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delivered by injury or invasion. One immunologist called it a "roving bag of cells" that patrols our bodies on missions of resistance and restoration. In order to do its job properly, our immune system must be exquisitely sensitive in detecting the surface features of other cells and substances. It must distinguish the "fingerprints" of intruders from those of family members--our own cells and molecules. That is why scientist Ted Melnechuk once remarked that "The immune system is a sensory organ for molecular touch." But our defense network is called upon to be as aggressive as it must be sensitive. Its task is to indentify and then eliminate foreign agents--be they bacteria, viruses, fungi, toxic chemicals, or cancer cells--with precision and dispatch. Except for the nervous system, the immune system is the most complex biological system we have. It consists of master glands, principally the thymus; various sites that harbor immune cells; and different classes of "soldier" cells, which carry out specialized functions--including cells that prompt, cells that alert, cells that facilitate, cells that activate, cells that surround, cells that kill, even cells that clean up. Many immune cells also synthesize and secrete special molecules that act as messengers, regulators, or helpers in the process of defending against invaders. Antigens: The Signalers. Antigens are the fingerprints of immunity. They are identifying molecules that reside on the surface of cells and, like fingerprints, are unique to the cells that bear them. All of our body cells have antigens that signal "self-self-self"-- a message that they are part of us and therefore not to be attacked. Microorganisms, viruses, or any agent that invades our bodies also have identifying antigens on their surfaces, which signal "foreign-foreign-foreign" to the immune system, readying it for immediate attack. That's why organ transplants are difficult; the antigens on newly-introduced cells sound the "foreign" alarm. To prevent the rejection of transplanted tissues, a patient is given drugs that suppress the immune system. If the immune system overreacts to an outside antigen, the result is an allergy. Hayfever, for example, is a hyperresponse to grass, pollen, or ragweed antigens. When our immune system reacts inappropriately to the antigens on our own cells, the result is an autoimmune disorder. Lupus erythematosus and rheumatoid arthritis are examples of autoimmune diseases, in which our own tissues are atttacked from within by our immune defenses.
If our immune systems fail to react properly to an outside agent--say a virus or bacterium--the result is an infection. Finally, if our immune systems fail to identify and destroy our own cells after they become malignant, the result is cancer-cell development and, possibly, the growth of tumors. How can the immune system react to our own cancer cells if the antigens on our cells are supposed to signal "self" to ward off attack? The answer reveals the special mechanism by which our bodies prevent cancer. Once a cell turns malignant, certain antigens on its surface also change. These altered molecules--known as "cancer-specific" antigens--signal "foreign" to the immune system. Cancer antigens are the giveaway-the slight change in fingerprints that can enable our defenses to detect a dangerous "inside job." Fortunately, our immune cells are not only guards, policemen, and soldiers; they're detectives as well. They have to be, because the outlaw cancer cell often cloaks its identity as a traitor to the community of cells. (These antigens have been found in some cancer types but not all. The search continues, because cancer-specific antigens can be used in vaccines or other immunological approaches to preventing and treting cancer.) Antibodies: The Keys. Antibodies are the body's complement to antigens. Think of each antigen as a unique lock, and the protein molecules called antibodies (or immunoglobulins) as custom-made keys for every variation of lock. Antibodies are marvels of immunity that can fit into the "keyhole" of any one of millions of different antigens. Each one has a unique molecular configuration, and we can produce antibodes that latch perfectly into every conceivable antigen. Antibodies are carried throughout the body by white blood cells called lymphocytes, the prime movers of the immune system. Lymphocytes are divided into two main classes--T-lymphocytes and B-lymphocytes (T-cells and B-cells, for short). It is the B-cells that manufacture, display, and secrete antibodies. Imagine the immune system as a tree with two monumental branches--the cell- mediated arm, led by T-cells, and the humoral arm, led by B-Cells and the antibodies they produce. The T- and B-cell branches themselves have offshoots: sub-populations of cells, cell products, and messengers that enable each branch to carry out its broad goal-- effective destuction of foreign substances. The cell-mediated and humoral branches also communicate with each other for the purposes of a coordinated attack. B-cells circulate throughout the body with antibody molecules on their surfaces. When they pick up the signal of a particular antigen, they multiply and
