Добавил:
kiopkiopkiop18@yandex.ru t.me/Prokururor I Вовсе не секретарь, но почту проверяю Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз: Предмет: Файл:
Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_5196_Библиотеки_им_академика_М_И_Перельмана.pdf
Скачиваний:
0
Добавлен:
30.08.2026
Размер:
62 Мб
Скачать
CHAPTER 5 Radiation Monitoring
87
9. Which of the following instruments should be used
to locate a lost radioactive source or detect low-level radioactive contamination?
A. GM survey meter B. Proportional counter C. Ionization chamber–type survey meter (cutie pie) D. Direct ion storage dosimeter
10. Which of the following instruments should be used
in an x-ray installation to measure the fluoroscopic scatter radiation exposure rate?
A. Geiger detector B. Cutie pie C. Proportional counter D. Direct ion storage dosimeter
6

Overview of Cell Biology

O B J E C T I V E S

After completing this chapter, the reader will be able to perform the following:
• Define all key terms.
• State the purpose for acquiring a basic knowledge
of cell structure, composition, and cell function as a foundation for understanding the effects of radiation in biology.
• Identify and describe some important roles of the
major classes of organic and inorganic compounds that exist in the cell.
• List the essential tasks of water in the human body.
C H A P T E R O U T L I N E
The Cell Cell Chemical Composition
Protoplasm Organic Compounds Inorganic Compounds
Cell Structure
Cell Membrane
• Name and describe a landmark event pertaining to the hu­man genome that occurred in 2001, and explain the prog­ress that has been made since then as a result of this project.
• Describe the molecular structure of deoxyribonu­cleic acid, and explain the way it operates in the cell.
• Describe the structural differences between DNA and RNA.
• List the various cellular components, and identify their physical characteristics and functions.
• Distinguish between the two types of cell divisions, mitosis and meiosis, and describe each process.
Cytoplasm Cytoplasmic Organelles Nucleus
Cell Division
Mitosis Meiosis
Summary

K E Y T E R M S

amino acids anaphase carbohydrates cell division cell membrane centrosome chromosomes cytoplasm cytoplasmic organelles deoxyribonucleic acid (DNA) endoplasmic reticulum (ER) genes
88
human genome inorganic compounds interphase lipids meiosis messenger RNA (mRNA) metaphase mitochondria mitosis (M) nucleic acids nucleus organic compounds
osmosis oxidation prophase proteins protein synthesis protoplasm ribonucleic acid (RNA) ribosomal RNA (rRNA) ribosomes saccharides telophase transfer RNA (tRNA)
CHAPTER 6 Overview of Cell Biology
89
Biology is a science that explores living things and life processes. Cells are the basic units of all living mat­ter. The cell is the fundamental element of structure, development, growth, and life processes in the human body. Before imaging professionals can comprehend the effects of ionizing radiation on the human body, they must acquire a basic knowledge of how cells are assem­bled, what they are made of, and how they operate. This chapter is designed to provide an understanding of cellular biology, which ultimately will help the learner appreciate the effects of radiation in the body.

THE CELL

The human body is composed of trillions of cells. These cells exist in a multitude of different forms and perform many diverse functions for the body, such as the following:
• Conduction of nerve impulses
• Contraction of muscles
• Support of various organs
• Transportation of body fluids, such as blood Some cells are freely moving, independent units
(e.g., leukocytes), whereas others remain in one position as part of the tissues of larger organisms throughout their lifetimes (e.g., bone marrow cells). Every mature human cell is highly specialized and has predetermined tasks to perform in support of the body.
Cells:
• Move
• Grow
• React
• Protect themselves
• Repair damage
• Regulate life processes
• Reproduce To ensure efficient cell operation, the body must have
food as a source of raw material for the release of energy, be supplied with oxygen to help break down the food, and have enough water to transport inorganic sub­stances such as calcium and sodium into and out of the cell. In turn, proper cell function enables the body as a whole to maintain homeostasis or equilibrium, which is the ability to operate in a normal manner despite any changes the body may undergo due to out­side influences, such as stress, exercise, injury, or disease.
