Genetics and Klinefelter Syndrome Overview

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Questions and Answers

People with Klinefelter syndrome have a genotype of XXY or XXXY.

True (A)

Men with XYY syndrome typically exhibit significantly lower than average height.

False (B)

Individuals with Klinefelter syndrome typically produce an abnormally high amount of testosterone.

False (B)

Meiosis results in the production of three daughter cells.

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

Triple-X syndrome is more common than Turner syndrome.

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

Crossing over occurs during meiosis I.

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

Males affected by Klinefelter syndrome generally experience normal levels of fertility.

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

Mitosis involves two rounds of division while meiosis involves one round of division.

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

High-pitched voices and breast development in males can be symptoms of Klinefelter syndrome.

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

The nucleolus is found within the cell membrane of the nucleus.

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

Mosaic genotypes in Klinefelter syndrome include variations such as XY/XXY.

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

Individuals with Klinefelter syndrome can lead normal lives in society despite their physical abnormalities.

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

Somatic cell division is essential for growth and repair in multicellular organisms.

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

Telophase II occurs at the end of the first meiotic division.

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

The term 'ultra-structure' refers to the structures that cannot be seen with an electron microscope.

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

Each organelle in a cell plays its role independently, a concept referred to as division of labor.

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

Human embryo fragmentation in vitro has no implications for pregnancy and implantation.

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

Blastocyst-stage transfer of poor-quality cleavage-stage embryos results in lower implantation rates.

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

Prokaryotic cells do not contain a nucleus.

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

Cell division is simpler in eukaryotes than in prokaryotes.

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

The chromosomal constitution of human preimplantation embryos is not related to their in vitro development.

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

Multinucleated blastomeres are common in human embryos and affect developmental capability.

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

All living organisms start their development from multiple cells at once.

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

The maximum size of a cell is reached before it undergoes division.

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

Myosin motors can produce movement of actin filaments through a process that does not require adenosine triphosphate.

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

Microtubules are smaller in diameter than microfilaments, measuring only 10 nm.

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

All types of myosin motors have only a single actin-binding motordomain.

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

Microtubules are formed from a heterodimer composed of alpha and gamma tubulin.

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

The plus end of microtubules is usually positioned near the microtubule organizing center (MTOC).

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

Thirteen protofilaments together create the hollow structure of a microtubule.

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

The myosin II motor is best known for its role in muscle contraction.

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

Microtubules have both a fast-growing end and a slow-growing end that are referred to as plus and beta ends, respectively.

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

Lysosomes are bounded by a double membrane.

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

The diameter of lysosomes ranges from approximately 50 nm to 1 μm.

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

Lysosomes cease their activity during periods of starvation.

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

Mitochondria are primarily responsible for synthesizing chlorophyll.

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

The shape of mitochondria is constant and does not change.

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

Chloroplasts play a vital role in photosynthesis by synthesizing food for plants.

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

Mitochondria vary in number based on the metabolic activities required by a cell.

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

Chloroplasts are colored green due to carotenoids found in their internal structures.

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

The middle lamella is primarily made of a compound called calcium pectate.

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

The secondary cell wall is laid beneath the primary cell wall and contains primarily lignin.

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

Microfibrils in the primary cell wall are composed of a variety of proteins linked together.

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

Lignin is found only in the primary cell wall of plant cells.

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

Plasmodesmata facilitate communication between neighboring cells by penetrating the middle lamella.

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

The plasma membrane is a feature exclusive to eukaryotic cells.

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

Cellulose is the primary structural component of the secondary cell wall.

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

The middle lamella allows for the structural support of plant cells by connecting their walls through pectins.

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

Flashcards

Klinefelter Syndrome

A genetic condition where males inherit an extra X chromosome, resulting in the genotype XXY (or rarely XXXY).

Klinefelter Syndrome Symptoms

Individuals with Klinefelter Syndrome may have a higher pitched voice, underdeveloped male characteristics, and may experience infertility.

XYY Syndrome

A genetic condition where males inherit an extra Y chromosome, resulting in the genotype XYY.

XYY Syndrome Characteristics

Individuals with XYY Syndrome are often taller than average and typically have normal physical and intellectual development.

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Triple-X Syndrome

A genetic condition affecting females where they inherit an extra X chromosome, resulting in the genotype XXX.

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Triple-X Syndrome Characteristics

Individuals with Triple-X Syndrome often have normal physical development and intelligence. They may experience some learning difficulties.

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Turner Syndrome

A genetic condition affecting females where they inherit only one X chromosome, resulting in the genotype XO.

