FUNCTIONS OF THE CELL

[Characteristic Functions of the Cell] 1. Cell metabolism and energy use Chemical reactions that occur within the cell Energy released provides energy necessary for cellular activities like the synthesis of molecules and muscle contraction Sometimes, energy is released as heat, which helps maintain body temperature 2. Synthesis of molecules Proteins, nucleic acids, lipids Structural & functional characteristics = type of molecules they produce 3. Communication Respond to chemical and electrical signals Respond by contracting or relaxing 4. Reproduction and inheritance Specialized cells: gametes [Cell Parts and Function] Plasma Membrane Lipid bilayer, phospholipids & cholesterol Controls the entry and exit of substances Enables cells to recognize each other [Cytoplasm: Cytosol] Fluid Part Colloid with suspended proteins Contains enzymes that catalyze decomposition & synthesis reactions Cytoskeleton, Microtubules 25 nm in diameter Support the cytoplasm and from centrioles, spindle fibers, cilia, flagella Responsible for movement of structures in the cell Actin Filaments 8nm in diameter Structural support Support microvilli Responsible for cell movements Intermediate Filaments 10 nm in diameter Structural support Cytoplasmic Inclusions Aggregates of molecules manufactured or ingested by the cell Energy storage: lipids, glycogen Oxygen transport: hemoglobin Skin color: melanin [Organelles; Nucleus] Nuclear Envelope Double membrane enclosing the nucleus Separates the nucleus from the cytoplasm Regulates movement of materials into and out of the nucleus Chromatin Thin strands of DNA, histones and other proteins Condenses to form chromosomes during cell division DNA regulates protein synthesis Nucleolus Consists of ribosomal RNA and proteins Assembly site of large and small ribosomal subunits [Cytoplasmic Organelles] Ribosome Site of protein synthesis Rough Endoplasmic Reticulum Membranous tubule and flattened sacs with attached ribosomes Protein synthesis and transport to Golgi apparatus

Smooth Endoplasmic Reticulum No attached ribosomes Manufacture lipids and carbohydrates Detoxifies harmful chemicals Stores calcium Golgi Apparatus Flattened membrane sacs stacked on each other Modifies, packages and distributes proteins and lipids for secretion or internal use Secretory Vesicle Sac Carries proteins and lipids to cell surface for secretion Lysosome Vesicle Contains digestive enzymes Peroxisome One site of lipid and amino acid degradation Breaks down hydrogen peroxide Proteasomes Tube-like protein complexes Break down proteins Mitochondria Spherical, rod-shaped or threadlike Inner membrane forms projections called cristae Major site of ATP synthesis Centrioles Pair of cylindrical organelles in the centrosome Centers for microtubule formation Determine cell polarity during cell division Form the basal bodies of the cilia and flagella Spindle Fibers Microtubules extending from the centrosome to chromosomes Assist in the separation of chromosomes during cell division Cilia 10 micrometer in length Moves materials over the cells surface Flagellum 55 micrometer in length Responsible for movement of spermatozoa Microvilli Increase surface area of the plasma membrane for absorption and secretion [How We See Cells] Light Microscopes To visualize general features of cells Electron Microscopes To study the fine structure of cells Scanning Electron Microscope (SEM) Allows us to see the features of the cell surface and the surfaces of internal structures Transmission Electron Microscope (TEM) Allows us to see through the cell [Plasma Membrane] Outermost component of the cell Functions as a boundary separating substances inside the cell; intracellular From outside the cell; extracellular Encloses and supports the cell contents Membrane potential: regulation of ion movement by cells results in a charge difference across the plasma membrane Outside: positively charged compared to the inside Glycocalyx: collection of glycolipids, glycolproteins and carbohydrates on the outer surface