transform into plasma cells, which are essentially minifactories with one purpose: to churn out the precise antibodies that hook onto the antigens of the interloper. Antibodies not only to neutralize foreign substances or microbes, they signal other immune sentries into battle. An antigen-antibody bond is a call to arms, and a cascade of immune reactions follow the initial "connection." This cascade--the sum total of activity by both branches of the immune system--is called an immune response. Certain B-cells also remember their encounters with foreign agents. As a result, antibodies are produced swiftly when the same invader attacks again. Immunologic memory is the basis for vaccines, which introduce small amounts of antigen to prime our bodies for subsequent attacks. T-Cells: The Prime Players: T-cells are the stars of cellmediated immunity, the branch consisting of subgroups of interacting cells. T-cells are so named because they "grow up" in the thymus, the walnutsized gland located under the breastbone. Although all immune cells are "born" in the bone marrow, different types follow different developmental pathways. T-cells migrate to the thymus. There, with the aid of various thymic hormones, immature T-cells grow, learn to recognize and attack antigens, and develop a range of specialized activities. The thymus is the master gland of cell-mediated immunity, a veritable training school for different classes of T-cells. Mature T-cells are harbored in the spleen and lymph nodes, waiting there for the sound of an alarm signalling an intruder. As with B-cells, the T-cell line also generates memory cells that prime the bdoy for repeat attacks by a familiar invader. The main subcategories of T-cells include: T-helper cells orchestrate the actions of other immune cells. They are essential to the performance of their fellow B-cells of the humoral branch; certain antibody reactions depend on help from the helper T's. Thelpers, which are also referred to as CD4 cells (so named for one of their cell-surface receptors), are the primary targets of HIV, the virus that causes AIDS. HIV's destruction of T-helpers, which are crucial conductors of immunity, is the reason why people with AIDS eventually lose their capacity to fight off infections and cancer cells. Killer T-cells, also known as cytotoxic T-cells, are able to liquidate invading microbes, viruses, or cancer cells. Once alerted by other immune cells, and activated by messenger molecules, the killer T's go into action. They have nimble receptors on their surface that reconfigure their structure to fit snugly into their adversaries' antigens. Once attached, the T-cell injects a load of toxic chemicals into the invader, puncturing
its surface membrane and causing its insides to gush out into the fluid environment. Suppressor T-cells are vital to maintaining properly balanced immune responses. Sometimes called CD8 cells, they are able to suppress or dampen the actions of other immune cells. Without the activity of suppressor Ts, immunity could easily get out of hand, resulting in allergic or autoimmune reactions. But CD8 cells are multi- faceted--they can also destroy virusinfected cells. That's why their strength and numbers are considered crucial to individuals infected by HIV. Big-Eaters and Non-Specific Fighters: A third class of immune cells are the multi-talented scavenger cells. Also called phagocytes, they engulf microbes or other unwanted products in the bloodstream. The main phagocyte is the macrophage, which literally means "big eater," based on its ability to gobble up foreign substances. Macrophages, which begin their cellular lives as monocytes, are the garbagemen of the immune system. They clean up waste products in the aftermath of an immune cell attack. But macrophages are also critically involved in the earliest phases of our immune responses. They kick off the immunologic cascade by processing and presenting antigens to lymphocytes, which then initiate full-fledged cellular and humoral reactions. Macrophages also release messenger molecules, such as interleukin- 1, that stimulate and inform lymphocytes while the immune attack ensues. Another product of macrophages, tumor necrosis factor (TNF), is like the body's own chemotherapy--it has the noteworthy ability to liquidate cancer cells. Immune responses require breathtakingly complex interactions throughout the entire immune network. Thelper cells need antigens presented to them by macrophages, and they depend on numerous signals from other cells and messenger molecules. B-cells depend on T-helpers to do their job, so both branches-cell-mediated and humoral--ultimately depend on macrophages. Unlike T- and B-cells, macrophages are "non-specific": they don't latch onto invaders in a perfectly targetted "lock-and-key" fashion. But they do swallow up and present invaders to specific T-cells, and clean up the messy aftermath. Another group of non-specific immune cells, from neither B- or T-cell lineages, are the natural killer cells, or "NK cells." NK cells have the capacity to recognize viruses and cancer cells without having encountered them before, without having antigens served up to them by other cells, and without a specific lock-in-key receptor. Through mechanisms not fully understood, NK cells execute "quick strikes" against virus-infected and
