Reproduction + Mutations Flashcards

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1
Q

What are labile (proliferative) cells?

A

Labile cells are found in the epithelium of skin, GI tract, and urinary tract, and they undergo the most rapid cell division due to constant shedding of cells.

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2
Q

What are hematopoietic stem cells?

A

Hematopoietic stem cells in the bone marrow produce platelets and blood cells.

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3
Q

What are stable cells?

A

Stable cells replicate only when stimulated by strong signals, such as growth factors. Examples include hepatocytes in the liver, epithelial cells in kidney tubules, and alveolar cells.

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4
Q

What are permanent cells?

A

Permanent cells do not return to the cell cycle, such as neurons, skeletal muscle, and cardiac muscle.

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5
Q

How are chromosomes counted?

A

Chromosomes are counted by the centromere.

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6
Q

What is the importance of the cell cycle?

A

The cell cycle is important for repairing damaged cells and tissues, allows a unicellular zygote to grow into a multicellular organism, and is essential for asexual reproduction.

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7
Q

What happens during the G-1 phase of interphase?

A

During the G-1 phase, the number of organelles increases, DNA is replicated, enzymes and transcription factors are produced, and thymine dimers (causes a stiff kink in DNA so DNA polymerase has difficulty reading it- factor causing skin cancer photo-lesions due to UV light) are repaired by scanning DNA before replication.

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8
Q

What happens during the S phase of interphase?

A

The S phase is the synthesis phase, where semi-conservative DNA replication occurs, and DNA polymerases are used to replicate DNA, increasing the chromosome number from 2n to 4n.

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9
Q

What happens during the G-2 phase of interphase?

A

During the G-2 phase, the cell continues to grow by increasing its cytoplasm, tubulin proteins are produced for microtubules, and centrioles replicate.

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10
Q

What happens during prophase of mitosis?

A

During prophase, chromatin forms a dense network, creating thicker chromosomes with sister chromatids attached by the centromere. The nuclear envelope dissolves as proteins are phosphorylated to enable proteases to break it down, and centrioles form microtubules.

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11
Q

What happens during metaphase of mitosis?

A

In metaphase, centrioles separate to opposite poles, and spindle fibers join to the centromeres by proteins called kinetochores, aligning chromosomes along the equator of the cell. Each sister chromatid is attached to a spindle fiber from opposite poles.

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12
Q

What happens during anaphase of mitosis?

A

During anaphase, motor proteins move chromosomes toward opposite poles by pulling them along the microtubules, which shorten.

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13
Q

What happens during telophase of mitosis?

A

In telophase, actin and myosin proteins create a constriction ring at the cleavage furrow to squeeze daughter nuclei apart, and the nuclear envelope reforms around the chromosome groups in each daughter cell. Chromatin becomes diffuse, and spindle fibers break down.

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14
Q

What is cytokinesis in mitosis?

A

Cytokinesis evenly distributes the cytoplasm between the daughter cells, forming two genetically identical diploid cells.

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15
Q

How is the movement from one phase of the cell cycle to another regulated?

A

Movement from one phase to another is regulated by cyclins (regulators), which activate cyclin-dependent kinases. These kinases catalyze the phosphorylation of proteins that activate or inactivate genes by binding to them.

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16
Q

How do growth factors control the cell cycle?

A

Growth factors bind to receptors, activating an enzyme cascade and transcription factors (kinases), which control gene expression of genes which control transcription and initiate the cell cycle.

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17
Q

What are transcription factors?

A

Transcription factors stimulate genes to produce other transcription factors, creating a cascade of events that regulate the cell cycle.

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18
Q

How do tumor suppressor genes like P53 function?

A

Tumor suppressor genes like P53 inhibit cell division when mistakes are detected in DNA, stimulate DNA repair enzymes, and can trigger apoptosis of genetically damaged cells.

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19
Q

What is checked at the G1/S checkpoint?

A

The G1/S checkpoint checks for damage to DNA and ensures that all chromosomes have been replicated.

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20
Q

What is checked at the G2/M checkpoint?

A

The G2/M checkpoint performs an additional check for DNA damage.

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21
Q

What is checked at the M checkpoint?

A

The M checkpoint ensures that chromosomes are correctly attached to the spindle fibers.

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22
Q

What happens when p53 genes are mutated?

