CELL STRUCTURES AND THEIR FUNCTIONS

I. THE CELL
The cell is the basic living unit of all organisms. The simplest organisms consist of single
cells, whereas humans are composed of multiple cells. An average-sized cell is one-fifth the
size of the smallest dot you can make on a sheet of paper with a sharp pencil! But despite
their extremely small size, cells are complex living structures. Cells have many
characteristics in common; however, most cells are also specialized to perform
specific functions. The human body is made up of many populations of specialized cells. The
coordinated functions of these populations are critical to the survival of humans and all other
complex organisms. This chapter considers the structures of cells and how cells perform the
activities necessary for maintaining homeostasis.

Each cell is a highly organized unit. Within cells, specialized structures called organelles
(organelles; little organs) perform specific functions (figure 3.1 and table 3.1). The nucleus is
in organelle containing the cell's genetic material. The living material surrounding the nucleus
is called cytoplasm, and it contains many types of organelles. The cytoplasm is enclosed by
the cell membrane or plasma membrane.

II. FUNCTIONS OF THE CELL

Cells are the smallest units that have all the characteristics of life. as described in
chapter 1. The cells of the human body are very diverse in structure and function, but
most share common functions. The following are four important functions performed
by our body cells:

1. Cell metabolism and energy use. The chemical reactions that occur within cells are
collectively called cell metabolism. Energy released during metabolism is used for cell
 activities, such as the synthesis of new molecules, muscle contraction, and heat production,
which helps maintain body temperature.

2. Synthesis of molecules. Cells synthesize various types of molecules, including proteins,

nucleic acids, and lipids. The different cells of the body do not all produce the same
molecules. Therefore, the structural and functional characteristics of cells are determined by
the types of molecules they produce.

3. Communication. Cells produce and receive chemical and electrical signals that allow
them to communicate with one another. For example, nerve cells communicate with one
another and with muscle cells, causing muscle cells to contract.

4. Reproduction and inheritance. Each cell contains a copy of the genetic information of
the individual. Specialized cells (sperm cells and oocytes) transmit that genetic information to
the next generation.

III. CELL MEMBRANE

The cell membrane, or plasma (plazmi) membrane, is the outermost component of a cell. The
cell membrane encloses the cytoplasm and forms the boundary between material inside the
cell and material outside it. Substances outside the cell are called extracellular sub- stances,
and those inside the cell are called intracellular substanc- es. Besides enclosing the cell, the
cell membrane supports the cell contents, acts as a selective barrier that determines what
moves into and out of the cell, and plays a role in communication between cells. The cell
membrane is primarily made up of two major types of molecules: phospholipids and proteins.
In addition, the membrane contains other molecules, such as cholesterol and carbohydrates.

Studies of the arrangement of molecules in the cell membrane have given rise to a model of
its structure called the fluid-mosaic model (figure 3.2). The phospholipids form a double
layer of molecules. The polar, phosphate-containing ends of the phospho- lipids are
hydrophilic (water-loving) and therefore face the extracellular and intracellular fluids of the
cell. The nonpolar, fatty acid ends of the phospholipids are hydrophobic (water-fearing) and
therefore face away from the fluid on either side of the membrane. toward the center of the
double layer of phospholipids. The double layer of phospholipids forms a lipid barrier
between the inside and outside of the cell.

The double layer of phospholipids has a fluid quality, meaning that the phospholipids are not
completely stationary but are able to move. Cholesterol within the phospholipid membrane
gives it added strength and stability by limiting the amount of movement of phospholipids.
Protein molecules "float" among the phospholipid molecules and, in some cases, extend from
the inner to the outer surface of the cell membrane. Carbohydrates may be bound to some
protein molecules, modifying their functions. The membrane proteins function as membrane
channels, carrier molecules, receptor molecules, enzymes, or structural supports in the
membrane. Membrane channels and carrier molecules are involved with the movement of
substances through the cell membrane. Receptor molecules are part of an intercellular
communication system that enables cell recognition and coordination of the activities of cells.
For example, a nerve cell can release a chemical messenger that moves to a muscle cell and
 temporarily binds to a receptor on the muscle cell membrane. The binding acts as a signal that
triggers a response, such as contraction of the muscle cell.

IV. MOVEMENT THROUGH THE CELL MEMBRANE

Cell membranes are selectively permeable, meaning that they allow some substances, but
not others, to pass into or out of the cells. Intracellular material has a different composition
than extracellular material, and the cell's survival depends on maintaining the difference.
Substances such as
enzymes, glycogen, and
potassium ions (K) are
found at higher
concentrations
intracellularly whereas Na'.
Ca, and Cl are found in
greater concentrations
extracellularly. In addition,
nutrients must enter cells continually. and waste products must exit. Because of the
permeability characteristics of cell membranes and their ability to transport certain
molecules, cells are able to maintain proper intracellular concentrations of molecules.
Rupture of the membrane, of its characteristics, or inhibition of transport processes can
disrupt the normal intracellular concentration of molecule.

