Biology Chapter on Reproduction and Epigenetics
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Questions and Answers

What is the primary difference between queen bees and worker bees?

  • Their physical size
  • Their diet (correct)
  • Their ability to fly
  • Their genetic makeup
  • Rats that are groomed more by their mothers tend to become more anxious adults.

    False (B)

    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.

    <p>brown</p> Signup and view all the answers

    Match the following epigenetic controls with their descriptions:

    <p>DNA methylation = Addition of a methyl group to DNA Histone modifications = Changes to histone proteins that affect DNA accessibility Chromatin remodeling = Rearrangement of chromatin structure.</p> Signup and view all the answers

    What is a primary advantage of epigenetic therapy compared to directly altering DNA sequences?

    <p>It is easier to turn genes on and off (D)</p> Signup and view all the answers

    The first IVF baby was conceived on the 25th of July, 1978.

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

    How long was the incubation period for the egg and sperm in the first IVF attempt mentioned, before implantation?

    <p>21 days</p> Signup and view all the answers

    Successful reproduction requires healthy gametes, a place for fertilization to occur, and a place for the baby to ______.

    <p>develop</p> Signup and view all the answers

    Match the following components of normal reproduction with their function or location:

    <p>Healthy gametes = Essential for fertilization Fallopian tubes = Where fertilization can occur Uterus = Where the baby developed</p> Signup and view all the answers

    What percentage of couples are affected by infertility?

    <p>Approximately 1 in 6 (D)</p> Signup and view all the answers

    Male infertility is the cause in approximately 60% of all infertility cases.

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

    After how many months of trying to conceive, should a couple over 35 years old seek medical advice regarding infertility?

    <p>6</p> Signup and view all the answers

    Couples who have not had a child yet are said to have ________ infertility.

    <p>primary</p> Signup and view all the answers

    Which of the following is NOT a listed cause of female infertility?

    <p>High estrogen levels (A)</p> Signup and view all the answers

    The chance of conception each month is always 100%.

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

    Match the type of infertility with its description:

    <p>Primary infertility = Couples that have not had a child yet Secondary infertility = Couples that already have a child</p> Signup and view all the answers

    What is a condition where the endometrium grows in abnormal locations?

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

    What are two physical causes of female infertility?

    <p>Ovarian issues, blocked fallopian tubes, endometriosis or hormonal issues.</p> Signup and view all the answers

    At which position of the cytosine carbon ring does DNA methylation occur?

    <p>5' (B)</p> Signup and view all the answers

    The chances of infertility increase with female ________.

    <p>age</p> Signup and view all the answers

    DNA methylation always promotes transcription.

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

    What is the name of the enzyme that adds methyl groups to DNA?

    <p>DNA methyl transferase</p> Signup and view all the answers

    During base flipping, cytosine is rotated ______ degrees.

    <p>180</p> Signup and view all the answers

    Match the histone modification with the amino acid(s) it affects:

    <p>Methylation = Lys and Arg Acetylation = Lys Phosphorylation = Ser and Thr Ubiquitination = Lys</p> Signup and view all the answers

    Which of the following histone modifications is directly associated with gene expression?

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

    Acetylation of histones neutralizes the positive charge on the histone tail.

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

    What is required for ATP-dependent chromatin remodeling?

    <p>energy from ATP</p> Signup and view all the answers

    Long non-coding RNAs are more than ______ nucleotides in length.

    <p>200</p> Signup and view all the answers

    Which of the following is NOT a mode of action for lncRNAs?

    <p>Direct protein synthesis (A)</p> Signup and view all the answers

    Short non-coding RNAs (sncRNA) cause methylation and turn off FMR1, due to 200 CGG repeats within the gene.

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

    What is the name of the protein that is mutated in Rett Syndrome?

    <p>MeCP2</p> Signup and view all the answers

    In cancer cells, telomerase can cause ______ cell divisions.