In summary, cells are engaged in an ongoing process
of obtaining energy and converting it to support their
vital functions. Cells absorb molecular nutrients through the cell membrane and use these nutrients to produce energy and synthesize molecules. If exposure to outside influences, such as ionizing radiation, damages the components involved in molecular synthesis beyond repair, then cells either behave abnormally or die.

CELL CHEMICAL COMPOSITION

Protoplasm

Cells are made of protoplasm, the living contents of a cell surrounded by a plasma membrane. The protoplasm is the chemical building material for all living things. This substance carries on the:
• Complex process of metabolism
• Reception and processing of food and oxygen
• Elimination of waste products Metabolism enables the cell to synthesize proteins
and produce energy. Protoplasm, which includes both small and very large molecules, called macromolecules, consists of:
• Organic compounds (those compounds that contain carbon, hydrogen, and oxygen)
• Inorganic materials (compounds that do not contain carbon) These are either dissolved or suspended in water. The biomolecules that constitute protoplasm are
formed from many elements, among which there are four primary components:
• Carbon
• Hydrogen
• Oxygen
• Nitrogen When combined with phosphorus and sulfur, they
comprise the essential major organic compounds:
• Proteins
• Carbohydrates
• Lipids
• Nucleic acids These compounds are discussed later in this chapter. The most important inorganic substances are:
• Water
• Mineral salts (electrolytes) Water plays a fundamental role in sustaining life and
is the most abundant inorganic compound in the body. The essential functions of water are listed in Box 6.1 and are also discussed later in this chapter. Depending on cell type, water normally accounts for 80% to 85% of
90
PROTOPLASM COMPOSITION
CHAPTER 6 Overview of Cell Biology
BOX 6.1 Life-Sustaining Role of Water in
the Human Body
Acts as the medium in which acids, bases, and salts
are dissolved
Functions as a solvent by dissolving chemical sub-
stances in the cell
Functions as a transport vehicle for material the cell
uses or eliminates
Maintains a constant body core temperature of
98.6°F (37°C)
Provides a cushion for vital organs, such as the brain
and lungs
Regulates concentration of dissolved substances
Lubricates the digestive system
Lubricates skeletal articulations (joints)
1% Nucleic acids
15% Protein
80% to 85%
Water
The Cell
Fig. 6.1 Depending on cell type, water normally accounts for
80% to 85% of protoplasm. (From Radiobiology and radiation protection: Mosby’s radiographic instructional series, St. Louis,
1999, Elsevier.)
1% Carbohydrates
2% Lipids
protoplasm (Fig. 6.1). Mineral salts exist in smaller quantities but are of vital importance in sustaining cell life because they help produce energy and aid in the conduction of nerve impulses. Mineral salts are also instrumental in the prevention of muscle cramping.

Organic Compounds

The four major classes of organic compounds (pro­teins, carbohydrates, lipids [fats], and nucleic acids) all contain carbon as a fundamental constituent (Box 6.2). By combining with:
• Hydrogen
• Nitrogen
• Oxygen carbon makes life possible. Of the four classes of organic compounds, proteins contain the most carbon.
BOX 6.2 Major Classes of Organic
Compounds That Compose the Cell
Proteins Lipids (fats) Carbohydrates Nucleic acid
Proteins. Proteins are the most elementary building
blocks of cells, and they make up approximately 15% of cell content (see Fig 6.1). Proteins are essential for growth, the construction of new body tissue (including acellular tissue such as hair and nails), and the repair of injured or debilitated tissue. Proteins are formed when organic compounds called amino acids combine into long, chainlike molecular complexes. Amino acids are essentially composed of combinations of NH2 (called amine) and COOH (carboxyl group) molecules. Thus nitrogen, hydrogen, carbon, and oxygen are the key constituents of amino acids, of which approximately 500 different types are currently known, although humans require only 22 specific amino acids. To sum­marize, proteins are macromolecules made up of strings of amino acids. When proteins are produced within a cell, a process known as protein synthesis, the order of arrangement of amino acids, determines the precise function of each protein molecule, and the types of proteins that any given cell contains determine the characteristics, or genetics, of that cell. Key components of genetic material, called chromosomes and genes, which organize the amino acids into different orderings to make different types of proteins, are discussed later in this chapter (Fig. 6.2).