Diffusion

A solution is generally composed of two major parts, solutes and the solvent. Solutes are
substances dissolved in a predominant liquid or gas, which is called the solvent. Solutes,
such as ions or molecules, tend to move from an area of higher concentration of a solute to
an area of lower concentration of that same solute in solution. This process is called
diffusion. An example of diffusion is the distribution of smoke throughout a room in which
there are no air currents.

Diffusion results from the natural, constant random motion of all solutes in a solution. More
solute particles occur in an area of higher concentration than in an area of lower
concentration Because particles move randomly, the chances are greater that solute
particles will move from the higher toward the lower concentration than from the lower
toward the higher concentration. At equilibrium, the net movement of solutes stops,
although the random motion continues, and the movement of solutes in any one direction is
balanced by an equal movement of solutes in the opposite direction.
A concentration gradient is the difference in the concentration of a solute in a solvent
between two points divided by the distance between the two points. The concentration
gradient is said to be steeper when the concentration difference is large and/or the distance
is small. When we say that a substance moves down (or with) its concentration gradient, we
mean that the solute is diffus ing from an area of higher concentration toward an area of
lower concentration of that specific solute. When we say that a solute moves up (or against)
its concentration gradient, this means that the substance moves from an area of lower
solute concentration to an area of higher solute concentration. Note that this second type of
movement (movement up a concentration gradient) does not occur by diffusion and
requires energy to occur.

Osmosis

Osmosis (os-mo'sis) is the diffusion of water (a solvent) across a selectively permeable

membrane, such as the cell membrane, from a region of higher water concentration to one
of lower water concentration (figure 3.6; see table 3.2). Even though water is a polar
molecule, it is small enough that it can move across the cell membrane by passing either
between the phospholipid molecules or through water channels. Osmosis is important to
cells because large volume changes caused by water movement can disrupt normal cell
functions. Osmosis occurs when the cell membrane is less.
permeable, selectively permeable, or not permeable to solutes and a concentration gradient
for water exists across the cell membrane. Water diffuses from a solution with a higher
water concentration across the cell membrane into a solution with a lower water con-
centration. The ability to predict the direction of water movement across the cell membrane
depends on knowing which solution on either side of the membrane has the higher water
concentration.

The concentration of a solution, however, is expressed not in terms of water, but in terms of
solute concentration. For example, if sugar solution A is more concentrated than sugar
solution B, then solution A has more sugar (solute) than solution B. As the concentration of a
solution increases, the amount of water (sol- vent) proportionately decreases. Water
diffuses from the less concentrated solution B (less sugar, more water), into the more
concentrated solution A (more sugar, less water). In other words, water diffuses toward
areas of high solute concentration and dilutes those solutes.

Osmotic pressure is the force required to prevent the move- ment of water across a
selectively permeable membrane. Thus, osmotic pressure is a measure of the tendency of
water to move by osmosis across a selectively permeable membrane. It can be measured by
placing a solution into a tube that is closed at one end by a selectively permeable membrane
and immersing the tube in distilled water (see figure 3.6, step 1). Water molecules move by
osmosis through the membrane into the tube, forcing the solution to move up the tube (see
figure 3.6, step 2). As the solution rises, its weight produces hydrostatic pressure (see figure
3.6, step 3), which moves water out of the tube back into the distilled water surrounding the
tube. Net movement of water into the tube stops when the hydrostatic pressure in the tube
causes water to move out of the tube at the same rate at which it diffuses into the tube by
osmosis. The osmotic pressure of the solution in the tube is equal to the hydrostatic
pressure that prevents net
movement of water into the
tube.

The greater the concentration

of a solution, the greater its
osmotic pressure, and the
greater the tendency for water
to move into the solution. This
occurs because water moves
from less concentrated
solutions (less solute, more
water) into more concentrated
solutions (more solute, less
water). The greater the
concentration of a solution,
the greater the tendency for
water to move into the solution, and the greater the osmotic pressure must be to prevent
that movement.

