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Questions and Answers
What is the primary difference between queen bees and worker bees?
What is the primary difference between queen bees and worker bees?
Rats that are groomed more by their mothers tend to become more anxious adults.
Rats that are groomed more by their mothers tend to become more anxious adults.
False (B)
What is one epigenetic change associated with schizophrenia?
What is one epigenetic change associated with schizophrenia?
Under-methylation of the REELIN gene
A methyl-rich diet in mice resulted in pups that were mostly ______ and healthy.
A methyl-rich diet in mice resulted in pups that were mostly ______ and healthy.
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Match the following epigenetic controls with their descriptions:
Match the following epigenetic controls with their descriptions:
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What is a primary advantage of epigenetic therapy compared to directly altering DNA sequences?
What is a primary advantage of epigenetic therapy compared to directly altering DNA sequences?
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The first IVF baby was conceived on the 25th of July, 1978.
The first IVF baby was conceived on the 25th of July, 1978.
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How long was the incubation period for the egg and sperm in the first IVF attempt mentioned, before implantation?
How long was the incubation period for the egg and sperm in the first IVF attempt mentioned, before implantation?
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Successful reproduction requires healthy gametes, a place for fertilization to occur, and a place for the baby to ______.
Successful reproduction requires healthy gametes, a place for fertilization to occur, and a place for the baby to ______.
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Match the following components of normal reproduction with their function or location:
Match the following components of normal reproduction with their function or location:
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What percentage of couples are affected by infertility?
What percentage of couples are affected by infertility?
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Male infertility is the cause in approximately 60% of all infertility cases.
Male infertility is the cause in approximately 60% of all infertility cases.
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After how many months of trying to conceive, should a couple over 35 years old seek medical advice regarding infertility?
After how many months of trying to conceive, should a couple over 35 years old seek medical advice regarding infertility?
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Couples who have not had a child yet are said to have ________ infertility.
Couples who have not had a child yet are said to have ________ infertility.
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Which of the following is NOT a listed cause of female infertility?
Which of the following is NOT a listed cause of female infertility?
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The chance of conception each month is always 100%.
The chance of conception each month is always 100%.
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Match the type of infertility with its description:
Match the type of infertility with its description:
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What is a condition where the endometrium grows in abnormal locations?
What is a condition where the endometrium grows in abnormal locations?
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What are two physical causes of female infertility?
What are two physical causes of female infertility?
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At which position of the cytosine carbon ring does DNA methylation occur?
At which position of the cytosine carbon ring does DNA methylation occur?
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The chances of infertility increase with female ________.
The chances of infertility increase with female ________.
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DNA methylation always promotes transcription.
DNA methylation always promotes transcription.
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What is the name of the enzyme that adds methyl groups to DNA?
What is the name of the enzyme that adds methyl groups to DNA?
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During base flipping, cytosine is rotated ______ degrees.
During base flipping, cytosine is rotated ______ degrees.
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Match the histone modification with the amino acid(s) it affects:
Match the histone modification with the amino acid(s) it affects:
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Which of the following histone modifications is directly associated with gene expression?
Which of the following histone modifications is directly associated with gene expression?
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Acetylation of histones neutralizes the positive charge on the histone tail.
Acetylation of histones neutralizes the positive charge on the histone tail.
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What is required for ATP-dependent chromatin remodeling?
What is required for ATP-dependent chromatin remodeling?
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Long non-coding RNAs are more than ______ nucleotides in length.
Long non-coding RNAs are more than ______ nucleotides in length.
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Which of the following is NOT a mode of action for lncRNAs?
Which of the following is NOT a mode of action for lncRNAs?
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Short non-coding RNAs (sncRNA) cause methylation and turn off FMR1, due to 200 CGG repeats within the gene.
Short non-coding RNAs (sncRNA) cause methylation and turn off FMR1, due to 200 CGG repeats within the gene.
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What is the name of the protein that is mutated in Rett Syndrome?
What is the name of the protein that is mutated in Rett Syndrome?
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In cancer cells, telomerase can cause ______ cell divisions.
In cancer cells, telomerase can cause ______ cell divisions.
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Which of the following is associated with gene silencing in cancer?
Which of the following is associated with gene silencing in cancer?
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Match the cancer phenotype with the epigenetic modification:
Match the cancer phenotype with the epigenetic modification:
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Epigenetics refers to changes in gene expression that occur without altering which of the following?