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Turner Syndrome Characteristics

Individuals with Turner Syndrome may have short stature, underdeveloped ovaries, and may experience heart and kidney problems.

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Myosin Motors

Protein filaments with two heads that bind to Actin and use ATP for movement. They are involved in various cellular processes like cytokinesis, cell motility, and vesicle transport.

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Myosin II

A type of Myosin motor responsible for muscle contraction and the formation of "thick filaments".

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Microtubules

Large, hollow cylindrical structures composed of alpha and beta tubulin subunits. These subunits assemble into protofilaments that form the microtubule.

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Plus End of Microtubule

The end of a microtubule where subunit addition occurs at a faster rate.

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Minus End of Microtubule

The end of a microtubule where subunit addition occurs at a slower rate.

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Microtubule Organizing Center (MTOC)

A specialized structure near the nucleus that organizes microtubules in a radial array. It acts as the origin point from which microtubules radiate outward.

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Microtubule Network

The arrangement of microtubules extending from the MTOC, creating a network of tracks for cellular transport.

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Microtubule Polymerization

The process of assembling microtubules from tubulin subunits.

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What is cell division?

Cell division is the process where a single cell divides to create two new cells. It's essential for growth, repair, and reproduction in living organisms.

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Describe prokaryotic cells.

Prokaryotic cells have a simple structure, lacking a nucleus and certain organelles. They contain a circular chromosome.

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Describe eukaryotic cells.

Eukaryotic cells are more complex, containing a nucleus that houses their DNA and other organelles.

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How is cell division different in eukaryotes?

In eukaryotic cells, cell division involves a complex process that ensures accurate replication of chromosomes and distribution of genetic material to daughter cells.

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What happens during embryonic development?

A fertilized egg undergoes multiple rounds of cell division to form an embryo, a process vital for development.

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What is embryo fragmentation?

Fragmentation of an embryo is a condition where some of its cells are damaged or break off, potentially impacting its ability to develop.

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What is polyploidy in embryos?

Polyploidy in preimplantation embryos is a condition where cells have more than the usual two sets of chromosomes, often hampering development.

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What are multinucleated blastomeres?

Multinucleated blastomeres are cells in the early embryo containing multiple nuclei, which can affect their developmental potential.

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Middle Lamella

The outermost layer of the cell wall, composed mainly of pectin (calcium pectate). It acts as a glue holding adjacent cells together, enabling communication through plasmodesmata.

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Primary Cell Wall

The layer of the cell wall directly inside the middle lamella, predominantly composed of cellulose microfibrils. It provides structural support and allows for cell growth.

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Secondary Cell Wall

A layer formed inside the primary cell wall, often containing lignin in addition to cellulose. It provides rigidity and strength, especially important in mature tissues.

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Plasmodesmata

Small channels that penetrate the cell wall, connecting the cytoplasm of adjacent cells. They facilitate the movement of molecules and allow for communication between cells.

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Cellulose

A long, flexible polymer composed of glucose monomers. It forms the basic framework of the plant cell wall and provides strength and support.

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Lignin

A complex organic polymer found in plant cell walls, particularly in the secondary cell wall. It adds rigidity and strength, making the cell wall more resistant to degradation.

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Plasma Membrane

A thin, flexible barrier that surrounds the cytoplasm of a cell. It controls the movement of substances into and out of the cell.

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Pectin

A type of carbohydrate found in the middle lamella, contributing to its adhesive properties. It helps to bind adjacent cells together.

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What are lysosomes?

Lysosomes are known as the "recycling centers" of the cell. They contain powerful enzymes that break down damaged organelles and cellular debris for reuse.

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What are some features of lysosomes?

Lysosomes are bounded by a single membrane, have a diameter between 50nm and 1 μm, and contain acid hydrolases, which are enzymes that break down macromolecules.

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What happens to lysosomes during starvation?

Lysosomes are active even during starvation. They can break down cell organelles to provide nutrients when the cell lacks external food.

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What are mitochondria?

Mitochondria are rod-shaped organelles that are known as the "powerhouses" of the cell. They specialize in converting oxygen and nutrients into ATP, a form of energy essential for cellular functions.

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How many mitochondria does a cell have?

The number of mitochondria in a cell varies depending on the cell's energy demands. Cells with higher energy requirements will have more mitochondria.

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What are chloroplasts?

Chloroplasts are organelles responsible for photosynthesis, the process by which plants create their own food. They contain chlorophyll, a green pigment that captures sunlight for energy production.