When placed into a solution, a cell may swell, remain unchanged, or shrink, depending on
the concentration gradient between the solution and the cell's cytoplasm. A hypotonic
(hi'pō- ton'ik; hypo, under) solution has a lower concentration of solutes and a higher
concentration of water relative to the cytoplasm of the cell. Thus, the solution has less tone,
or osmotic pressure. than the cell. Water moves by osmosis into the cell, causing it to swell.
If the cell swells enough, it can rupture, a process called lysis (li'sis) (figure 3.7a). When a cell
is immersed in an isotonic (I'so-ton'ik; iso, equal) solution, the concentrations of various sol-
utes and water are the same on both sides of the cell membrane. The cell therefore neither
shrinks nor swells (figure 3.7b). When a cell is immersed in a hypertonic (hi'per-ton'ik; hyper,
above) solution, the solution has a higher concentration of solutes and a lower
concentration of water relative to the cytoplasm of the cell. Water moves by osmosis from
the cell into the hypertonic solution, resulting in cell shrinkage, or crenation (kre-nä'shün)
(figure 3.7c). In general, solutions injected into blood vessels or into tissues must be isotonic
to the body's cells because swelling or shrinking disrupts normal cell function and can lead
to cell death.

Carrier-Mediated Transport Mechanisms

Many nutrient molecules, such as amino acids and glucose, cannot enter the cell by
diffusion. Likewise, many polar molecules pro- duced in cells cannot leave the cell by
diffusion. Carrier molecules, which are proteins within the cell membrane, are involved in
carrier-mediated transport mechanisms, which move large water-soluble molecules or
electrically charged ions across th cell membrane. A molecule to be transported binds to a
specifi carrier molecule on one side of the membrane. The binding o the molecule to the
carrier molecule in the cell membrane cause the three-dimensional shape of the carrier
molecule to chang and the transported molecule is moved to the opposite side of th cell
membrane. The transported molecule is then released by the carrier molecule, which
resumes its original shape and is avail- able to transport another molecule. Carrier-mediated
transport mechanisms exhibit specificity; that is, only specific molecules are transported by
the carriers. The proteins involved in carrier- mediated transport are commonly identified by
the specific sub- stance transported. For example, Na+ channels allow Na to move across the
membrane, whereas glucose carrier molecules move glucose across the membrane. There
are three kinds of carrier- mediated transport: facilitated diffusion, active transport, and
secondary active transport.
 AP1 Chapter 3

Facilitated Diffusion

Facilitated diffusion is a carrier-mediated transport process that moves substances across

the cell membrane from an area of higher concentration to an area of lower concentration
of that substance (figure 3.8; see table 3.2). Because movement is with the concentra- tion
gradient, metabolic energy in the form of ATP is not required.

Active Transport

Active transport is a carrier-mediated process that moves sub- stances across the cell
membrane from regions of lower concen- tration to those of higher concentration against a
concentration gradient (see table 3.2). Consequently, active transport processes accumulate
substances on one side of the cell membrane at con- centrations many times greater than
those on the other side. These dramatic concentration differences are important for normal
cell activity. Active transport requires energy in the form of ATP; if ATP is not available, active
transport stops. One example of active transport is the movement of various amino acids
from the small intestine into the blood. The malfunction of active transport can lead to
serious health conditions. Cystic fibrosis is a genetic dis- order that affects the active
transport of CI into cells, as described in the Clinical Impact essay later in this chapter.

In some cases, the active transport mechanism can exchange one substance for another. For
example, the sodium-potassium pump moves Na* out of cells and K+ into cells (figure 3.9).
The result is a higher concentration of N a^ + outside the cell and a higher concentration of K
^ + inside the cell. The concentration gradients for N a^ + and K ^ + . established by the
 sodium-potassium pump. are essential in maintaining the resting membrane potential (see
chapter 8).

Secondary Active Transport

Na+-K+ pump

Carrier molecule

Nat

Glucose

Nat

Glucose

Secondary active transport

involves the active transport of
one substance, such as N a^ +
across the cell membrane,
establishing a concentration
gradient. The diffusion of that
transported substance down its
concentration gradient provides
the energy to transport a second
substance, such as glucose, across
the cell membrane (figure 3.10). In
cotransport, the diffusing
substance moves in the same
direction as the transported
substance; in countertransport,
the diffusing substance moves in a
direction opposite to that of the
transported substance.

Endocytosis and Exocytosis

Large water-soluble molecules

that cannot be transported by car-
rier molecules, small pieces of
matter, and even whole cells can be
transported across cell membranes in
membrane-bound sacs called vesicles. Because
 of the fluid nature of membranes, vesicles and cell membranes can fuse, allowing the
contents of the vesicles to cross the cell membrane. Endocytosis (en'do-st-to'sis) is the
uptake of material through the cell membrane by the formation of a vesicle (see table 3.2).
The cell membrane invaginates (folds inward) to form a vesicle containing the material to be
taken into the cell. The vesicle then moves into the cytoplasm. Endocytosis usually exhibits
specificity. The cell mem- brane contains specific receptor molecules that bind to specific
substances. When a specific substance binds to the receptor molecule, endocytosis is
triggered, and the substance is transported into the cell. This process is called receptor-
mediated endocytosis (figure 3.11). Cholesterol and growth factors are examples of
molecules that can be taken into a cell by receptor-mediated endocytosis. Endocytosis of
bacterial cells is also receptor-mediated.