Epigenetics refers to changes in gene expression that occur without altering which of the following?
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All cells in an organism have the same pattern of gene expression.
All cells in an organism have the same pattern of gene expression.
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What is the term for the process where epigenetic tags are removed from sperm and egg cells shortly after fertilization?
What is the term for the process where epigenetic tags are removed from sperm and egg cells shortly after fertilization?
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The cells in an embryo can develop into anything; this is possible because they ________.
The cells in an embryo can develop into anything; this is possible because they ________.
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Match the following syndromes with their descriptions:
Match the following syndromes with their descriptions:
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What is the main component of the epigenome?
What is the main component of the epigenome?
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Epigenetic tags are always erased before being passed on to offspring.
Epigenetic tags are always erased before being passed on to offspring.
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What is the term for when one parent’s copy of a gene is silenced due to epigenetic tags?
What is the term for when one parent’s copy of a gene is silenced due to epigenetic tags?
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During cell division, epigenetic tags are ________ in the daughter cells ensuring that function is maintained.
During cell division, epigenetic tags are ________ in the daughter cells ensuring that function is maintained.
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Match the following nutrients with their epigenetic roles:
Match the following nutrients with their epigenetic roles:
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Which of the following is NOT a source of signals that can change a cell's epigenome?
Which of the following is NOT a source of signals that can change a cell's epigenome?
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Malnutrition in the first trimester of pregnancy has a direct effect on an infant's birth weight.
Malnutrition in the first trimester of pregnancy has a direct effect on an infant's birth weight.
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What is the name of the gene in all mammals that determines coat color and if unmethylated can lead to obesity?
What is the name of the gene in all mammals that determines coat color and if unmethylated can lead to obesity?
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When an epigenomic change is seen through many generations, it is referred to as ________.
When an epigenomic change is seen through many generations, it is referred to as ________.
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Match the following term with their description:
Match the following term with their description:
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What is the approximate percentage of menstruating women affected by endometriosis?
What is the approximate percentage of menstruating women affected by endometriosis?
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Maternal spindle transfer involves swapping material between the mother and donor egg after fertilization.
Maternal spindle transfer involves swapping material between the mother and donor egg after fertilization.
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What is the primary purpose of pre-implantation genetic diagnosis (PGD)?
What is the primary purpose of pre-implantation genetic diagnosis (PGD)?
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Newborn screening tests in Australia are typically done via a ________ and blood collection.
Newborn screening tests in Australia are typically done via a ________ and blood collection.
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Match the following genetic testing methods with their descriptions:
Match the following genetic testing methods with their descriptions:
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Which of the following is NOT a common risk associated with ART (Assisted Reproductive Technology)?
Which of the following is NOT a common risk associated with ART (Assisted Reproductive Technology)?
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Genetic screening is always voluntary
Genetic screening is always voluntary
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What are two main methods used in creating multi-parent babies?
What are two main methods used in creating multi-parent babies?
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Polar body biopsy is used to test _________ before fertilisation.
Polar body biopsy is used to test _________ before fertilisation.
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Match the following gene therapy terms with their definitions:
Match the following gene therapy terms with their definitions:
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Which of the following is a potential risk associated with viral vectors in gene therapy?
Which of the following is a potential risk associated with viral vectors in gene therapy?
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In gene therapy, viral DNA does not integrate into human chromosomes.
In gene therapy, viral DNA does not integrate into human chromosomes.
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What is the main goal of gene therapy?
What is the main goal of gene therapy?
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A common method for gene delivery in gene therapy uses _________ as vectors.
A common method for gene delivery in gene therapy uses _________ as vectors.
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What is one primary purpose of genetic counseling?
What is one primary purpose of genetic counseling?
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Flashcards
Epigenetics and Diet
Epigenetics and Diet
Dietary changes can alter an organism's epigenome which can lead to changes in development and behavior.
Epigenome
Epigenome
A pattern of chemical modifications on DNA and associated proteins that regulate gene expression without altering the underlying DNA sequence.
Dietary Influence on Epigenome
Dietary Influence on Epigenome
Dietary factors, such as nutritional deficiencies or excessive consumption of certain substances, can influence epigenetic modifications.