cancer cells, killing them with stunning efficiency. In animal studies, NK cells have been shown responsible for stopping the spread of cancer cells throughout the body. Immunologists suspect that NKs serve the same life-saving function in humans, as well. A vital mind-body connection has been uncovered with NK cells. A multitude of methdologically sound studies have demonstrated relationships between how we cope with stress and the vitality of our NK cells. These cells represent a bridge between psychological factors and our resistance to viral and malignant diseases. Cell Products and Messenger Molecules: Our immune cells manufacture a vast number of biological products. These are molecules whose functions vary as widely as the scientific names given them: "biological response modifiers," "cytokines," "cell products," "growth factors,""messenger molecules," and just plain "biologicals." Regardless of their titles, these substances carry information and instructions from one group of immune cells to another, changing behavior and coordinating immune responses. These molecules are couriers, communicators, helpers, growth inducers, and suppressors. Among the most well-known immune-cell products are the interferons, which have antiviral and anticancer properties, and the interleukins, many of which fight cancer, as well. There are many sub-types of interferon and interleukin, each of which perform distinct functions--but all are critical links in the immunologic chain reaction. Scores of other products, each with its own name and properties, regulate the activities of our immune cells. As mentioned, one of PNI's most surprising discoveries is that brain chemicals- -the neuropeptides and neurotransmitters--also carry messages to immune cells. (Receptors for these brain chemicals have been found on lymphocytes, macrophages, and natural killer cells.) Moreover, recent research has shown that the immune system itself produces neuropeptide-like molecules, and brain cells appear to make immune chemicals, such as interleukin-1. We are just beginning to understand the true reciprocity of the brain-immune dialogue. Brain and body make and receive the same kinds of chemicals in order to communicate effectively. They "speak" the same language--the language of messenger molecules. The Nature of Viruses Viruses are intracellular parasites. They require a living host cell in order to replicate and to infect new hosts. Viruses have been enormously successful in
parasitizing most known forms of living organisms in both the animal and plant world. Components of Viruses Nucleic acid core. At the core of viruses is genetic material which encodes the transcription of all viral components, mostly proteins (such as enzymes). This genetic material is either RNA or DNA, never both. The nucleic acid may be single or double stranded. Viral nucleic acid has been described as the software program for making copies of the virus. The nucleic acid coat or capsid. Surrounding the core is a protective coating made of protein, called the capsid. The capsid is rigid and determines the shape of the virus. It is made of repeating protein units called capsomeres. The architecture of capsomere assembly is quite fascinating. A very common crystal-like configuration is the 20-sided isocahedral construction, with each capsomere forming an equilateral triangle. Another main pattern is helical or rod shape. The nucleic material and its capsid curls unto itself like a snake, forming a spherical structure. A few viruses have capsids that are neither icosahedral nor helical; these configurations are termed complex, and may be spiral, brick shaped, or may show other non-standard appearances. The capsid and its nucleic acid core together form the nucleocapsid. The nucleocapsid is sometimes surrounded a membrane called an envelope. Enveloped viruses are usually spherical because the envelope, unlike the capsid, is loose-fitting. Envelopes are lipid bilayers that contain proteins. Some proteins incorporate carbohydrates and are thus called glycoproteins. Glycoproteins usually protrude out of the envelope as spikes called peplomers. The function of peplomers is to form points of attachments to host cell receptors for entry into cells. The Viral Life Cycle Viruses have complex life cycles which demonstrate their extraordinary symbiosis with their hosts. They lack the tools for self sufficient growth and thus depend upon more advanced life systems for their existence. Viral replication, in broad strokes, starts with viral attachment to host cells. Enveloped viruses use glycoprotein molecules on surface peplomers for binding to the cell membrane. Viral and cell membranes fuse and the viral nucleocapsid penetrates