Membrane Lipids Phospholipids: assembles to form lipid bilayer, polar charged head, nonpolar charged tail Polar hydrophilic heads are exposed to the water inside and outside of the cell Nonpolar hydrophobic tails face one another Fluid-mosaic model: modern concept; suggests that plasma membrane is neither rigid nor static, highly flexible and can change its shape Cholesterol: 1/3 of the total lipids in the membrane Membrane Proteins Integral or Intrinsic proteins: penetrate deeply into the lipid bilayer Peripheral or extrinsic proteins: attached to either the inner or outer surfaces of the lipid bilayer

Marker Molecules Cell surface molecules that allow cells to identify one another or other molecules Glycoproteins: attached to carbohydrates; integral or peripheral Glycolipids: lipids with attached carbohydrates Attachment Proteins Cadherins: proteins that attach cells to other cells Integrins: proteins that attach cells to extracellular molecules; also function in cellular communication Transport Proteins Channel Proteins One or more integral proteins arranged so that they form a tiny channel through the plasma membrane Hydrophobic region: face outward Nongated ion channels: always open and are responsible for the permeability of the plasma membrane to ions when pm is at rest Gated ion channels: can be opened or closed Chemical signals or Ligands: small molecules that bind to the proteins or glycoproteins -> ligand-gated ion channels Voltage-gated ion channels: open or close when there is a change in charge across the pm Carrier Proteins/Transporters Move ions or molecules from one side of the pm to the other Change shape to move the bound ions or molecules to the other side of the pm Uniport: movement of one specific ion or molecule across the membrane; uniporters Symport: movement of two different ions or molecules in the same direction across the pm; symporters Antiport: movement of two different ions or molecules in opposite directions across the pm; antiporters ATP-Powered Pumps Move specific ions and molecules from one sie to the other Movement of ions are fueled by the breakdown of ATP

Have binding sites to which specific ions or molecules can bind Binding site for ATP Receptor Proteins With an exposed receptor site on the outer cell surface Receptor Linked to Channel Proteins Receptor Linked to G Protein Complexes: located in the inner surface of pm Enzymes Can catalyze chemical reactions on either the inner or the outer surface of the pm [Movement Through The Plasma Membrane] Selectively permeable 1. Directly through the phospholipid membrane: Soluble in lipids: oxygen, carbon dioxide, steroids 2. Membrane channels Size, shape and charge of molecules Sodium: sodium channels only Potassium: potassium channels only 3. Transport proteins Large polar molecules that arent lipidsoluble: glucose and amino acid Mediated process: substances that are moved across the pm by transport proteins 4. Vesicles Small sac surrounded by a membrane Diffusion Movement of solutes from an area of higher solute concentration to an area of lower solute concentration Product of constant random motion Concentration/density gradient: concentration difference between two points, divided by the distance between the two points Greater concentration gradient = greater rate of diffusion Viscosity: measure of how easily a liquid flows Osmosis Diffusion of water across a selectively permeable membrane Aquaporins: water channel proteins Important to cells because large volume changes caused by water movement can disrupt normal cell function Osmotic pressure: force requires to prevent movement of water by osmosis Water moves from less concentrated solutions into more concentrated solutions Greater concentration of a solution = the greater osmotic pressure = greater tendency for water to move into the solution Isosmotic o Solutions wit the same concentration of solute particles have the same osmotic pressure o No net movement occurs Hyperosmotic o One solution has a greater concentration of solute particles,