DNA Methylation
DNA Methylation
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Histone Modifications
Histone Modifications
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Hypermethylation
Hypermethylation
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Epigenetic Therapy
Epigenetic Therapy
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In Vitro Fertilization (IVF)
In Vitro Fertilization (IVF)
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Louise Brown
Louise Brown
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Successful Reproduction Requirements
Successful Reproduction Requirements
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Infertility
Infertility
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Primary Infertility
Primary Infertility
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Secondary Infertility
Secondary Infertility
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Polycystic Ovarian Syndrome (PCOS)
Polycystic Ovarian Syndrome (PCOS)
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Estrogen
Estrogen
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Endometrium
Endometrium
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Endometriosis
Endometriosis
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Blocked fallopian tubes
Blocked fallopian tubes
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Damaged fallopian tubes
Damaged fallopian tubes
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Female Age & Fertility
Female Age & Fertility
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What is epigenetics?
What is epigenetics?
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What is the epigenome?
What is the epigenome?
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How is the epigenome different in various cells?
How is the epigenome different in various cells?
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Why is epigenome reprogramming necessary in embryos?
Why is epigenome reprogramming necessary in embryos?
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How does epigenetic memory function?
How does epigenetic memory function?
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Why is the epigenome changeable?
Why is the epigenome changeable?
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What are the key influences on the changing epigenome?
What are the key influences on the changing epigenome?
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What is the role of gene regulatory proteins?
What is the role of gene regulatory proteins?
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What is epigenetic inheritance through imprinting?
What is epigenetic inheritance through imprinting?
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How does imprinting relate to developmental disorders?
How does imprinting relate to developmental disorders?
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What is the evidence for epigenetic inheritance without imprinting?
What is the evidence for epigenetic inheritance without imprinting?
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How did the Dutch Hunger Winter influence the epigenome?
How did the Dutch Hunger Winter influence the epigenome?
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How does diet affect the epigenome?
How does diet affect the epigenome?
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How does the Agouti gene exemplify epigenetic effects?
How does the Agouti gene exemplify epigenetic effects?
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How does diet throughout life influence the epigenome?
How does diet throughout life influence the epigenome?
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What are DNA methyltransferases (DNMTs)?
What are DNA methyltransferases (DNMTs)?
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Base flipping in DNA methylation
Base flipping in DNA methylation
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Passive DNA demethylation
Passive DNA demethylation
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Active DNA demethylation
Active DNA demethylation
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Histone tails
Histone tails
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Histone methylation
Histone methylation
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Histone methyltransferases (HMTs)
Histone methyltransferases (HMTs)
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Histone demethylases (HDMs)
Histone demethylases (HDMs)
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Histone acetylation
Histone acetylation
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Histone acetyltransferase (HAT)
Histone acetyltransferase (HAT)
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Histone deacetylase (HDAC)
Histone deacetylase (HDAC)
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Chromatin remodeling
Chromatin remodeling
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Long non-coding RNA (lncRNA)
Long non-coding RNA (lncRNA)
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Short non-coding RNA (sncRNA)
Short non-coding RNA (sncRNA)
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Multi-Parent Babies (IVF)
Multi-Parent Babies (IVF)
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Maternal Spindle Transfer (MST)
Maternal Spindle Transfer (MST)
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Pronuclear Transfer (PNT)
Pronuclear Transfer (PNT)
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Ovarian Hyperstimulation Syndrome (OHSS)
Ovarian Hyperstimulation Syndrome (OHSS)
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Premature birth
Premature birth
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Low birth weight
Low birth weight
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Ectopic pregnancy
Ectopic pregnancy
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Male Infertility
Male Infertility
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Assisted Reproductive Technology (ART)
Assisted Reproductive Technology (ART)
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Genetic Testing
Genetic Testing
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Genetic Screening
Genetic Screening
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Newborn Screening Tests
Newborn Screening Tests
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Carrier Testing
Carrier Testing
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Prenatal Testing
Prenatal Testing
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Preimplantation Genetic Diagnosis (PGD)
Preimplantation Genetic Diagnosis (PGD)
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Polar Body Biopsy
Polar Body Biopsy
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Gene Therapy
Gene Therapy
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Study Notes
Week 9 - Part A: Identically Different - Introducing Epigenetics
- Epigenetics is "on top of" genetics.
- It involves chemical modifications to DNA and/or histones, altering gene expression patterns without changing the DNA sequence.
- Epigenetics directs how cells read the DNA blueprint, when to activate specific genes, and can be either inherited or acquired.