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Where are chloroplasts located in a plant cell?

Chloroplasts are located in the outer part of a plant cell to maximize their exposure to sunlight and facilitate the process of photosynthesis.

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What is chlorophyll?

Chlorophyll, a green pigment found in chloroplasts, absorbs sunlight energy for photosynthesis.

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Meiosis

The process where a diploid cell divides twice to produce four haploid daughter cells, each with half the number of chromosomes as the original cell, and unique combinations of genetic material.

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Crossing Over

The exchange of genetic material between homologous chromosomes during prophase I of meiosis, creating new combinations of genes and contributing to genetic diversity.

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Mitosis

The process by which a single cell divides into two identical daughter cells, each with the same number of chromosomes as the original cell. This is important for growth and repair in multicellular organisms.

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Gametogenesis

The process of forming gametes (sperm and egg cells) through meiosis, which reduces the number of chromosomes by half and produces haploid cells.

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Nucleus

The structure within the nucleus that contains genetic information in the form of DNA, responsible for controlling and directing cellular activities.

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Organelles

Specialized structures within a cell that perform specific functions. These structures include the nucleus, mitochondria, ribosomes, and more.

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Ultrastructure

The study of the ultra-fine structures of cells, revealed through electron microscopy.

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Division of Labor within a cell

The division of labor within a cell, where different organelles perform specific tasks, which collectively contribute to the cell's overall function.

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Study Notes

Cell Biology (Master Stage) - First Semester 2023-2024

  • Cytoskeleton and Cell Motility: The cytoskeleton is a network of fibers forming the "infrastructure" of eukaryotic, prokaryotic, and archaean cells. Eukaryotic and prokaryotic cytoskeletons share similarities in structure and function, despite evolutionary distance. Cell motility includes both extracellular and intracellular movements, such as cell movement during embryonic development, wound healing, and muscle contraction, as well as movements of cell components. The cytoskeleton is composed of microfilaments, microtubules, and intermediate filaments.

  • Microfilaments: Microfilaments (actin) are 6 nanometers in diameter and are important for anchoring plasma membrane proteins, cell movement, and cell division. They exist in two states: G-actin (globular actin) and F-actin (filamentous actin). Actin polymerization at the plus end of filaments produces pseudopods, aiding cell migration. They also form stress fibers and the contractile ring during cytokinesis. Actin-associated proteins like profilin regulate actin assembly.

  • Microtubules: These are the largest cytoskeletal filaments (25 nm diameter) made of alpha-tubulin and beta-tubulin heterodimers, forming protofilaments. Microtubules function in cell shape, motility, as tracks for vesicle movement (e.g., of organelles like mitochondria), and during cell division (spindle formation). Microtubule-associated proteins (MAPs) can stabilize or cross-link microtubules. Kinesin and dynein are motor proteins that move along microtubules, carrying cargo.

  • Intermediate Filaments: Intermediate filaments (10 nm diameter) provide structural support to cells, anchoring membrane proteins, and resisting stretching forces. Unlike microfilaments and microtubules, they lack polarity. Keratin, vimentin, desmin, and neurofilament proteins are examples. Mutations in intermediate filament proteins can cause diseases.

  • Cellular Abnormalities in Cell Division: Chromosomal abnormalities, categorized as irregular number of chromosomes and modifications in chromosome structure, can lead to serious genetic mutations and diseases. Errors in chromosome separation during meiosis (nondisjunction) cause these problems. Examples include aneuploidy, trisomy, and monosomy.

  • Sex Chromosome Abnormalities: Abnormalities in sex chromosomes are less frequent than those in autosomes but can lead to conditions like Turner syndrome (XO) and Klinefelter syndrome (XXY). These conditions can affect physical development, fertility, and cognitive function.

  • Other Cell Diseases: Cell diseases like sickle-cell disease involve structural abnormalities in red blood cells, impacting oxygen transport. Alzheimer's disease involves the malfunction of neurons in the brain due to protein disruptions.

  • Cell Division (Mitosis): Mitosis is a type of cell division resulting in two identical daughter cells. Mitosis consists of prophase, metaphase, anaphase, and telophase, followed by cytokinesis which divides the cytoplasm.

  • Cell Division (Meiosis): Meiosis is a type of cell division that produces haploid gametes involved in sexual reproduction. It involves two rounds of division with stages corresponding roughly to meiosis I and meiosis II. Prophase I includes synapsis and crossing over. Meiosis II directly follows meiosis I without an interphase.

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