The term phagocytosis (fag'o-st-to'sis; cell-eating) is often used for endocytosis when solid
particles are ingested. A part of the cell membrane extends around a particle and fuses so
that the particle is surrounded by the membrane. That part of the membrane then "pinches
off" to form a vesicle containing the particle. The vesicle is now within the cytoplasm of the
cell, and the cell membrane is left intact. White blood cells and some other cell types
phagocytize bacteria, cell debris (fragments of dead cells), and foreign particles.
Phagocytosis is an important means by which white blood cells take up and destroy harmful
sub- stances that have entered the body. Pinocytosis (pin'ō-si-to'sis; cell-drinking) is
distinguished from phagocytosis in that much smaller vesicles are formed, and they contain
liquid rather than solid particles.

In some cells, membrane-bound sacs called secretory vesicles accumulate materials for
release from the cell. The secretory vesicles move to the cell membrane, where the vesi- cle
membrane fuses with the cell membrane, and the material in the vesicle is released from
the cell. This process is called exocytosis (ek'sō-si-to'sis; exo, outside) (figure 3.12; see table
3.2). Examples of exocytosis are the secretion of digestive enzymes by the pancreas and the
secretion of mucus by the salivary glands.

To sum up, endocytosis results in the uptake of materials by cells, and exocytosis allows the
release of materials from cells. Both endocytosis and exocytosis requires energy in the form
of ATP for the formation and movement of vesicles.

V. ORGANELLES
Nucleus

The nucleus (noo'kle-us; a little nut or the stone of a fruit) is a large organelle usually located
near the center of the cell (see figure 3.1). All cells of the body have a nucleus at some point
in their life cycle, although some cells, such as red blood cells, lose their nuclei as they
mature. Other cells, such as skeletal muscle cells, contain more than one nucleus.

The nucleus is bounded by a nuclear envelope, which consists of outer and inner
membranes with a narrow space between them (figure 3.13). At many points on the surface
of the nucleus, the inner and outer membranes come together to form nuclear pores,
through which materials can pass into or out of the nucleus.

The nuclei of human cells contain 23 pairs of chromosomes (kro'mo'-somz), which consist of
DNA and proteins. During most of a cell's life, the chromosomes are loosely coiled and
collectively called chromatin (figure 3.14; see figure 3.13b). When a cell prepares to divide,
the chromosomes become tightly
coiled and are visible when viewed
with a microscope (see "Cell Cycle"
The genes that influence the
structural and functional features of
every individual are portions of DNA
mol- ecules. These sections of DNA
molecules determine the structure
of proteins. By determining the
structure of proteins, genes direct
cell structure and function.

Nucleoli (noo-kle'ō-li; sing. nucleolus, little

nucleus) are diffuse bodies with no surrounding
membrane that are found within the nucleus
(see figure 3.13). There are usually one to several nucleoli within the nucleus. The subunits of ribosomes,
a type of cytoplasmic organelle, are formed within a nucleolus. Proteins produced in the cytoplasm
move through the nuclear pores into the nucleus and to the nucleolus. These proteins are joined to
ribosomal ribonucleic (ri'bo-noo-kle'ik) acid (rRNA), produced within the nucleolus, to form large and
small ribosomal subunits (figure 3.15). The ribosomal subunits then move from the nucleus through the
nuclear pores into the cytoplasm, where one large and one small subunit join to form a ribosome during
protein synthesis.

Ribosomes
Ribosomes (rī'bō-sōmz) are the organelles
where proteins are produced (see "Gene
Expression" in 3.6 Whole Cell Activity).
Ribosomes may be attached to other
organelles, such as the endo- plasmic
reticulum. Ribosomes that are not attached
to any other organelle are called free
ribosomes.

Rough and Smooth Endoplasmic Reticulum

The endoplasmic reticulum (en'do-plas' mik
re-tik'ü-lum; rete, a network) (ER) is a series
of membranes forming sacs and tubules that extends from the outer nuclear membrane into the
cytoplasm (figure 3.16). Rough ER is ER with ribosomes attached to it. A large amount of rough ER in a
cell indicates that it is synthesiz- ing large amounts of protein for export from the cell. On the other
hand, ER without ribosomes is called smooth ER. Smooth ER is a site for lipid synthesis and participates
in detoxification of chemicals within cells. In skeletal muscle cells, the smooth ER stores calcium ions.