greater osmotic pressure than another solution Hyposmotic o The more dilute solution with lower osmotic pressure Isotonic o Cell neither shrinks nor swell o Tonicity o Solutions injected to the circulatory system must be isotonic Hypertonic o Water moves out of the cell = cell shrinks o Crenation: RBC Hypotonic o Water moves into the cell = bursts o Lysis: rupture *-osmotic: refers to the concentration of the solutions *-tonic: refers to the tendency of cells to swell/shrink Filtration Results when a partition containing small holes is placed in a tram of moving liquid Works as a minute sieve Depends on a pressure difference on either side of the partition Liquid moves from the side of the partition with the greater pressure to the side with the lower pressure Occurs in the kidneys Mediated Transport Process by which transport proteins mediate or assist in the movement of large, water-soluble molecules or electrically charged molecules or ions across the pm Carrier proteins, ATP-powered pumps and channel proteins Specificity o Each transport protein binds to and transports only single type of molecule or ion o Chemical structure of the binding site determines the specificity of the transport protein Competition o Result of similar molecules binding to the transport protein Saturation o Rate of movement of molecules across the membrane is limited by the number of available transport protein o Concentration of a transported substance increases = more transport proteins have their binding sites occupied o Rate of movement remains constant, even though the concentration of the substance increases further Facilitated Diffusion Carrier-mediated or channel-mediated process that moves substances into or out of cells from a higher to lower concentration

Does not require metabolic energy to transport substances Rate at which molecules or ions are transported is directly proportional to their concentration gradient up to the point of saturation, when all the carrier proteins are occupied Transport of glucose into and out of most cells Active Transport Requires ATP Maximum rate at which active transport proceeds depends on the number of ATPpowered pumps into the pm and the availability of adequate ATP Important because they can move substances against their concentration gradient, from lower to higher concentrations Sodium-potassium pump/ATP-ase Secondary Active Transport Involves active transport of an ion, such as sodium, out of a cell Glucose, lumen into epithelial cells [Endocytosis and Exocytosis] Endocytosis Internalization of substances Refers to the uptake of material through the pm by the formation of a vesicle Vesicle: membrane-bound sac Can exhibit specificity; cells that phagocytize bacteria and necrotic tissue Phagocytosis Cell-eating Applies to endocytosis when solid particles are ingested and phagocytic vesicles are formed Important in the elimination of harmful substances from the body WBC Active process Pinocytosis Cell-drinking Contain molecules dissolved in liquid rather than particles Active process Receptor-Mediated Endocytosis The pm contains specific receptor molecules that recognize certain substances and allow them to be transported into the cell by phago/pinocytosis Increases the rate at which specific substances are taken up by cells Cholesterol and growth factors Exocytosis Content of the vesicle is expelled from the cell Secretion of digestive enzymes by the pancreas and secretion of mucus by the salivary glands [Cytoplasm] Cellular material outside the nucleus but inside the pm

Cytosol Cytoskeleton Supports the cells and holds the nucleus and other organelles in place Responsible for cell movements such as changes in cell shape and the movement of cell organelles Microtubules o Hallow tubules composed of protein units, tubulin o 25 nm in diameter, 5nm thick o Help provide support and structure to the cytoplasm o Involved in cell division and in the transport of intracellular materials o Form centrioles, spindle fibers, cilia and flagella Actin filaments/microfilaments o Small fibrils about nm in diameter o Form bundles, sheets, or networks in the cytoplasm of cells o Have spiderweb-like appearance o Provide mechanical support for microvilli o Define the shape of the cell o Muscle cells contain a large number of actin filaments Intermediate filaments o Protein fibers about 10nm in diameter o Provide mechanical strength to cells Cytoplasmic Inclusions Aggregates of chemicals either produces by the cell or taken in by the cell Lipochromes: pigments that increase in amount with age
[The Nucleus and Cytoplasmic Organelles] Organelles Structures within the cell that are specialized for particular functions Individual workstations Number and type of cytoplasmic organelles = related to the specific structure and function of the cell Nucleus Large, membrane-bound structure Osteoclasts: bone cells Nucleoplasm, nuclear envelope and nuclear pores DNA is usually found here Chromosomes: carries genetic info Histones: important for the structural organization of DNA Chromatin: delicate filaments Chromatids Centromere: single point Kinetochore: protein structure within the centromere, provides a point of attachment for microtubules during cell division Gene: a sequence of nucleotides in a DNA molecule that specifies the structure of a protein or RNA molecule Nucleolus: lacks surrounding membrane; incorporates portions of 10 chromosomes called nucleolar organizer regions (contain DNA from which rRNA is produced)