A

Mutated p53 genes lead to uncontrolled cell division, resulting in cancerous cells that form tumors and pass on mutated oncogenes.

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23
Q

What are oncogenes?

A

Oncogenes are genes that have been mutated, leading to abnormal/uncontrolled cell division. Most mutations in oncogenes result in early cell death or are destroyed by the immune system.

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24
Q

What is the difference between benign and malignant tumors?

A

Benign tumors do not cause cancer and can’t spread throughout the body, while malignant tumors can damage normal functions and spread via blood or lymphatic systems, forming secondary growths (metastasis).

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25
Q

How are tumors treated?

A

Methotrexate inhibits DNA synthesis. Vincristine and Taxol prevent the formation of the mitotic spindle.

26
Q

What is a gene mutation?

A

A gene mutation is a change in the base sequence of DNA, resulting in a change in the polypeptide structure transcribed from that sequence.

27
Q

Do most mutations have an effect on protein production?

A

Most mutations have no effect on protein production because the DNA code is degenerate, meaning multiple combinations of bases can code for the same amino acid.

28
Q

What are the types of gene mutations?

A

Base deletion + insertion: Frameshift mutation that causes issues further in the DNA sequence.
Base substitution: Point mutation that changes one codon. Types include: Silent mutation: No change in amino acid due to the degenerate code. Missense mutation: Alters a single amino acid (e.g., sickle cell anemia). Nonsense mutation: Prematurely codes for a stop codon (e.g., cystic fibrosis).
Inversion: DNA is cut and rotated 180 degrees, which may prevent gene expression or decrease it if the gene is expressed elsewhere.
Duplication of gene: The original gene is still present, but a new gene could mutate over time.
Translocation: A gene is attached to a different gene, potentially making both non-functional (e.g., a proto-oncogene attaching to a gene controlling cell division, causing increased tumor production).
Non Disjunction: failure of paired chromosomes to move opposite poles of the cell. Can manifest as polysomy or monosomy

29
Q

What are mutagenic agents?

A

Mutagenic agents include UV light, ionizing radiation (which can break DNA and cause changes in repair process), toxins like peroxides, deaminating chemicals (may change one base for another), and methylation(can be an epigenetic mechanism) all of which can increase mutation rates.

30
Q

What are beneficial mutations?

A

An example of a beneficial mutation is a decrease in melanin production in areas with low sunlight intensity.

31
Q

What are harmful mutations?

A

A harmful mutation is cystic fibrosis, which is caused by a mutation in the CFTR gene that leads to thickened mucus and lung and pancreatic disease.

32
Q

What are neutral mutations?

A

Neutral mutations have no effect on the polypeptide or the resulting polypeptide does not have any advantages or disadvantages.

33
Q

What is independent assortment?

A

Independent assortment is the random sorting of alleles into gametes, where the allele for one gene does not affect the alleles for other genes. This occurs during anaphase after chromosomes line up at the metaphase plate.

34
Q

What is crossing over in meiosis? Why does it occur? How is it regulated?

A

Crossing over occurs when chromatids break during meiosis, becomes reattached on homologous chromosome,and exchange alleles. This occurs due to chromosomes becoming entangled and Turing stress on the DNA causing it to break and rejoin. This is regulated by enzymes and more likely to occur further from the centromere, contributing to genetic variation.

35
Q

How does random fusion of gametes contribute to variation? How can the number of different chromosome combinations be determined for meiosis?

A

The random fusion of gametes to form a zygote creates genetic variation. The number of different combinations is 2^number of chromosomes present in a haploid cell for that species.

36
Q

What happens during prophase I of meiosis?

A

During prophase I, chromosomes condense and become joined at the centromere to form sister chromatids. Homologous chromosomes pair up and line up ext to each other and crossing over occurs at the chiasmata.

37
Q

How is meiosis I similar to mitosis?

A

Meiosis I shares stages (metaphase I, anaphase I, telophase I, and cytokinesis) with mitosis but involves bivalents and homologous chromosomes instead of individual chromosomes.

38
Q

Is there interphase between meiosis I and meiosis II?

A

No, there is no interphase between meiosis I and meiosis II.

39
Q

How is meiosis II similar to mitosis?

A

Meiosis II is identical to mitosis, involving the separation of sister chromatids to form haploid cells.

40
Q

What happens during cytokinesis in meiosis?