42
Golgi Apparatus

The Golgi (gol'je) apparatus, also called the Golgi complex, consists of closely packed stacks
of curved, membrane-bound sacs (figure 3.17). It collects, modifies, packages, and
distributes proteins and lipids manufactured by the ER. For example, pro- teins produced at
the ribosomes enter the Golgi apparatus from the ER. In some cases, the Golgi apparatus
chemically modifies the proteins by attaching carbohydrate or lipid molecules to them. The
proteins then are packaged into membrane sacs that pinch off from the margins of the Golgi
apparatus. The vesicles formed at the Golgi apparatus have several destinations. For
example, some such as lysosomes, remain in the cytoplasm; some move to and are
incorporated into the cell membrane; and some function as secretory vesicles (see
"Secretory Vesicles"). The Golgi apparatus is present in larger numbers and is most highly
developed in cells that secrete protein, such as those of the salivary glands or the pancreas.

Secretory Vesicles

A vesicle (ves'i-kl; a bladder) is a small, membrane-bound sac that transports or stores

materials within cells. Secretory vesicles pinch off from the Golgi apparatus and move to the
cell membrane (figure 3.17). The membrane of a secretory vesicle then fuses with the cell
membrane, and the
contents of the vesicle are
released to the exterior of
the cell. In many cells,
secretory vesicles accumu-
late in the cytoplasm and
are released to the exterior
when the cell receives a
signal. For example, nerve
cells release substances
called neurotransmitters
from secretory vesicles to
communicate with other
cells. Also, secretory
vesicles containing
hormones remain in the
cytoplasm of endocrine
cells until signals stimu-
late their release. For example, insulin remains in the cytoplasm of pancreatic cells until
rising blood glucose levels stimulate its secretio

n.

Lysosomes and Peroxisomes

Lysosomes (Iso-sömz) are membrane-bound vesicles formed from the Golgi apparatus. They
contain a variety of enzymes that function as intracellular digestive systems. Vesicles formed
by endocytosis may fuse with lysosomes (figure 3.18). The enzymes within the lysosomes
break down the materials in the
endocytosis vesicle. For example,
white blood cells phagocytize bacteria.
Then enzymes within lysosomes
destroy the phagocytized bacteria.

Peroxisomes (per-ok'si-sōmz) are small,

membrane-bound vesicles containing
enzymes that break down fatty acids,
amino acids, and hydrogen peroxide
(H, O,). Hydrogen peroxide is a by-
product of fatty acid and the amino acid breakdown and can be toxic to a cell. The enzymes
in peroxisomes break down hydrogen peroxide to water and O. Cells active in detoxification,
such as liver and kidney cells, have many peroxisomes.

Mitochondria

Mitochondria (mr'to-kon'dre-ă: sing. mitochondrion) are

small organelles with inner and outer membranes separated by a space (figure 3.19; see
figure 3.1). The outer membranes have a smooth contour, but the inner membranes have
numerous folds, called cristae (kris'te), which project into the interior of the mitochondria.
The material within the inner membrane is the mitochondrial matrix and contains enzymes
and mitochondrial DNA (mtDNA).

Mitochondria are the major sites of adenosine triphosphate (ATP) production within cells.
Mitochondria carry out aerobic respiration (discussed in greater detail in chapter 17), a
series of chemical reactions that require O, to break down food molecules to produce ATP.
ATP is the main energy source for most chemical reactions within the cell, and cells. with a
large energy, requirement have more mitochondria than cells that require less energy. For
example, cells that carry out extensive active transport described earlier in this chapter,
contain many mitochondria. Muscle cells also require large numbers of ATP for contraction.
When muscles enlarge as a result of exercise, the mitochondria increase in number within
the muscle cells and provide the additional ATP required for muscle contraction.
Cytoskeleton

The cytoskeleton (si-to-skel'e-ton), like the skeleton of the body, acts as the internal
framework of the cell. It consists of protein structures that support the cell, hold organelles
in place, and enable the cell to change shape. These protein structures are microtubules,
microfilaments,
and intermediate
filaments (figure
3.20).

Microtubules are
hollow structures
formed from
protein subunits.
The microtubules
perform a variety
of roles, including
helping to
support the
cytoplasm of cells,
assisting in cell
division, and
forming essential
components of
certain organelles,
such as cilia and
flagella.

Microfilaments
are small fibrils
formed from
protein sub-units
that structurally
support the
cytoplasm,
determining cell
shape. Some
microfilaments
are involved with cell movement. For example, microfilaments in muscle cells enable the
cells to shorten, or contract.

Intermediate filaments are fibrils formed from protein sub- units that are smaller in diameter
than microtubules but larger in diameter than microfilaments. They provide mechanical
support to the cell. A specific type of intermediate filament is keratin, a protein associated
with skin cells

Centrioles

The centrosome (sen'tro-sōm) is a specialized area of cytoplasm close to the nucleus where
microtubule formation occurs. It contains two centrioles (sen'tre-ölz), which are normally
oriented perpendicular to each other. Each centriole is a small, cylindrical organelle
composed of microtubules organized into nine triplets: each triplet consists of three parallel
microtubules joined together (figure 3.21). Additional microtubules, extending from the
centrosome, play an important role in cell division, as we learn later in "Mitosis."