Ribosomes Site of protein synthesis Endoplasmic Reticulum Broad, flattened, interconnecting sacs and tubules Interior spaces of those sacs&tubules: cisternae Rough ER o Has ribosomes attached to it o Synthesize large amounts of protein that are secreted for use outside the cell Smooth ER o Manufactures lipids such as phospholipids, cholesterol, steroid hormones and carbohydrates o Participates in the detoxification processes o Stores calcium ions that function in muscle contraction (skeletal muscle) Golgi Apparatus Packaging and distribution center Modifies, packages, distributes proteins and lipids manufactures by the ER Most highly developed in cells that secrete large amounts of protein or glycoproteins Secretory Vesicles Accumulate in some cells, but their contents frequently are not released to the exteriors until the cell receives a signal Vesicles that contain the hormone insulin Lysosomes Membrane-bound vesicles that pinch off the Golgi apparatus Contain a variety of hydrolytic enzymes that function as intracellular digestion systems Various enzymes digest nucleic acids, proteins, polysaccharides and lipids Certain WBC contain enzymes to digest phagocytized bacteria Digest organelles that are no longer functional through autophagia Peroxisomes Contain enzymes that break down fatty acids and amino acids Hydrogen peroxide is a by-product of the breakdown Contain catalase, which breaks down hydrogen peroxide to water and oxygen Cells that are active in detoxification such as liver&kidney contains lots of peroxisomes Proteasomes Consist of large protein complexes that break down and recycle proteins within the cell Not surrounded by membranes Mitochondria Provide energy for the cell Major site of ATP production Matric: substance located in the space formed by the inner membrane Centrioles and Spindle Fibers Centrosome: specialized zone of cytoplasm, center of microtubule formation, contains two centrioles Cilia and Flagella Dynein arms: protein connecting adjacent pairs of microtubules Basal body: base of the cilium Cilia are numerous on surface cells that line the respiratory tract and female reproductive tract

Sperm cells are the only human cells that contain flagella Flagella move the entire cell; cilia move small particles Microvilli Cylindrically shaped extensions of the pm Function to increase the cell surface area Found in intestine, kidney and other areas which absorption is an important function Sometimes, are highly modified to function as sensory receptors [Genes and Gene Expression] Heredity Genetic transmission of characteristics or traits from parents to their offspring Genes Functional units of heredity Segment of a DNA molecule Triplets: three consecutive nucleotides Structural genes o Those DNA sequences that determine specific amino acid sequences in proteins, such as enzymes, hormones, collagen Regulatory genes o Segments of DNA involved in controlling which structural genes are expressed in a given tissue Responsible for the characteristics of cells Gene expression o Production of proteins from the information stored in DNA o Transcription: photocopy o Translation: changing of one form to another Transcription Synthesis of mRNA,tRNA and rRNA based on the nucleotide sequence in DNA Occurs when a section of a DNA molecule unwinds and its complementary strands separate (one strand serves as a template) Adenine aligns with thymine; cytosine aligns with a guanine; uracil of RNA aligns with adenine Sequence bases: TCGA, AGCU RNA polymerase o Enzyme that synthesizes the complementary RNA molecule from DNA o Attaches to a DNA sequence called promoter, but must first associate with other proteins called transcription factors o Terminator: when RNA polymerase encounters a DNA nucleotide sequence o Region of a DNA between the promoter and terminator: gene o Pre-RNA: during transcription, the sequence of nucleotides in DNA between the promoter and terminator serve as a template to make an RNA molecule o Exons: protein-coding region of RNA o Introns: code for parts of a protein and sections that do not code for parts of proteins o Posttranscriptional processing: produces the functional mRNA o 7-methyl guanosine cap&poly-A tail o Splicesomes: splice together introns and exons