    <p>unlimited</p> Signup and view all the answers

    Which of the following is associated with gene silencing in cancer?

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

    Match the cancer phenotype with the epigenetic modification:

    <p>Gene Overexpression = Hypomethylation Gene Silencing = Hypermethylation Tumour Suppressor Gene Repression = Deacetylation of histone 4, lysine 16</p> Signup and view all the answers

    Epigenetics refers to changes in gene expression that occur without altering which of the following?

    <p>The DNA sequence (C)</p> Signup and view all the answers

    All cells in an organism have the same pattern of gene expression.

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

    What is the term for the process where epigenetic tags are removed from sperm and egg cells shortly after fertilization?

    <p>reprogramming</p> Signup and view all the answers

    The cells in an embryo can develop into anything; this is possible because they ________.

    <p>remember</p> Signup and view all the answers

    Match the following syndromes with their descriptions:

    <p>Prader-Willi Syndrome = Learning difficulties, short stature, compulsive eating Angelman Syndrome = Learning difficulties, speech problems, seizures, jerky movements, unusually happy Beckwith-Wiedemann Syndrome = Overgrowth</p> Signup and view all the answers

    What is the main component of the epigenome?

    <p>Chemical modifications of DNA and histones (D)</p> Signup and view all the answers

    Epigenetic tags are always erased before being passed on to offspring.

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

    What is the term for when one parent’s copy of a gene is silenced due to epigenetic tags?

    <p>imprinting</p> Signup and view all the answers

    During cell division, epigenetic tags are ________ in the daughter cells ensuring that function is maintained.

    <p>copied</p> Signup and view all the answers

    Match the following nutrients with their epigenetic roles:

    <p>Resveratrol = Removes acetyl from histones Sulforaphane = Increased histone acetylation Vitamin B12 = Methionine synthesis</p> Signup and view all the answers

    Which of the following is NOT a source of signals that can change a cell's epigenome?

    <p>Exposure to light (B)</p> Signup and view all the answers

    Malnutrition in the first trimester of pregnancy has a direct effect on an infant's birth weight.

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

    What is the name of the gene in all mammals that determines coat color and if unmethylated can lead to obesity?

    <p>Agouti</p> Signup and view all the answers

    When an epigenomic change is seen through many generations, it is referred to as ________.

    <p>inheritance</p> Signup and view all the answers

    Match the following term with their description:

    <p>Epigenetics = Chemical modifications that change gene expression Epigenome = Overall pattern of epigenetic modifications Imprinting = Silencing of one parental copy of a gene</p> Signup and view all the answers

    What is the approximate percentage of menstruating women affected by endometriosis?

    <p>10% (A)</p> Signup and view all the answers

    Maternal spindle transfer involves swapping material between the mother and donor egg after fertilization.

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

    What is the primary purpose of pre-implantation genetic diagnosis (PGD)?

    <p>To test embryos for genetic disorders before implantation</p> Signup and view all the answers

    Newborn screening tests in Australia are typically done via a ________ and blood collection.

    <p>heel prick</p> Signup and view all the answers

    Match the following genetic testing methods with their descriptions:

    <p>Carrier testing = Done on families with a history of disease to detect carriers Prenatal testing = Testing done on a fetus to detect genetic disorders Newborn screening = Testing done on newborns, typically via a heel prick, to screen for various conditions Pre-implantation Genetic Diagnosis (PGD) = Testing for genetic disorders on embryos before they are implanted</p> Signup and view all the answers

    Which of the following is NOT a common risk associated with ART (Assisted Reproductive Technology)?

    <p>Decreased risk of premature births (A)</p> Signup and view all the answers

    Genetic screening is always voluntary

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

    What are two main methods used in creating multi-parent babies?

    <p>Maternal spindle transfer and pronuclear transfer</p> Signup and view all the answers

    Polar body biopsy is used to test _________ before fertilisation.