Structural and enzymatic proteins. Structural pro-
teins, such as those found in muscle, provide the body with its shape and form and are a source of heat and energy. Enzymatic proteins function as organic cata­lysts, that is, agents that affect the rate or speed of chemical reactions without being altered themselves. As a result of this, enzymatic proteins (commonly called enzymes) moderate or control the cell’s various physio­logic activities. Among other tasks, enzymes can cause an increase in cellular activity that in turn causes bio­chemical reactions to occur more rapidly to meet the needs of the cell in stressful situations. In general, proper cell functioning depends heavily on enzymes.
Repair enzymes. Many of the proteins produced in
the cell, by necessity, are enzymes, initiating vital chem­ical reactions within the cell at the appropriate time.
CHAPTER 6 Overview of Cell Biology
91
Chromosomes Genes
Organize
22 different amino acids
INTO
Certain sequence
aa aa
Structural
proteins
Fig. 6.2 Chromosomes and genes organize the 22 different
amino acids into certain sequences to form the different struc­tural and enzymatic proteins.
aa aa aa
TO FORM
Enzymatic
proteins
Some of the enzymes produced, called repair enzymes, can also mend damaged molecules and are therefore capable of helping the cell recover from a small amount of radiation-induced damage. Both the catalytic (i.e., reaction facilitator) and repair capabilities of enzymes are of vital importance to the survival of the cell.
Repair enzymes work effectively in radiation induced cell injury associated with both diagnostic and thera­peutic radiation energy ranges. However, if the radia­tion damage is excessive because of a large delivered equivalent dose, the cellular harm will be too severe for repair enzymes to have enough positive effect. Thus, when ionizing radiation is used for therapeutic pur­poses to destroy malignant cells, a very significant effort using the latest advances in imaging and treatment planning algorithms is always made to minimize the absorbed dose to healthy surrounding tissue. In radia­tion therapy, this concept is referred to as a therapeutic ratio, wherein the intent is to deliver enough radiation to kill cancerous cells in a tumor (i.e., damage them suf­ficiently so that they are irreparable) while delivering a much less-than-cell-killing equivalent dose to any sur­rounding noncancerous tissue structure. This concept is the foundation on which successful radiation therapy rests.
Hormones and antibodies. In addition to provid-
ing structure and support for the body, proteins may function as hormones and antibodies. Hormones are
chemical secretions manufactured by various endo­crine glands (i.e., organs that secrete substances into the blood stream) and carried by the bloodstream to influence the activities of other parts of the body. For example, hormones produced by the thyroid gland located in the neck control metabolism throughout the body. Hormones also regulate body functions, such as growth and development.
Antibodies are protein molecules created by special­ized cells in the bone marrow called B lymphocytes. Lymphocytes are white blood cells involved in the body’s immune reactions. Antibodies are produced when other lymphocytes in the body, known as T lym- phocytes, detect the presence of molecules that do not belong to the body. These foreign objects (e.g., bacteria, flu viruses) are called antigens. Although the skin of the body is the initial barrier to any outside invasion by pathogens or the like, once it has been penetrated, the body’s primary defense mechanism against infection and disease are the antibodies that chemically attack any foreign invaders.
Carbohydrates. Carbohydrates, also referred to as
saccharides, make up approximately 1% of cell content
(see Fig. 6.1). They include starches and various sugars. Carbohydrates range from simple to complex com­pounds (Box 6.3), even though they are composed of only carbon, hydrogen, and oxygen. Simple sugars such as glucose, fructose, and galactose, have six carbon atoms and six molecules of water (e.g., glucose has the chemical formula C6H12O6). Glucose is the primary energy source for the cell. Because it is a simple sugar, it is called a monosaccharide. Other sugars that have two units of a simple sugar linked together are called disaccharides. Sucrose (cane sugar) and lactose are examples of disaccharides. Both monosaccharides and disaccharides are relatively small molecules. Polysaccha- rides contain several or many molecules of simple sugar.
