

Which of the following factors can induce epigenetic changes?

Nutritional inputs and stress Signup and view all the answers

What is the primary focus of the study of epigenetics?

Heritable changes in gene expression without DNA sequence changes Signup and view all the answers

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

It can be preserved through cell division. Signup and view all the answers

What does the histone code hypothesis suggest about chromatin activity?

It depends on the chemical modifications of histone tails. Signup and view all the answers

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

They can activate or silence genes through epigenetic modifications. Signup and view all the answers

What is a key characteristic of epigenetic modifications?

They can be stable yet reversible. Signup and view all the answers

What are the Yamanaka factors responsible for?

Reprogramming the epigenome for cellular transformation Signup and view all the answers

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

Brown fur coat Signup and view all the answers

How do methyl rich supplements affect the agouti gene?

They inhibit its expression through DNA methylation. Signup and view all the answers

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

Environmental differences can lead to varying health outcomes. Signup and view all the answers

Which factor is critical to the process of morphogenesis?

The organization of tissues and organs Signup and view all the answers

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

More pronounced differences in methylation patterns Signup and view all the answers

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

Obesity with yellow fur Signup and view all the answers

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

DNA methylation Signup and view all the answers

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

It serves as a model for studying gene-environment interactions. Signup and view all the answers

What evidence is provided by studying monozygotic twins regarding epigenetics?

Their epigenomes can differ significantly despite identical genetics. Signup and view all the answers

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

They methylate CpG islands, which can silence genes. Signup and view all the answers

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

Methylation can determine whether housekeeping genes are active or inactive. Signup and view all the answers

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

Impairment of stem cell transition leading to diseases such as leukemia. Signup and view all the answers

Which of the following factors can influence DNA methylation?

Environmental toxins and dietary components. Signup and view all the answers

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

Through the metabolism of dietary components like methionine. Signup and view all the answers

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

0 points Signup and view all the answers

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

It accurately illustrates important pathways. Signup and view all the answers

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

3 points Signup and view all the answers

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

The figure is basic but lacks clarity or detailed steps. Signup and view all the answers

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

The figure includes some original elements. Signup and view all the answers

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

The figure illustrates important pathways but lacks comprehensive clarity. Signup and view all the answers

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

The figure has missing details or clarity issues. Signup and view all the answers

What is required regarding margins on the document?

1 inch margins should be respected on all sides Signup and view all the answers

What spacing format is required for the document?

Single spaced Signup and view all the answers

Which of the following font types is NOT allowed?

Helvetica Signup and view all the answers

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

It will not be accepted Signup and view all the answers

What formatting must be avoided regarding headings?

Not using headings and subheadings Signup and view all the answers

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

Points will be deducted Signup and view all the answers

What is a common misconception regarding document length?

The one-page limit is flexible Signup and view all the answers

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

To package large amounts of DNA into a compact structure Signup and view all the answers

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

46 Signup and view all the answers

What is the composition of sex chromosomes in humans?

One homologous pair and one unpaired Signup and view all the answers

What are sister chromatids?

Two identical copies formed after DNA replication Signup and view all the answers

What do haploid cells contain?

One complete set of chromosomes Signup and view all the answers

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

They separate into daughter cells Signup and view all the answers

What is a characteristic of autosomal chromosomes in humans?

They comprise the majority of chromosomes Signup and view all the answers

What is the relationship between homozygous chromosomes and homologous pairs?

Both contain identical alleles from both parents Signup and view all the answers

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

Through genetic recombination during meiosis Signup and view all the answers

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

The replication of each original chromosome Signup and view all the answers

How do histone modifications influence chromatin activity?

They affect the recruitment of non-histone proteins. Signup and view all the answers

Which statement best defines the term 'epigenome'?

The overall epigenetic state of a cell. Signup and view all the answers

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

Genetic mutations Signup and view all the answers

What are epigenetic marks primarily involved in?

Silencing or activating gene expression. Signup and view all the answers

Which of these correctly describes a characteristic of epigenetics?

It is reversible and influenced by external factors. Signup and view all the answers

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

The potential pathways that cells can follow during development. Signup and view all the answers

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

Lysine Signup and view all the answers

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

Histone modification maintenance. Signup and view all the answers

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

The epigenetic landscape model. Signup and view all the answers

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.

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

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.