What is the Epigenome?
- All cells share the same genes but have different gene expression patterns.
Epigenome Must be Reprogrammed
- Embryos form from sperm and egg, both with epigenetic tags.
- These tags need to be removed, enabling embryonic cells to become any cell type.
- Sometimes epigenetic tags escape this reprogramming and are passed on to future generations.
Epigenome Remembers
- Gene expression changes are regulated, and cells retain these expressions.
- Epigenetic memory is crucial for cells to develop correctly.
- Epigenetic tags are copied during cell division.
- Cell function is maintained.
Epigenome is Changeable
- Cells constantly react to signals from inside and outside the cell, adjusting their functions accordingly.
- Gene expression is regulated based on cell needs.
- Cells react to signals from themselves, neighboring cells and the environment.
- Epigenome is influenced by hormones and environmental factors.
- Proteins bring signals to the DNA.
- Gene expression is modified by environmental factors, hormones, and signals from other cells.
Gene Regulatory Proteins
- These proteins can switch genes on and off, or recruit enzymes to modify epigenetic tags.
Epigenetic Inheritance - Imprinting
- Some epigenetic tags can be passed to subsequent generations.
- Depending on the gene, the copy from one parent is silenced.
- This typically happens during gamete production.
- Epigenetic tags are permanent.
- Specific genes are usually silenced in egg and sperm cells.
Epigenetic Inheritance - Imprinting (continued)
- Imprinting is necessary for normal development.
- Diseases can result from having the wrong number of active genes.
- Examples of diseases due to incorrect imprinting include Prader-Willi Syndrome and Angelman Syndrome.
- These involve specific gene silencing.
Epigenetic Inheritance - Imprinting (continued)
- Some epigenetic tags are passed on to the next generation without imprinting.
- These tags are difficult to prove, as the epigenome adapts to circumstances.
- Epigenetic changes can be seen across many generations.
Nutrition and the Epigenome
- Diet influences the epigenome, especially foods providing acetyl and methyl groups.
- Specific foods can facilitate gene expression.
Nutrition and the Epigenome (continued)
- All mammals have an Agouti gene.
- Methylated agouti = brown color, normal development
- Unmethylated agouti = yellow color, can be obese, prone to cancer, and diabetes.
Nutrition and the Epigenome (continued)
- Queen bees and worker bees have identical genetics, but their diets affect their traits.
- Epigenetic factors can impact behavior (e.g. in rats).
Epigenome and Behavior
- Epigenetic memory guides cell development.
- Early life experiences can leave epigenetic marks.
- Differences in epigenetic modifications have been observed between individuals with mental illnesses and healthy controls.
Epigenetic Controls
- DNA methylation: Adding a methyl group to DNA.
- Histone modifications: Modifying histones, which package DNA.
- Chromatin re-modelling: Changes in chromatin structure.
- Non-coding RNA: RNA molecules that don’t code for proteins.
DNA Methylation
- Adds a methyl group (CH3) to cytosine bases in DNA.
- Often occurs in CpG islands.
- Two types of methylation are de novo and maintenance.
DNA Methylation - Base Flipping
- DNMTs need access to cytosine.
- Base flipping involves rotating cytosine.
DNA Demethylation
- Involves loss of methyl groups.
- Two mechanisms, passive (during replication) and active.
Histone Modifications (continued)
- Histone tails protrude from the nucleosome, and can be altered to change gene expression.
- Methylation targets lysines and arginines.
- Acetylation targets lysines.
- Phosphorylation targets serine and threonine residues.
- Ubiquitination targets lysines.
Histone Methylation
- Can repress or promote transcription.
- It's a reversible modification.
Acetylation
- Acetylation of certain lysines on histones can activate or repress gene expression.
- Acetylation neutralizes positive charge on histone tails.
Other Chromatin Re-modelling
- ATP-dependent chromatin remodeling enzymes can reposition or exchange histones to alter DNA accessibility.
- Non-coding RNAs, specifically long ncRNAs, can regulate gene expression through various mechanisms.
Non-Coding RNA
- RNA molecules that do not code for proteins are synthesized from DNA.
- They affect a variety of processes.
Non-Coding RNA- sncRNA
- Short RNA molecules, such as miRNA and siRNA, affect gene expression.