    <p>eggs</p> Signup and view all the answers

    Match the following gene therapy terms with their definitions:

    <p>Somatic Gene Therapy = Gene therapy that targets body cells Germ-line Gene Therapy = Gene therapy that targets sperm and egg cells Enhancement Gene Therapy = Gene therapy used to enhance specific traits</p> Signup and view all the answers

    Which of the following is a potential risk associated with viral vectors in gene therapy?

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

    In gene therapy, viral DNA does not integrate into human chromosomes.

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

    What is the main goal of gene therapy?

    <p>To correct mutated genes</p> Signup and view all the answers

    A common method for gene delivery in gene therapy uses _________ as vectors.

    <p>viruses</p> Signup and view all the answers

    What is one primary purpose of genetic counseling?

    <p>To explain risks of certain diseases to families (D)</p> Signup and view all the answers

    Flashcards

    Epigenetics and Diet

    Dietary changes can alter an organism's epigenome which can lead to changes in development and behavior.

    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 factors, such as nutritional deficiencies or excessive consumption of certain substances, can influence epigenetic modifications.

    DNA Methylation

    The attachment of methyl groups to DNA, typically near gene promoters, which can repress gene expression.

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    Histone Modifications

    Modifications to histone proteins (which package DNA), such as acetylation or methylation, can alter chromatin structure and affect gene expression.

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    Hypermethylation

    The process of adding a methyl group (CH3) to a DNA molecule, which can silence gene expression.

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    Epigenetic Therapy

    A therapy that targets epigenetic changes, such as hypermethylation, to alter gene expression.

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    In Vitro Fertilization (IVF)

    A technique that involves combining an egg and sperm in a laboratory setting to create an embryo, which is later implanted in the uterus.

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    Louise Brown

    The first successful IVF baby, born in 1978, marked a landmark in reproductive technology and opened up possibilities for infertile couples.

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    Successful Reproduction Requirements

    Essential components for successful reproduction, including healthy eggs and sperm, a site for fertilization, and a safe environment for the baby to develop.

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    Infertility

    The inability of a couple to conceive after one year of trying, or after six months if the woman is over 35 years old.

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    Primary Infertility

    This type of infertility refers to couples who have never had a child before.

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    Secondary Infertility

    This type of infertility refers to couples who have had a child in the past.

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    Polycystic Ovarian Syndrome (PCOS)

    A condition that affects the ovaries, potentially causing irregular periods, infertility, and other health issues.

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    Estrogen

    A hormone crucial for the development and functioning of the female reproductive system.

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    Endometrium

    The lining of the uterus, which sheds during menstruation.

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    Endometriosis

    A condition where the tissue that normally lines the uterus grows outside of it, often causing pain, irregular bleeding, and infertility.

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    Blocked fallopian tubes

    A condition where the fallopian tubes become blocked, preventing sperm from reaching the egg.

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    Damaged fallopian tubes

    A condition where the fallopian tubes are damaged, potentially making it difficult or impossible for a woman to conceive.

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    Female Age & Fertility

    The age of the female partner is a key factor in infertility. The likelihood of conceiving decreases as the age of the female increases.

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    What is epigenetics?

    Epigenetics is the study of how changes in gene expression occur without altering the DNA sequence. It involves chemical modifications that control how and when our cells read the genetic blueprint.

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    What is the epigenome?

    The epigenome is the complete set of epigenetic modifications in an organism. It determines which genes are turned on or off in different cells, influencing their function and development.

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    How is the epigenome different in various cells?

    All cells in an organism share the same set of genes (genome). However, the epigenome dictates which genes are active in specific cells, resulting in diverse cell types and functions.

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    Why is epigenome reprogramming necessary in embryos?

    The epigenome must be reprogrammed during embryonic development to erase epigenetic tags inherited from parents. This allows embryonic cells to become any type of cell in the body.

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    How does epigenetic memory function?

    Epigenetic memory allows cells to maintain their identity and function. Once a cell specializes, epigenetic tags help ensure it stays on its developmental path.