Alternative splicing: various combinations of exons are incorporate into mRNA

Genetic Code Information contained in mRNA Codons o Sets of three nucleotide o Specifies an amino acid during translation o Some act as signals during translation o AUG: methionine: acts as a start codon, signals the beginning of translation o UAA, UGA, UAG: stop codons Translation Synthesis of a protein at the ribosome in response to the codons of mRNA Requires ribosomes and tRNA Ribosomes: consist of rRNA and proteins; produced in the nucleus by transcription Function of tRNA is to match a specific amino acid to a specific codon of mRNA Anticodon o Consists if three nucleotides and is complementary to a particular codon of mRNA o Can only combine with its matched codon Proproteins: longer when first made than they are in their final, functional state Proenzymes: not converted to active enzymes until they reach a protected region of the body (i.e. small intestine) Posttranslational processing: various modifications to proteins Polyribosome Regulation of Gene Expression Gene expression in a single cell is not normally constant, but it occurs more rapidly at some times than others Triiodothyronine (t3) increases specific types of mRNA transcription [Cell Life Cycle] Changes a cell undergoes from the time it is formed until it divides to produce two new cells Interphase and a cell division stage Interphase Phase between cell division 90% or more is spent here The cell carries out the metabolic activities necessary for life and performs its specialized functions Cells prepare to divide; increase in cell size, centrioles are duplicated G1 (Gap phase): cell carries out routine metabolic acivities S (synthesis phase): DNA is replicated G2: cell prepares for division DNA Replication Process by which two new strands of DNA are made During interphase DNA polymerase: enzyme that adds new nucleotides to the 3rd end of the growing strands Leading strand: formed as a continuous strand Lagging strand: formed in short segments called Okazaki fragments (spliced by DNA ligase) Cell Division Two major events: division of the nucleus (mitosis_ and division of the cytoplasm (cytokinesis)

Mitosis Division of the nucleus into two nuclei Chromatin becomes very densely coiled to form compact chromosomes PMAT Cytokinesis Division of the cytoplasm to produce two new cells Begins in anaphase -> telophase -> interphase Cleavage furrow: first sign [Genetics] Study of heredity Mendelian genetics: study of how certain genetic traits are passed from parent to offspring Genomic medicine: genetic approach to the diagnosis and management of disease Mendelian Genetics Mendel father of genetics Gametes: sex cells Genotype: genes an organism has for a given trait Phenotype: expression of the genes as traits Alleles: alternate form of genes Homozygous: two alleles for the trait is identical Heterozygous: two alleles for the trait are different Modern Concepts of Genetics T.H. Morgan: mutations James Watson and Francis Crick: isolation of DNA as a genetic material Chromosomes Mae up of DNA and associated proteins found in the nuclei of somatic cells (cells of the body except for gametes) and gametes Diploid: normal number of chromosomes in somatic cells (46) Haploid: normal number of chromosomes in a gamete (23) Humans have 22 pairs of autosomal chromosomes and one pair of sec chromosomes (X and Y chromosome) (XX: female) (X of a male is derived from his mother, Y is derived from his father) Karyotype: display of the chromosomes of a somatic cell during metaphase of mitosis Homologous pairs: chromosome pairs Homolog: each member of the pair Genome: consists of all the genes found in the haploid number of chromosomes from one parent Locus: location on a chromosome Multiple Alleles Allelic variants o Can result in either no effect on the phenotype or minor to major phenotypic changes o The greater the effect of an amino acid change on a proteins shape = greater effect on proteins function = greater effect on the phenotype Mutated allele (gene) Polymorphism (many forms) Phenylketonuria (PKU) o Autosomal recessive trait with multiple alleles o Severity depends in part on which two allelic variants are present Gene Dominance Complete dominance o Homozygous dominant and heterozygote had the same phenotype