BOX 6.3 Simple to Complex
Carbohydrates
Monosaccharides
C
6H12O6
Disaccharides
C
Polysaccharides
C
1 C6H12O
6H12O6
1 C6H12O6 1 C6H12O6 1 C6H12O6 1 .........
6H12O6
6
92
CHAPTER 6 Overview of Cell Biology
BOX 6.4 Lipid Formation
Fats or lipids
h
1 molecule of glycerin 1 3 molecules of fatty acid
h
Carbon, oxygen, hydrogen
Plant starches and animal glycogen* are the two most important polysaccharides. Through the process of metabolism, the body breaks these down into simpler sugars for energy.
Carbohydrates, simply described as chains of sugar molecules, function as short-term energy warehouses for the body. Their primary purpose is to provide fuel for cell metabolism. Although carbohydrates are found throughout the human body, they are most abundant in the liver and in muscle tissue. They also are important structural parts of intercellular materials.
Lipids. Lipids can simply be defined as substances such
as fats and fatty acids, oil, or wax that dissolve in alcohol but not in water. Lipids are organic macromolecules, in general containing carbon, hydrogen, and oxygen. In their simplest form, they are made up of a molecule of glycerin† and three molecules of fatty acid** (Box 6.4). Lipids are the structural parts of cell membranes, consti­tuting approximately 2% of cell content (see Fig. 6.1). Therefore, lipids are present in all body tissue. The func­tions they perform for the body are listed in Box 6.5.
Nucleic Acids. Nucleic acids are complex macromole-
cules comprising approximately 1% of the cell (see Fig. 6.1).
*Glycogen, also known as animal glycogen, is a polysaccharide that is the main storage form for glucose in both animals and humans. In humans, it is mainly concentrated in the liver, comprising about 10% of the liver mass.
Glycerin is a clear, odorless, syrupy liquid that is a simple sugar and alcohol compound. It has the chemical formula C3H8O3. **When glucose is broken down in the body during respira­tion, fats are among the generated intermediate products. When a fat combines with an acidic group of atoms (e.g., the carboxyl group, COOH), a fatty acid is formed. An example of a fatty acid is CH3COOH, which is commonly known as acetic
acid
. Fatty acids are constituents of amino acids from which
proteins are built.
BOX 6.5 Functions That Lipids Perform
for the Body
1. Act as reservoirs for the long-term storage of energy
2. Insulate and guard the body against the environment
3. Support and protect organs such as the eyes and
kidneys
4. Provide essential substances necessary for growth
and development
5. Lubricate the joints
6. Assist in the digestive process
The much smaller structures that are the building blocks of nucleic acids are called nucleotides. Each nucleotide is a unit formed from a nitrogen-containing organic base,* a five-carbon sugar molecule (deoxyribose), and a phos- phate molecule.**
Deoxyribonucleic and ribonucleic acids. Cells
contain two types of nucleic acids that are of primary importance to all life:
Deoxyribonucleic acid (DNA)
Ribonucleic acid (RNA) The DNA macromolecule is composed of two long
sugar–phosphate chains, which twist around each other in a double-helix (spiral) configuration and are linked by pairs of nitrogenous organic bases*** (purines and pyrimidines) at the sugar molecules of the chain to
*In general, a base is a substance that, among other character­istics, is slippery to the touch in aqueous solutions, tends to accept protons (i.e., ionized hydrogen atoms) from any proton donor, and reacts with acids to neutralize them, forming salts in the process. If the base contains one or more carbon and hydrogen bonded components, it may be classified as an organic base.
**A phosphate molecule has the chemical description PO4 and therefore consists of one phosphorus atom bonded to four oxygen atoms. It is a negative ion carrying a charge of 23 produced by the dissolution of phosphoric acid H3PO4. Ex­cluding the phosphate molecule, Fig. 6.3 displays the molecu­lar structure of the sugars and the organic bases. The latter are divided into two categories called purines and pyrimidines.
***If an organic base is covalently bonded (i.e., a chemical union formed when electrons are shared between two atoms wherein each atom typically contributes one electron to form a pair of electrons that are shared by both atoms) to one or more nitrogen atoms, this chemical combination is called a nitrogenous base. A nitrogenous base may also contain oxygen atoms that form bonds with carbon.