A

Cytokinesis results in the formation of two cells, each with half the chromosome number of the original cell but with the same number of centromeres.

41
Q

What is nondisjunction?

A

Nondisjunction is the failure of chromosomes to separate during meiosis, potentially leading to polysomy (extra chromosomes) or monosomy (missing chromosomes).

42
Q

What is translocation in chromosomal mutations?

A

Translocation is when a section of a chromosome breaks off and attaches to a different chromosome, which can result in non-functional genes.

43
Q

What hormones does the hypothalamus secrete to regulate ovulation?

A

The hypothalamus secretes hormones that stimulate gonadotropes in the pituitary gland to secrete FSH and LH.

44
Q

What happens on days 1-14 of the ovulatory cycle?

A

Oogonium stem cells develop into a primordial follicle, which then matures into a primary follicle by the stimulation of localised enzymes to form a primary follicle which is frozen in Prophase I
FSH stimulates the primary follicle to be converted into a primary pocht with a zona pellucida (glycoprotein) BEGINS TO PRODUCE OESTROGEN
LH stimulated conversion of cholesterol into androgens which FSH converts into Oestrogen and produces follicular fluid.
Graffian follicle (secondary oocyte) formed overtime by action of FSH and LH but is frozen in Metaphase II

45
Q

What is the Graffian follicle?

A

The Graffian follicle is formed by the action of FSH and LH, and the secondary oocyte is frozen in metaphase II.

46
Q

What happens on day 7 of the menstrual cycle?

A

Oestrogen levels in blood rise and stimulate a negative feedback mechanism to inhibit the production of FSH and LH by the pituitary gland causing oestrogen levels to decrease.

47
Q

What happens on day 14 of the ovulatory cycle?

A

Oestrogen levels begin rising again, stimulating the pituitary to produce large amounts of LH, while inhibin from the Graffian follicle inhibits FSH production. LH activates protease enzymes to break down tissues in GF which releases secondary oocyte

48
Q

What occurs during ovulation?

A

Ovulation is the release of the secondary oocyte from the Graffian follicle, triggered by LH and the action of protease enzymes. Fallopian tube sweep the oozy by producing currents due to cilia

49
Q

What is the luteal phase of ovulation?

A

The luteal phase occurs between days 15-28, where LH stimulates the differentiation of cells in the GF that produces hormones to form of the corpus luteum, which secretes progesterone.

50
Q

What happens during the menstrual cycle’s secretory phase (days 15-28)?

A

Progesterone thickens the endometrium, lengthens the arteries, and produces a nutrient-rich broth for embryo implantation and if the embryo is implanted a thick mucus is produced

51
Q

What does seminal fluid contain?

A

Seminal fluid contains fructose (energy source) and prostaglandins (which cause smooth muscle contractions in the uterus) and sperm cells

52
Q

How does the pH of the female reproductive tract affect sperm?

A

The alkaline pH of the female reproductive tract helps sperm function faster.

53
Q

What is capacitation?

A

Capacitation is the process by which oestrogen removes glycoproteins and cholesterol from the sperm head to leave only modified glycoproteins, causing hypermotility of the sperm.

54
Q

What triggers the acrosomal reaction?

A

The acrosomal reaction is triggered by calcium ions when sperm binds to the zona pellucida receptors, releasing hydrolytic enzymes to penetrate the zona pellucida.

55
Q

How does the ovum prevent polyspermy?

A

When the first sperm binds, sodium ions flow into channels in the ovum, creating a positive charge that blocks other sperm from binding.

56
Q

What happens after sperm and ovum membranes fuse?

A

The sperm’s genetic material enters the egg, triggering calcium ions to activate the cortical reaction by stimulating lysosomes to release hydrolytic enzymes , degrade the zona pellucida and hardens the cell membrane and complete meiosis II.

57
Q

What happens when the sperm and egg nuclei fuse?

A

The nuclei fuse to form a zygote.

58
Q

What occurs in days 1-5 of menstruation?

A

Shedding of endometrium and blood lining along with arteries in the inner layer

59
Q

What occurs in days 6-14 of the menstrual cycle?

A

Proliferation stage where endometrium is regenerated and coiled arteries are formed and uterine glands are made to produce a thin mucus and conduct capacitation of sperm caused by oestrogen

60
Q

What effects does progesterone have on blood vessels?

A

It can cause vasoconstriction and vasodilation