Cilia, Flagella, and Microvilli

Cilia (sil'e-a; sing, cilium, an eyelash) project from the surface of cells (see figure 3.1). They

vary in number from none to thousands per cell and are capable of moving. Cilia are
cylindrical structures that extend from the cell. Cilia are composed of microtubules,
organized in a pattern similar to that of centrioles, which are enclosed by the cell membrane.
Cilia are numerous on-surface cells that line the respiratory tract. Their coordinated
movement transports mucus, in which dust particles are embedded, upward and away from
the lungs. This action helps keep the lungs clear of debris such as
 inhaled dust particles. Flagella (flä-jel'ä; sing. flagellum, a whip) have a structure. similar to
that of cilia but are much longer, and they usually occur only one per cell. Sperm cells each
have one flagellum, which propels the sperm cell. Microvilli (mikro-vil't; mikros, small villus,
shaggy hair) are specialized extensions of the cell membrane that are supported by
microfilaments (see figure 3.1), but they do not actively move as cilia and flagella do.
Microvilli are numerous on cells that have them and they increase the surface area of those
cells. They are abundant on the surface of cells that line the intestine, kidney, and other
areas in which absorption is an important function.

VI. WHOLE-CELL ACTIVITY

A cell's characteristics are ultimately determined by the types of proteins it produces. The
proteins produced are in turn determined by the genetic information in the nucleus. In order
to understand how a cell functions, we must consider the relationship between genes and
proteins. For example, the transport of many food molecules into the cell requires cell
membrane proteins. Amino acids are assembled to synthesize proteins, including the
transport proteins of the cell membrane. Information contained in DNA within the nucleus
determines which amino acids are combined at ribosomes to form proteins. As you learned
in the beginning of the chapter, the human body is composed of trillions of cells, with many
different characteristics. Each human begins life as a single cell. Through cell division and cell
differentiation, the cells that make up the human body are formed. The following sections
illustrate the whole-cell activities that determine the characteristics of a functioning cell and
the growth and maintenance of the human body.

Gene Expression

DNA contains the information thar directs protein synthesis This process is called gene
expression. The proteins produced in a set include those that serve as structural
components mud the cell precinct secreted to the outside of the cell, and enzymes that
regulate chemical reactions in the call, DNA influences the Structural and functional
characteristics of the entire chemise it directs protein synthesis Whether an individual us, or
other inherited at determined ultimately by DNA.

A DNA molecule consists of nucleotides joined together to form two nucleotide strand. The
two strands are connected and resemble a ladder that is twisted around its long axis. A gene
is a sequence of nucleotides that provide a chemical set of instructions for making a specific
protein. You can think of a gene as the "recipe" for making a protein. Each DNA molecule
contains many different genes.

Recall from chapter 2 that proteins consist of amino acids The unique structured and
functional characteristics of different proteins and determined by the kinds, numbers, and
arrangement of their amino acids. The nucleotide sequence of a tone deter mines the amino
acid sequence of a specific protein.

Gene expression involves two steps transcription and translation (figure 3.22). This process
can be illustrated with an analogy. Suppose a chef wants a cake recipe that is anil only in a
cookbook in the library, Because the book cannot be checked out the chef makes a copy, or
transcription, of the recipe. Later in the kitchen, the information contained in the copied
recipe is used to make the cake. The changing of something from one form to another (from
recipe o cake is called translation.

In terms of this analogy, DNA (the cookbook) contains mat genes (recipes) for making
different protein food items) DNA however, is too large a molecule to pass through the
nuclear pores is the ribosomes (kitchen) where the proteins are made just as a book stays in
the library, DNA remains in the nucleus. Therefore, through transcription, the cell makes a
copy of the gene necessary to make a particular protein. The copy of the gene produced
during transcription is called messenger RNA (mRNA). Messenger RNA travels from the
nucleus to the ribosomes in the cytoplasm, where the information in the copy is then used
to construct a protein by means of translation. Of course, the actual ingredients are needed
to turn a recipe into a cake. The ingredients necessary to synthesize a protein are amino
acids. Specialized molecules, called transfer RNAs (tRNAs), carry the amino acids to the
ribosome (figure 3.22).

In summary, gene expression involves transcription (making a copy of a gene) and translation
(converting that copied informa- tion into a protein). Next, we consider the details of
transcription and translation.