into the cell's cytoplasm. Naked viruses may be engulfed by the cell membrane in a process called endocytosis. Once inside the cell, the capsid is reconfigured to prepare it for replication. In the replication phase, viral nucleic acid has the capacity to direct the host cell to manufacture all components of the mature virion. These are then assembled and mass produced. The virions are then released into the circulation in a process that may or may not involve cell destruction , or lysis. A wave of viral particle carried through the blood stream to infect organs throughout the body is called a viremic episode. Many viruses travel free in the plasma. Others may attach themselves to platelets, lymphocytes or red blood cells. Recent research has shown that the number of virions involved in infection is much more important than previously realized. In both HIV and hepatitis C, several billion new particles may be produced each day. The amount of viral concentration present at any one time is called the viral load. The immune system is placed under constant stress to deactivate these new infective particles, and to regenerate its own decimated cellular components. Any reduction in the viral load offers an advantage to the immune system, and thus enhances the probability for easing clinical symptoms. Commentaries on the Evolution of Viruses Viruses are far from being static entities. As quintessential intracellular parasites they have developed, through millions of years of cohabitation with their hosts, astoundingly sophisticated structures, survival, and propagation mechanisms. They have adapted, modified their biological strategies, and incorporated genetic diversity and mutational capacity to cope with the changing ecology. In the twentieth century, this ecology, namely the human reservoir, has changed dramatically. The eruptive world population and the mobility of the planet's inhabitants are two major factors responsible for the accelerated evolution of viruses into new frontiers of pathogenicity. Cancer is characterized by abnormal and/or uncontrolled cell growth. Triggers of that growth include the familiar environmental villains -- chemicals, radiation and viruses - as well as internal factors such as hormones, immune conditions and inherited mutations. Though their causes are varied, most cancers fall into one of three major categories, typed by the tissue in which they originate:
1) carcinomas, cancers originating in the epithelial tissue; 2) sarcomas, cancers originating in connective tissue and muscle; and 3) gliomas, cancers originating in nerve tissue. Antineoplastic agents (chemotherapies) prevent the development, maturation, and spread of cancerous cells, and are used along with surgery and radiation to treat cancer. Currently marketed products include alkylating agents, anti-tumor antibiotics, antimetabolites, hormonal agonists/antagonists, nitrosoureas and plant alkaloids. Vaccines are normally made from dead or weakened viruses and work by mobilizing the body's immune system to build defenses by showing it what the targeted virus looks like. That approach is used every year, for example, to develop flu shots to combat emerging strains of influenza. Example: the SARS vaccine was made from a small piece of genetic material from the virus called a plasmid. It biochemically locks onto a specific protein on the outer surface of the virus. This alerts the body's immune system to launch a counterattack against the invading virus. How does a faulty gene trigger disease? A sound body depends on the continuous interplay of thousands of proteins, acting together in just the right amounts and in just the right places - and each properly functioning protein is the product of an intact gene. Genes can be altered (mutated) in many ways. The most common gene mistake involves a single changed base in the DNA - a misspelling. Other alterations include the loss or gain of a base. Sometimes long segments of DNA are multiplied or disappear. Some mutations are silent; they affect neither the structure of the encoded protein nor its function. Other mutations result in an altered protein. In some instances, the protein is normal enough to function, but not well; this is the case of the flawed hemoglob in the oxygen-carrying protein in the blood that causes sicklecell anemia. In other instances, the protein can be totally disabled. The outcome of a particular mutation depends not only on how it alters a protein's function but also on how vital that particular protein is to survival. How do gene mistakes occur? Gene mutations can be either inherited from a parent or acquired. A hereditary mutation is a mistake that is