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    Why is the epigenome changeable?

    The epigenome is constantly adapting and changing based on environmental cues and internal signals. These signals trigger changes in gene expression, allowing cells to respond to changing conditions.

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    What are the key influences on the changing epigenome?

    Internal signals, external factors, and hormonal signals influence the epigenome. These signals communicate with gene regulatory proteins, which control gene expression by adding or removing epigenetic tags.

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    What is the role of gene regulatory proteins?

    Gene regulatory proteins are like molecular switches that can turn genes on or off. They either act directly or recruit enzymes to add or remove epigenetic tags, controlling gene expression.

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    What is epigenetic inheritance through imprinting?

    Imprinting is a type of epigenetic inheritance where certain genes are silenced based on which parent they come from. This typically happens during gamete production and the epigenetic tag remains for life.

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    How does imprinting relate to developmental disorders?

    Imprinting is crucial for proper development. Having two active copies or no active copies of an imprinted gene can lead to developmental disorders, like Prader-Willi syndrome or Angelman syndrome.

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    What is the evidence for epigenetic inheritance without imprinting?

    Some epigenetic tags can be passed down through generations without imprinting, although proving this is complex. Changes in the epigenome across generations need to be observed over many generations to be confirmed.

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    How did the Dutch Hunger Winter influence the epigenome?

    The Dutch Hunger Winter provides a unique study group to examine the long-term effects of famine on the epigenome. Malnutrition during pregnancy, especially in the first trimester, was linked to changes in birth weight and later health outcomes in offspring.

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    How does diet affect the epigenome?

    Dietary components, especially those containing epigenetic modifiers like acetyl and methyl groups, play a crucial role in shaping the epigenome. These modifications have the potential to alter gene expression and influence health outcomes.

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    How does the Agouti gene exemplify epigenetic effects?

    The Agouti gene in mammals demonstrates the impact of epigenetic modifications on phenotypes. Methylation of the Agouti gene leads to normal brown mice, while lack of methylation results in fat, yellow mice.

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    How does diet throughout life influence the epigenome?

    The diet of the pregnant mother can have lasting effects on the offspring's epigenome. Similarly, the infant's diet can influence their lifelong health. Even in adults, dietary changes can affect gene expression, though these effects may be reversible.

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    What are DNA methyltransferases (DNMTs)?

    DNA methyltransferases (DNMTs) are enzymes responsible for catalyzing the addition of methyl groups to DNA. There are different types of DNMTs, including de novo DNMTs that establish methylation patterns and maintenance DNMTs that maintain these patterns during DNA replication.

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    Base flipping in DNA methylation

    A process where a cytosine base within DNA is flipped 180 degrees. This allows DNA methyltransferases (DNMTs) to access and directly interact with the cytosine base, facilitating the methylation process.

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    Passive DNA demethylation

    A natural process of DNA methylation loss during DNA replication. It occurs when the newly synthesized DNA strand lacks the methyl group, resulting in a decrease in methylation levels over time.

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    Active DNA demethylation

    An active process that involves specific enzymes removing methyl groups from DNA. This is a controlled process, unlike passive demethylation, and involves pathways like base excision repair or mismatch repair.

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    Histone tails

    Protrusions from histone proteins that are the target of various modifications, including methylation, acetylation, phosphorylation, and ubiquitination. These modifications play a crucial role in regulating gene expression by altering the structure of chromatin.

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    Histone methylation

    A histone modification where a methyl group is added to lysine or arginine residues. Unlike acetylation, methylation doesn't have a single effect on gene expression. It can either repress or activate transcription depending on the specific amino acid residues modified.

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    Histone methyltransferases (HMTs)

    Enzymes responsible for adding methyl groups to histone proteins, specifically at lysine or arginine residues. These enzymes play a significant role in regulating chromatin structure and gene expression.

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    Histone demethylases (HDMs)

    Enzymes that remove methyl groups from histone proteins, reversing the effects of histone methylation. They help regulate gene expression by maintaining dynamic control over chromatin structure.