Transcription

Transcription is the first step in gene expression, and it takes place in the nucleus of the cell
(figure 3.22, steps 1 and 2). DNA determines the structure of mRNA through transcription.
During transcription, the double strands of a DNA segment separate, and DNA nucleotides of
the gene pair with RNA nucleotides that form the mRNA (figure 3.23, steps 1 and 2). Each
nucleotide of DNA contains one of the following organic bases: thymine, adenine, cytosine,
or guanine; each nucleotide of mRNA contains uracil adenine, cytosine, or guanine. The
number and sequence of nucle- otides in the DNA serve as a template to determine the
number and sequence of nucleotides in the mRNA. DNA nucleotides pair only with specific
RNA nucleotides: DNA's thymine with RNA's adenine, DNA's adenine with RNA's uracil,
DNA's cytosine with RNA's guanine, and DNA's guanine with RNA's cytosine. After the DNA
nucleotides pair up with the RNA nucleotides, an enzyme catalyzes reactions that form
chemical bonds between the RNA nucleotides to form a long mRNA segment (figure 3.23,
step 3). Once the mRNA segment has been transcribed, portions of the mRNA molecule may
be removed.
The information in mRNA is carried in groups of three nucleotides called codons, where each
codon specifies a particular amino acid. For example, the nucleotide sequence uracil,
cytosine, and adenine (UCA) specify the amino acid serine. There are 64 possible mRNA
codons, but only 20 amino acids. As a result, more than 1 codon can specify the same amino
acid. For example, CGA, CGG, CGU, and CGC code for the amino acid arginine; UUU and UUC
code for phenylalanine. Some codons do not specify a particular amino acid but perform
other functions. For example, UAA does not code for an amino acid. It is called a stop codon
because it acts as a signal to end the translation process.

Translation

Translation is the synthesis of proteins based on the information in mRNA. Translation occurs
at ribosomes (see figure 3.22. steps 3-5). The mRNA molecules produced by transcription
pass through the nuclear pores to the ribosomes. Ribosomes consist of small and large
subunits, which combine with mRNA during translation. In addition to the mRNA, the
process of translation requires two other types of RNA: tRNA and ribosomal RNA (rRNA).
There is one type of tRNA for each mRNA codon. In each tRNA, there is a three-nucleotide
sequence called the anticodon that pairs with the codon of the mRNA. An amino acid is
bound to another part of the tRNA. This ensures that the correct amino acid is matched with
the correct codon of the mRNA. For example, the tRNA that pairs with the UUU codon of
mRNA has the anticodon AAA and has the amino acid phenylalanine bound to it.

During translation, a ribosome binds to an mRNA. The ribosome aligns the mRNA with tRNA
molecules so that the anti-codons of tRNA can pair with the appropriate codons on the
mRNA (figure 3.24, steps 1 and 2). An enzyme associated with the ribosome causes the
formation of a peptide bond between the amino acids bound to the tRNAs (figure 3.24, step
3). The ribosome moves down the mRNA one codon at a time, releasing one of the tRNA and
allowing the next tRNA to move into position. As the process continues, a polypeptide chain
is formed. Translation ends when the ribosome reaches the stop codon on the mRNA (figure
3.24, step 4). The polypeptide chain is released and becomes folded to form the three-
dimensional structure of the protein molecule (see figure 2.16). A protein can consist of a
single polypeptide chain or two or more polypeptide chains that are joined after each chain
is produced on a separate ribosome.

Cell Cycle

During growth and development, cell division allows for a dramatic increase in cell number
after fertilization of an oocyte. The same process allows for the replacement and repair of
damaged tissue. The cell cycle includes two major phases: a nondividing phase, called
interphase, and cell division. A cell spends most of its life cycle in interphase performing its
normal functions. During interphase, the DNA (located in chromosomes in the cell's nucleus)
is replicated. The two strands of DNA separate from each other, and each strand serves as a
template for the production of a new strand of DNA (figure 3.25). Nucleotides in the DNA of
each template strand pair with new nucleotides that are subsequently joined by enzymes to
form a new strand of DNA. The sequence of nucleotides in the DNA template determines the
sequence of nucleotides in the new strand of DNA because adenine pairs
with thymine, and cytosine pairs with guanine. Each new strand of DNA combines with its
template strand to form a new DNA molecule. Two identical DNA molecules are therefore
produced (see figure 3.25, step 3).

At the end of the interphase, a cell has two complete sets of genetic material. The DNA is
dispersed throughout the nucleus as thin threads called chromatin (figure 3.26, step 1: see
also figures 3.13b and 3.14).

Cell division is the formation of daughter cells from a single parent cell. The new cells
necessary for growth and tissue repair are formed through mitosis (discussed next), and the
sex cells necessary for reproduction are formed through meiosis.