present in the DNA of virtually all body cells. Hereditary mutations are also called germline mutations because the gene change exists in the reproductive cells (germ cells) and can be passed from generation to generation, from parent to newborn. Moreover, the mutation is copied every time body cells divide. Acquired mutations, also known as somatic mutations, are changes in DNA that develop throughout a person's life. In contrast to hereditary mutations, somatic mutations arise in the DNA of individual cells; the genetic errors are passed only to direct descendants of those cells. Mutations are often the result of errors that crop up during cell division, when the cell is making a copy of itself and dividing into two. Acquired mutations can also be the byproducts of environmental stresses such as radiation or toxins. Mutations occur all the time in every cell in the body. Each cell, however, has the remarkable ability to recognize mistakes and fix them before it passes them along to its descendants. But a cell's DNA repair mechanisms can fail, or be overwhelmed, or become less efficient with age. Over time, mistakes can accumulate. How does heredity influence disease? Genes come in pairs, with one copy inherited from each parent. Many genes come in a number of variant forms, known as alleles. A dominant allele prevails over a normal allele. A recessive gene becomes apparent if its counterpart allele on the other chromosome becomes inactivated or lost. For example, in cystic fibrosis (a disease that seriously impairs breathing and digestion), the gene that causes abnormal mucus production and disease is a recessive allele. A person who inherits one copy of the recessive allele does not develop disease because the normal allele predominates. However, such a person is a carrier who has a 50-50 chance of passing the altered recessive allele to each of his or her descendants. When both parents are carriers, the chance is one in four that a child will inherit two of the recessive alleles, one from each parent, and develop disease. (This chance remains one in four for each pregnancy.) Although most recessive mutations are rare, a few, including those for cystic fibrosis and sickle-cell anemia, are fairly common in specific ethnic groups. However, most diseases and traits don't follow simple patterns of inheritance; a variety of factors influence a gene's performance. To begin with, not all mutated alleles invariably lead to disease. Even with a dominant allele such as the BRCA1 breast cancer susceptibility gene, for instance, the risk of disease by age 65 is 80
percent, not 100 percent. This quality - an indication of the probability that a given gene mutation will produce disease - is referred to as penetrance. Not only can different mutations in the same gene produce a wide range of effects in different individuals, as is the case with cystic fibrosis, but also mutations in several different genes can lead to the identical outcome, as is the case with some forms of Alzheimer's disease. Some traits require simultaneous mutations in two or more genes. And a phenomenon known as imprinting can determine which of a pair of genes, the mother's allele or the father's, will be active or silenced. Acquired mutations: gene changes that arise within individual cells and accumulate throughout a person's lifetime; also called somatic mutations. (See Hereditary mutation.) Alleles: variant forms of the same gene. Different alleles produce variations in inherited characteristics such as eye color or blood type. Amino acid: any of a class of 20 molecules that combine to form proteins in living things. Amyotrophic lateral sclerosis: an inherited, fatal degenerative nerve disorder; also known as Lou Gehrig's disease. Autosome: any of the non-sex-determining chromosomes. Human cells have 22 pairs of autosomes. Base pairs: the two complementary, nitrogen-rich molecules held together by weak chemical bonds. Two strands of DNA are held together in the shape of a double helix by the bonds between their base pairs. (See Chemical base.) Carrier: a person who has a recessive mutated gene, together with its normal allele. Carriers do not usually develop disease but can pass the mutated gene on to their children. Carrier testing: testing to identify individuals who carry diseasecausing recessive genes that could be inherited by their children. Carrier testing is designed for healthy people who have no symptoms of disease, but who are known to be at high risk because of family history. Cell: small, watery, membrane-bound compartment filled with chemicals; the basic subunit of any living thing. Chemical base: an essential building block. DNA contains four complementary bases: adenine, which pairs with thymine, and cytosine, which pairs with guanine. In RNA, thymine is replaced by uracil. Chromosomes:
structures found in the nucleus of a cell, which contain the genes. Chromosomes come in pairs, and a normal human cell contains 46 chromosomes, 22 pairs of autosomes and two sex chromosomes. Clone: a group of identical genes, cells, or organisms derived from a single ancestor. Cloning: the process of making genetically identical copies. Contig maps: types of physical DNA maps that consist of overlapping segments of DNA (contigs) that, taken together, completely represent that section of the genome. (See Physical maps.) Crossing over: a phenomenon, also known as recombination, that sometimes occurs during the formation of sperm and egg cells (meiosis); a pair of chromosomes (one from the mother and the other from the father) break and trade segments with one another. Cystic fibrosis: an inherited disease in which a thick mucus clogs the lungs and blocks the ducts of the pancreas. Cytoplasm: the cellular substance outside the nucleus in which the cell's organelles are suspended. DNA: the substance of heredity; a large molecule that carries the genetic information that cells need to replicate and to produce proteins. DNA repair genes: certain genes that are part of a DNA repair pathway; when altered, they permit mutations to pile up throughout the DNA. Dominant allele: a gene that is expressed, regardless of whether its counterpart allele on the other chromosome is dominant or recessive. Autosomal dominant disorders are produced by a single mutated dominant allele, even though its corresponding allele is normal. (See Recessive allele.) Enzyme: a protein that facilitates a specific chemical reaction. Familial adenomatous polyposis: an inherited condition in which hundreds of potentially cancerous polyps develop in the colon and rectum. Familial cancer: cancer, or a predisposition toward cancer, that runs in families. Functional gene tests: biochemical assays for a specific protein, which indicates that a specific gene is not merely present but active. Gene: a unit of inheritance; a working subunit of DNA. Each of the body's 50,000 to 100,000 genes contains the code for a specific product, typically, a protein such as an enzyme.
Gene deletion: the total loss or absence of a gene. Gene expression: the process by which a gene's coded information is translated into the structures present and operating in the cell (either proteins or RNAs). Gene markers: landmarks for a target gene, either detectable traits that are inherited along with the gene, or distinctive segments of DNA. Gene mapping: determining the relative positions of genes on a chromosome and the distance between them. Genetic linkage maps: DNA maps that assign relative chromosomal locations to genetic landmarksÑeither genes for known traits or distinctive sequences of DNA - on the basis of how frequently they are inherited together. (See Physical maps.) Genome: all the genetic material in the chromosomes of a particular organism. Genome maps: charts that indicate the ordered arrangement of the genes or other DNA markers within the chromosomes. Genotype: the actual genes carried by an individual (as distinct from phenotypeÑthat is, the physical characteristics into which genes are translated). Germ cells: the reproductive cells of the body, either egg or sperm cells. Germline mutation: (See Hereditary mutation.) Hereditary mutation: a gene change in the body's reproductive cells (egg or sperm) that becomes incorporated in the DNA of every cell in the body; also called germline mutation. (See Acquired mutations.) Human genome: the full collection of genes needed to produce a human being. genome. Huntington's disease: an adult-onset disease characterized by progressive mental and physical deterioration; it is caused by an inherited dominant gene mutation. Imprinting: a biochemical phenomenon that determines, for certain genes, which one of the pair of alleles, the mother's or the father's, will be active in that individual. Inborn errors of metabolism: inherited diseases resulting from alterations in genes that code for enzymes. Leukemia:
cancer that begins in developing blood cells in the bone marrow. Li-Fraumeni syndrome: a family predisposition to multiple cancers, caused by a mutation in the p53 tumor-suppressor gene. Linkage analysis: a gene-hunting technique that traces patterns of heredity in large, high-risk families, in an attempt to locate a disease-causing gene mutation by identifying traits that are co-inherited with it. Molecule: a group of atoms arranged to interact in a particular way; one molecule of any substance is the smallest physical unit of that particular substance. Mutation: a change in the number, arrangement, or molecular sequence of a gene. Nucleotide: A subunit of DNA or RNA, consisting of one chemical base plus a phosphate molecule and a sugar molecule. Nucleus: the cell structure that houses the chromosomes. Oncogenes: genes that normally play a role in the growth of cells but, when overexpressed or mutated, can foster the growth of cancer. p53: (See Tumor-suppressor genes.) Penetrance: a term indicating the likelihood that a given gene will actually result in disease. Phenylketonuria (PKU): an inborn error of metabolism caused by the lack of an enzyme, resulting in abnormally high levels of the amino acid phenylalanine; untreated, PKU can lead to severe, progressive mental retardation. Physical maps: DNA maps showing the location of identifiable landmarks, either genes or distinctive short sequences of DNA. The lowest resolution physical map shows the banding pattern on the 24 different chromosomes; the highest resolution map depicts the complete nucleotide sequence of the chromosomes. (See Contig maps.) Precancerous polyps: growths in the colon that often become cancerous.