The Epigenome and Twins
- Identical twins have largely identical genes, but their epigenomes can differ over time due to environmental exposures.
Twins and Epigenetic Disease
- Differences in epigenetic modifications can influence disease susceptibility, even in identical twins.
DNA Methylation and Cancer
- Hypomethylation: Increased gene activation, promoting cell growth.
- Hypermethylation: Gene silencing, affecting cell cycle control and DNA repair.
Histone Modification and Cancer
- Modification of histone proteins is associated with cancer.
Cancer in Twins - A Case Study
- Identical twins can differ in disease development despite identical genetic backgrounds.
- This highlights the role of environmental and lifestyle factors in impacting epigenetic modifications and disease onset.
Cancer in Twins - A Case Study continued
- Methylation patterns can contribute to the emergence of certain cancers.
Epigenetic Therapy
- Drugs are created to regulate epigenetic processes.
Week 9 - Part B: Reproductive Technology, Genetics & Gene Therapy
- First IVF baby was born in 1978.
- High rates of infertility exist due to many different causes.
Normal Reproduction
- Successful reproduction requires healthy gametes, fertilization site and suitable environment for development
- Infertility is quite common, around 10-15% of couples have some degree of infertility.
Infertility is Common
- Several causes for infertility exist in both males and females.
Infertility is Common (continued)
- Infertility rates increase with a woman's age.
Causes of Female Infertility
- Problems with the ovaries, hormones, blocked or damaged fallopian tubes, uterine blockages, and endometriosis are common causes of female infertility.
Causes of Male Infertility
- Low sperm count, poor sperm motility, lifestyle choices, and certain genetic factors are common causes of male infertility.
Other causes of Infertility
- Physical, chemical, and biological factors can affect fertility.
Assisted Reproductive Technologies (ART)
- Techniques used for conceiving when there are fertility issues.
Artificial Insemination
- Sperm is injected into a woman's uterus to facilitate fertilization.
Egg Retrieval or Donation
- Treatment to stimulate egg production for infertility or to obtain eggs for donation.
In-Vitro Fertilisation (IVF)
- Fertilization occurs outside the body in a controlled environment
- Embryos develop in a controlled environment and are implanted into the uterus.
Newer In-Vitro Fertilisation (IVF)
- Includes advanced techniques like ICSI and PICSI to improve chances of conception.
Gamete Intrafallopian Transfer (GIFT)
- A procedure to combine sperm and eggs that are placed directly into the fallopian tubes (not fertilized before).
Zygote Intrafallopian Transfer (ZIFT)
- A technique where eggs are fertilized in a lab and then transferred to the fallopian tubes, which are then allowed to finish their development.
Surrogacy
- A woman carries a pregnancy for another couple
- Surrogacy is a legal and ethical situation.
Newer Techniques – Multi-Parent Babies
- These techniques combine genetic materials from different sources to bypass infertility or mitochondrial issues.
Risks of Using ART
- Using ART carries potential health risks, such as ovarian hyperstimulation syndrome, multiple pregnancies, low birth weight, chromosomal abnormalities, ectopic pregnancies, and male infertility.
Genetic Testing and Screening
- Genetic testing and screening is used to identify carriers and individuals at high risk of genetic disorders.
- Newborn screening is done in hospitals across Australia.
Types of Tests Used
- Carrier testing.
- Prenatal testing (Prenatal diagnosis).
- Testing done on the foetus.
Ethics of Pre-natal Genetic Diagnosis
- Ethical considerations related to using genetic screening to choose desired traits in offspring.
Gene Therapy
- Recombinant DNA, inserted into cells
- Modifying genes for disease treatment.
Gene Therapy - What can Go Wrong?
- Risks of gene therapy include immune reactions to viral vectors (inserting genes with viruses), targeting the wrong cells or causing cancer.
Gene Therapy Issues & Successes
- Limited success to date but successes in treating certain diseases.
Ethical Issues of Gene Therapy
- Strict guidelines and monitoring of gene therapies are crucial.
Genetic Counselling
- Counselling involves explaining medical facts and genetic heredity aspects.
- Counselling provides a safe space for families to discuss their questions.
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Description
Test your knowledge on the differences between queen bees and worker bees, along with epigenetic changes and their implications in health and reproduction. This quiz also covers important milestones in reproductive technology and the factors affecting infertility. Hone your understanding of reproductive biology and epigenetic therapy.