Each cell of the human body, except for sex cells, contains 46 chromosomes. Sex cells have
half the number of chromosomes as other cells (see section 19.2 Formation of Gametes).
The 46 chromosomes are the diploid (dip'loyd) number of chromosomes and are organized
to form 23 pairs of chromosomes. Of the 23 pairs, 1 pair is the sex chromosomes, which
consist of 2 X chromosomes if the person is a female or an X chromosome and a Y
chromosome if the person is a male. The remaining 22 pairs of chromosomes are called
autosomes (aw'tō-sömz). The sex chromosomes determine the individual's sex, and the
autosomes determine most other characteristics.

Mitosis

Most cells of the body, except those that give rise to sex cells, divide by mitosis (mi-to'sis).
During mitosis, a parent cell divides to form two daughter cells with the same amount and
type of DNA as the parent cell. Because DNA determines the structure and function of cells,
the daughter cells, which have the same DNA as the parent cell, can have the same structure
and perform the same functions as the parent cell.

For convenience, mitosis is divided into four stages: prophase, metaphase, anaphase, and
telophase (figure 3.26, steps 2-5). Although each stage represents certain major events, the
process of mitosis is continuous. Learning each of the stages is helpful, but the most
important concept to understand is how each of the two cells produced by mitosis obtains
the same number and type of chromosomes as the parent cell.

Prophase. During prophase (figure 3.26, step 2), the chromatin condenses to form visible
chromosomes. After interphase, each chromosome is made up of two genetically identical
strands of chromatin, called chromatids (krō'mă-tidz), which are linked at one point by a
specialized region called the centromere (sen'tro- mer; kentron, center + meros, part).
Replication of the genetic material during interphase results in the two identical chromatids
of each chromosome. Also, during prophase, microtubules called spindle fibers extend from
the centrioles. Some of these spindle fibers attach to the centromeres of each chromosome
(see figures 3.1 and 3.21). The centrioles divide and migrate to each pole of the cell. In late
prophase, the nucleolus and nuclear envelope disappear.

Metaphase. In metaphase (figure 3.26, step 3), the chromosomes align near the center of
the cell. The movement of the chromosomes is regulated by the attached spindle fibers.

Anaphase. At the beginning of anaphase (figure 3.26. step 4), the chromatids separate.
When this happens. each chromatid is then called a chromosome. At this point, two identical
sets of 46 chromosomes are present in the cell. Each of the two sets of 46 chromosomes is
moved by the spindle fibers toward the centriole at one of the poles of the cell. At the end of
anaphase, each set of chromosomes has reached an opposite pole of the cell, and the
cytoplasm begins to divide. Telophase. During telophase (tel'o-faz) (figure 3.26, step 5), the
chromosomes in each of the daughter cells become organized to form two separate nuclei,
one in each newly formed daughter cell. The chromosomes begin to unravel and resemble
the genetic material during interphase.

Following telophase, cytoplasm division is completed, and two separate daughter cells are
produced (figure 3.26, step 6).

Differentiation

A sperm cell and an oocyte unite to form a single cell, and a new individual begins. The
single cell formed during fertilization divides by mitosis to form two cells, which divide to
form four cells, and so on (see chapter 20). The trillions of cells that ultimately make up the
body of an adult, as a result, stem from that single cell. Therefore, all the cells in an
individual's body contain the same amount and type of DNA. But even though the genetic
information contained in cells is identical, not all cells look and function alike. Bone cells, for
example, do not look like or function the same as muscle cells, nerve cells, or red blood cells
(figure 3.27).

The process by which cells develop with specialized structures and functions is called
differentiation. During the differentiation of a cell, some portions of DNA are active, but
others are inactive. The active and inactive sections of DNA differ with each cell type. For
example, the portion of DNA responsible for the structure and function of a bone cell is
different from that responsible for the structure and function of a muscle cell.
Differentiation, then, results from the selective activation and inactivation of segments of
DNA. The mechanisms that determine which portions of DNA are active in any one cell type
are not fully understood, but the resulting differentiation produces the many cell types that
function together to make a person. Eventually, as cells differentiate and mature, the rate at
which they divide slows or even stops.

Apoptosis

Apoptosis (ap'op-to'sis), or programmed cell death, is a normal process by which cell

numbers within various tissues are adjusted and controlled. In the developing fetus,
apoptosis removes extra tissue, such as cells between the developing fingers and toes. In
some adult tissues, apoptosis eliminates excess cells to maintain a constant number of cells
within the tissue. Damaged or potentially dangerous cells, virus-infected cells, and potential
cancer cells are also eliminated by apoptosis.

Apoptosis is regulated by specific genes. The proteins coded for by those genes initiate
events within the cell that ultimately lead to the cell's death. As apoptosis begins, the
chromatin within the nucleus condenses and fragments. This is followed by frag- mentation
of the nucleus and finally by death and fragmentation of the cell. Specialized cells called
macrophages phagocytize the cell fragments.