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    Histone acetylation

    A histone modification where an acetyl group is added to lysine residues. This typically leads to increased gene expression, as acetylation makes DNA more accessible to transcription factors.

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    Histone acetyltransferase (HAT)

    Enzymes responsible for adding acetyl groups to histone tails, often leading to increased gene expression.

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    Histone deacetylase (HDAC)

    Enzymes that remove acetyl groups from histone tails, often resulting in decreased gene expression.

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    Chromatin remodeling

    A process that involves altering the positioning and structure of nucleosomes. This requires energy from ATP (adenosine triphosphate) and can involve moving, ejecting, or restructuring nucleosomes to regulate gene expression.

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    Long non-coding RNA (lncRNA)

    A type of non-coding RNA, over 200 nucleotides long, involved in various cellular processes, including development and regulation of gene expression. It plays diverse roles by interacting with DNA, RNA, and proteins.

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    Short non-coding RNA (sncRNA)

    A short non-coding RNA segment containing around 200 CGG repeats within a gene. It leads to methylation and silencing of the FMR1 gene, contributing to fragile X syndrome.

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    Multi-Parent Babies (IVF)

    A technique used to overcome mitochondrial disorders, where the mother's chromosomes are combined with a donor's mitochondria, resulting in a baby with genetic material from three individuals.

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    Maternal Spindle Transfer (MST)

    A method for multi-parent IVF where material is swapped between the mother and donor egg before fertilization. The mother's nucleus is implanted inside the donor's egg.

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    Pronuclear Transfer (PNT)

    A method for multi-parent IVF where material is swapped between the mother and donor egg after fertilization. The mother's nucleus is replaced with the donor's nucleus after fertilization.

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    Ovarian Hyperstimulation Syndrome (OHSS)

    A condition characterized by enlarged, fluid-filled ovaries. It can occur as a side effect of fertility medications.

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    Premature birth

    A condition where a baby is born earlier than 37 weeks of gestation. It can be a consequence of IVF, but can also occur naturally.

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    Low birth weight

    A newborn weighing less than 5.5 pounds (2.5 kg) at birth. It can be a risk associated with IVF and other factors.

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    Ectopic pregnancy

    A condition where a fertilized egg implants outside the uterus, typically in the fallopian tube. It can occur after IVF.

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    Male Infertility

    The inability of a male to father a child due to problems with sperm production, sperm delivery, or other factors. It can lead to the use of assisted reproductive technologies.

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    Assisted Reproductive Technology (ART)

    The use of laboratory techniques to assist with reproduction. It involves various techniques such as IVF, sperm donation, and egg donation.

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    Genetic Testing

    A type of genetic testing that is performed voluntarily and aims to identify individuals who carry disease genes.

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    Genetic Screening

    A type of genetic testing that may be required by law in certain situations. It helps to identify populations at high risk for a specific disease.

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    Newborn Screening Tests

    A test performed on newborns shortly after birth to identify certain genetic conditions. The test involves a heel prick and blood collection.

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    Carrier Testing

    A genetic test performed on families or specific ethnic groups with a history of a particular disease. It helps to identify carriers and the risk of passing on the disease.

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    Prenatal Testing

    A type of genetic testing performed on a fetus during pregnancy. It can involve techniques like ultrasound, amniocentesis, and chorionic villus sampling.

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    Preimplantation Genetic Diagnosis (PGD)

    A process that involves examining and testing embryos at the 6-8 cell stage after fertilization. It is used to diagnose genetic disorders and select embryos for implantation.

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    Polar Body Biopsy

    A type of prenatal testing that involves examining the polar body of an egg before fertilization. It helps to identify the X-chromosome and determine the risk of X-linked diseases.

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    Gene Therapy

    A technique that involves using recombinant DNA technologies to correct defective genes. A normal gene is inserted to produce a functional protein.

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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.

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