CHAPTER 6 Overview of Cell Biology
SUGARS
93
form a tightly coiled structure resembling a twisted ladder or spiral staircase. The sugar–phosphate com­pounds are the rails, and the pairs of nitrogenous bases, which consist of complementary chemicals, are the steps, or rungs, of the DNA ladder-like structure (Fig. 6.3). Hydrogen bonds attach the bases to each other and join the two side rails of the DNA ladder.
A~T
A~T
P
C~G
S
P
S
P
S
P
S
P
S
P
S
P
S
P
S
P
S
A~T
T~A
G~C
T~A
C~G
C~G
P
S
T~A
C~G
A~T
G~C
T~A
P
A~T
C~G
P
S
P
S
P
S
P
S
H
T~A
S
P
S
P
S
Nitrogenous organic bases in DNA. The four
nitrogenous organic bases (Fig. 6.4) in DNA macromol- ecules are as follows:
• Adenine (A)
• Cytosine (C)
• Guanine (G)
• Thymine (T)
H
C O
C
C
O
H
D-ribose
H
H
N
C
N C
C
H
H
H
C
C
C N
H
N
C
H
Cytosine (C) Thymine (T)
H
HH O
O
HH
C
C
HH
H
O
PURINES
H
N
C
C
N
N
N
O
H
PYRIMIDINES
H
H
O
O
C
N
C C
N
H
H
H
H
C
H
C O
C
HH
C
O
D-2-deoxyribose
O
N C
N
H
H
H
C
C
H
Guanine (G)Adenine (A)
H H
H
N
C
N
C
C
C
N
H
O
C
HH
C
HH
O
H
H
C
N
H
O
C
N
HH
C
O
Fig. 6.3 Diagram of a DNA macromolecule that illustrates its
twisted ladder-like or spiral staircase–like configuration. Alter­nating sugar and phosphate molecules form the side rails of the ladder, and the nitrogenous organic bases, which consist of the complementary chemicals adenine (A), thymine (T), guanine (G), and cytosine (C), form the rungs, or steps. A hydrogen bond joins the bases together.
Uracil (U)
Fig. 6.4 The components of nucleic acid (H, hydrogen; C,
carbon; N, nitrogen; O, oxygen). Sugars are strung together with phosphate groups, and a base is attached to each sugar. DNA uses d-2-deoxyribose sugar, and RNA uses d-ribose. Both nucleic acids use the same two purines, but thymine (T) in DNA is replaced by uracil (U) in RNA.
94
CHAPTER 6 Overview of Cell Biology
Adenine and guanine are purines, and the com­pounds cytosine and thymine are classified as pyrimi- dines. As can be seen in the figure, a primary difference between the two classes of compounds is the number of carbon–nitrogen rings, with purines always having two rings and pyrimidines only one. A unique characteristic of these organic bases in DNA is that purines link with pyrimidines only in certain specific combinations; more precisely, adenine always bonds only with thymine, and cytosine bonds only with guanine. This property is the reason the two strands of DNA are described as complementary.
DNA: the master chemical substance. DNA, which
is a very large conglomeration of complex molecules, is regarded as the master chemical substance because it contains all of the information a cell needs to function. DNA carries the genetic information necessary for cell replication and regulates all cellular activity needed to direct protein synthesis. DNA establishes an individual’s personal characteristics by regulating the ordering of amino acids in the person’s constituent proteins during the synthesis of these proteins. These arrangements of amino acids are determined by the succession of adenine–thymine and cytosine–guanine base pairs in the DNA macromolecules. Therefore, the sequence of nitrogenous base pairs in the DNA molecule consti­tutes a genetic code. Different sequences of amino acids produce proteins with different functions. Protein char­acteristics determine cell characteristics, and cell char­acteristics ultimately determine the characteristics of the entire individual. All of the information necessary to construct and maintain a living organism is written in the “genetic code book” of DNA—the letters, words, and
sentences are the arrangements and groupings of the nitrogenous organic bases. Why is one person’s DNA dif-
ferent from another’s? Small differences in base pair layouts are responsible for variations in human beings because such slightly altered base pair configurations lead to changes in the proteins produced, how much are produced, and when they are produced.
Structural differences between DNA and RNA. RNA
is a long, single-stranded chain of cells that processes protein. The nucleic acid polymer (a macromolecule containing many repeated subunits) RNA plays an essential part in the translation of genetic information from DNA into protein products. To do this, RNA functions as a messenger between DNA and the ribo­somes, or “protein factories,” where synthesis occurs.