Codominance o Two alleles at the same locas are expressed so that separate, distinguishable phenotypes occur at a time o ABO blood types Incomplete dominance o The dominant allele does not completely mask the effects of the recessive allele in the heterozygote o Beta thalassemia Disorder on a gene on chromosome 11 Major thalassemia: two abnormal alleles are present Results in severe anemia Polygenic Traits Many genes determine a phenotype Result from the interactions of many genes Sex-Linked Traits Traits affected by the genes on the sex chromosomes X-linked & Y-linked Hemophilia A: X-liked recessive trait Meiosis and the Transmission of Genes Gametes are produced that have one homolog from each of the homologous pairs of chromosome One half number of chromosomes and one half the alleles as the original diploid cells No replication of DNA occurs in the first and second meiotic divisions Punnett square Genetic Disorders Failure of structure, function, or both as a result of abnormalities in a persons genetic makeup (DNA) Mutagens: agents that cause mutations Point mutation: mutation involving a single nucleotide Structural mutations o Mutations that change the sequence or number of nucleotides o Involve deletions, duplications, translocations and inversions Segregation errors Nondisjunction: one of the daughter cells receives both chromosomes, the other receives none Aneuploidy: 47 or 45 chromosomes Genetic Disorders [Dominant Traits] Achondroplasia o Dwarfism characterized by shortening of the upper and lower limbs Huntington chorea o Severe degeneration of the basal nuclei and frontal cerebral cortex; characterized by purposeless movements and mental deterioration; onset is usually between 40 and 50 years of age Hypercholesterolemi o Elevated blood cholesterol levels that contribute to atherosclerosis and cardiovascular disease Marfan syndrome o Abnormal connective tissue, resulting in increased height, elongated digits, and weakness in the aortic wall Neurofibromatosis o Small, pigmented lesions (caf -au-lait

spots) in the skin and disfiguring tumors (noncancerous) caused by the proliferation of Schwann cells along nerves Osteogenesis imperfecta o Abnormal collagen synthesis, resulting in brittle bones that break repeatedly [Recessive Traits] Albinism o Lack of an enzyme necessary to produce the pigment melanin; characterized by lack of skin, hair, and eye coloration Cystic fibrosis o Impaired transport of chloride ions across plasma membranes; resulting in excessive production of thick mucus, which blocks the respiratory and gastrointestinal tract; the most common fatal genetic disorder Phenylketonuria o Lack of the enzyme necessary to convert the amino acid phenylalanine to the amino acid tyrosine; an accumulation of phenylalanine leads to mental retardation Severe combined immune deficiency o Inability to form the white blood cells (B cells, T cells, and phagocytes) necessary for an immune system response Sickle-cell disease o Inability to produce normal hemoglobin; resulting in abnormally shaped red blood cells that clog capillaries or rupture Tay-Sachs disease o Lack of the enzyme necessary to break down certain fatty substances; an accumulation of fatty substances impairs action potential propagation, resulting in deterioration of mental and physical functions and death by 34 years of age Thalassemia o Decreased rate of hemoglobin synthesis; resulting in anemia, enlargement of the spleen, increased cell numbers in red bone marrow, and congestive heart failure [Sex-Linked Traits] Duchenne muscular dystrophy o Deletion or alteration of part of the X chromosome; resulting in progressive weakness and wasting of muscles Hemophilia o Most commonly, failure to produce blood clotting factors, caused by a recessive gene; resulting in prolonged bleeding Red-green color blindness o Most commonly, deficiency in functional green-sensitive cones, caused by a recessive gene; inability to distinguish between red and green colors [Chromosomal Disorders] Down syndrome o Caused by having three chromosomes 21; resulting in mental retardation, short stature, and poor muscle tone Klinefelter syndrome o Caused by two or more X chromosomes in a male (XXY); resulting in small testes, sterility, and development of femalelike breasts

Turner syndrome o Caused by having only one X chromosome; resulting in immature uterus, lack of ovaries, and short stature