RNA differs structurally from DNA in several ways, some of which are as follows:
• RNA is a single-strand macromolecular structure, whereas DNA is a double-strand macromolecular structure. Both have spiral ladder-like arrangements of their bases.
RNA contains ribose,* whereas DNA contains deoxyribose.*
• RNA has the nitrogenous base uracil (see Fig. 6.4) as a component of its ladder steps, whereas DNA has thymine instead in its ladder steps. Both also contain the bases adenine, guanine, and cytosine as elements of their spiral structure. Unlike with DNA, where thymine forms a bond with adenine, for RNA, uracil links with an adenine base.
• RNA performs many different biologic functions (e.g., acts as an enzyme), but DNA carries the genetic information.
• RNA has a much shorter chain of nucleotides than DNA.
Messenger RNA. Because DNA is found mostly
in the cell nucleus, it cannot directly influence cellular activity such as growth and differentiation, which occur in the cytoplasm (the part of the cell that lies outside the nucleus). Instead, DNA regulates cellular activity indirectly, transmitting its genetic information outside the cell nucleus by reproducing itself in the form of
messenger RNA (mRNA), which is able to leave the
cell nucleus. Once in the cytoplasm, mRNA directs the process of making proteins from amino acids.
DNA serves as a prototype for mRNA, but mRNA
differs from DNA in two important ways:
1. mRNA contains in its backbone the sugar mole­cule, ribose, which differs only in the presence of an extra O–H bond from the sugar molecule, deoxyribose, found in the backbone or side rails of DNA (see Fig. 6.3).
2. In mRNA, the pyrimidine base uracil (U) replaces the thymine that is found in DNA (Fig. 6.5). An mRNA macromolecule, as does any type of RNA,
resembles one half of a DNA macromolecule. RNA
*Ribose is an organic compound classified as a simple sugar. Chemically, ribose is made up of a bonded pentagon-shaped arrangement of 5 carbon atoms, 10 hydrogen atoms, and 5 oxygen atoms. If a ribose molecule should lose one of its oxygen atoms, it is called deoxyribose.
CHAPTER 6 Overview of Cell Biology
Amino acid
aa
U
U
C
S
P
S
P
S
U
S
P
C
A
S
P
S
P
aa
aa
aa
mRNA
aa
aa
aa
Ribosome
aa
aa
95
aa
tRNA
G
A
A
G
G
U
P
S
P
S
P
S
G
C
Fig. 6.5 Messenger RNA (mRNA) resembles one half of a
DNA macromolecule. It appears as a single strand (one side rail) of the DNA ladder-like configuration, with the ladder being severed in half lengthwise. Uracil (U) replaces thymine (T) as one of the nitrogenous organic bases in the mRNA molecule.
G
U
C
A
A
A
S
P
S
G
S
therefore appears as a single strand of the DNA ladder­like configuration, with the ladder being severed in half lengthwise (see Fig. 6.5).
Transfer RNA. Macromolecules of mRNA carry
their genetic codes in their sequences of nitrogenous organic bases (e.g., U, U, C, C, A, U, G, etc.) from the cell
Fig. 6.6 Ribosomes, the cell’s protein factories, travel along
the messenger RNA (mRNA) rails, linking transfer RNA (tRNA) and its corresponding amino acids in the proper sequences to produce the proteins appropriate for the needs of the cell.
nucleus to the ribosomes.* Proteins are manufactured in the ribosomes. Within the ribosome, both mRNA and transfer RNA (tRNA) macromolecules are present. The mRNA delivers its genetic code to tRNA. This encoded tRNA combines with individual amino acids from different areas of the cell and attaches them to the ribosomes, where the amino acids are subse­quently arranged in specific orders to form chainlike protein molecules. Each tRNA molecule is specifically coded for a particular amino acid. Because each of the 22 different amino acids has an associated tRNA, at least 22 different types of tRNAs exist. The ribosomes travel along the mRNA and link tRNA and its corresponding amino acids in the correct order so that the proteins necessary to provide for the needs of the cell are pro­duced (Fig. 6.6).
Ribosomal RNA. Ribosomal RNA (rRNA) is yet
another type of RNA. Ribosomal RNA’s function is to assist in the linking of mRNA to the ribosome to facilitate protein synthesis.
Chromosomes and genes. Chromosomes are tiny,
rod-shaped bodies that under a microscope appear to be long, threadlike structures that become visible only in dividing cells (Fig. 6.7). Chromosomes are composed of:
• Protein
• The genetic material DNA
*Ribosomes: small, spherical organelles (subunits of a cell that perform a specific function) that are the assembly sites (simi­lar to an auto assembly line) where mRNA and tRNA combine amino acids into proteins. A further discussion of ribosomes is provided later in this chapter.
96
A
Fig. 6.7 (A) A chromosome viewed under a microscope appears
rod shaped; (B) when further magnified, a chromosome appears as a tightly wound spiral structure composed of hundreds of genes—(C) a segment of the DNA macromolecule.
CHAPTER 6 Overview of Cell Biology
B
C
A normal human being has 46 different chromo­somes composed of 23 pairs in each somatic (nonrepro­ductive) cell. Individual male and female reproductive cells, also known as germ cells, do not have this pairing. Instead, each of these germ cells has only 23 chromo­somes, which pair up to form a full set of 46 chromo­somes when a sperm cell fertilizes an egg cell. The DNA that makes up every chromosome is divided into many hundreds of segments or subunits called genes. Each gene, because of the ordering of its nitrogenous base pairs, contains information responsible for or related to one or more of the following:
• Directing cytoplasmic activities
• Controlling growth and development of the cell
• Transmitting various aspects of hereditary informa-
tion (e.g., hair color, blood type, general body char-
acteristics, etc.)
Thus, genes are the basic units of heredity. Taken as a whole, they control the formation of proteins in every cell through the intricate process of parentally shared genetic coding.
The human genome. The total amount of genetic
material (DNA) contained within the chromosomes of a human being is called the human genome. The hu­man genome is the blueprint for each person’s body. The process of locating and identifying the genes in the genome is called mapping. A landmark event occurred in 2001, when after years of intense effort two rival groups succeeded in deciphering the human genome.1 Essentially, they uncovered the entire sequence of DNA base pairs (i.e., all of the “rungs” of the DNA ladder structure) on all 46 chromosomes. This major mile­stone in biology and medicine was accomplished by
Celera Genomics, a private company in Rockville, Maryland, and the International Human Genome Sequencing Consortium, a group of academic centers funded mostly by the National Institutes of Health and the Wellcome Trust of London.
2
The groups found that there are 2.9 billion base pairs in the human genome and that these base pairs are arranged into approximately 30,000 genes. It is esti­mated that these genes are capable of producing at least 90,000 different proteins.
According to the National Institutes of Health (2010), the Human Genome Project has already led to the dis­covery of more than 1800 disease genes. In addition, with the knowledge gained from the project, today’s researchers can find a gene suspected of causing an inherited disease in a matter of days, rather than the years it took before the genome sequence was discov­ered. There are now more than 2000 genetic tests for human conditions. These tests enable patients to learn their genetic risks for disease and help health care professionals diagnose disease. As of 2013 at least 350 biotechnology-based products resulting from the Human Genome Project have been placed in clinical trials. Possessing the complete sequence of the human genome is similar to owning all the pages of a manual needed to create the human body. The challenge now is to determine how to read the contents of these pages and understand how all of these many complex parts function together in human health and disease.3 The potential gain from this effort is to be able to eventually both predict a person’s risk of disease and provide that person with specific drugs for targeting and stopping the disease.
Interpreting the map of the human genome is similar to that of a building contractor discovering a list of all the items that are needed to build a house but not a blueprint that demonstrates how often or in what order the steps should be performed. Presymp­tomatic testing, carrier screening, workplace genetic screening, and testing by insurance companies pose significant ethical issues. Second, the burgeoning ability to manipulate human genes raises a number of important ethical questions. Ethical, legal and social issues raised by genomic research include: possible discrimination by employers or health insurers, the need for ethical standards for work with human research subjects or tissues, and consideration of social, cultural and religious perspectives on genetics and