Predictive gene tests: tests to identify gene abnormalities that may make a person susceptible to certain diseases or disorders. Prenatal diagnosis: examining fetal cells taken from the amniotic fluid, the primitive placenta (chorion), or the umbilical cord for biochemical, chromosomal, or gene alterations. Probe: a specific sequence of single-stranded DNA, typically labeled with a radioactive atom, which is designed to bind to, and thereby single out, a particular segment of DNA. Proofreader genes: (See DNA repair genes.) Prophylactic surgery: surgery to remove tissue that is in danger of becoming cancerous, before cancer has the chance to develop. Surgery to remove the breasts of women at high risk of developing breast cancer is known as prophylactic mastectomy. Protein: a large, complex molecule composed of amino acids. The sequence of the amino acids and thus the function of the protein is determined by the sequence of the base pairs in the gene that encodes it. Proteins are essential to the structure, function, and regulation of the body. Examples are hormones, enzymes, and antibodies. Protein product: the protein molecule assembled under the direction of a gene. Recessive allele: a gene that is expressed only when its counterpart allele on the matching chromosome is also recessive (not dominant). Autosomal recessive disorders develop in persons who receive two copies of the mutant gene, one from each parent who is a carrier. (See Dominant allele.) Recombination: (See Crossing over.) Renal cell cancer: a type of kidney cancer. Reproductive cells: egg and sperm cells. Each mature reproductive cell carries a single set of 23 chromosomes. Restriction enzymes: enzymes that can cut strands of DNA at specific base sequences. Retinoblastoma: an eye cancer caused by the loss of a pair of tumorsuppressor genes; the inherited form typically appears in childhood, since one gene is missing from the time of birth. RNA: a chemical similar to DNA. The several classes of RNA molecules play important roles in protein synthesis and other cell activities. Sarcoma:
a type of cancer that starts in bone or muscle. Screening: looking for evidence of a particular disease such as cancer in persons with no symptoms of disease. Sex chromosomes: the chromosomes that determine the sex of an organism. Human females have two X chromosomes; males have one X and one Y . Sickle-cell anemia: an inherited, potentially lethal disease in which a defect in hemoglobin, the oxygen-carrying pigment in the blood, causes distortion (sickling) and loss of red blood cells, producing damage to organs throughout the body. Somatic cells: all body cells except the reproductive cells. Somatic mutations: (See Acquired mutations.) Tay-Sachs disease: an inherited disease of infancy characterized by profound mental retardation and early death; it is caused by a recessive gene mutation. Transcription: the process of copying information from DNA into new strands of messenger RNA (mRNA). The mRNA then carries this information to the cytoplasm, where it serves as the blueprint for the manufacture of a specific protein. Translation: the process of turning instructions from mRNA, base by base, into chains of amino acids that then fold into proteins. This process takes place in the cytoplasm, on structures called ribosomes. Tumor-suppressor genes: genes that normally restrain cell growth but, when missing or inactivated by mutation, allow cells to grow uncontrolled. Wilms' tumor: a kidney cancer (tumor) that occurs in children, usually before age 5. X chromosome: a sex chromosome; normal females carry two X chromosomes. Y chromosome: a sex chromosome; normal males carry one Y and one X chromosome.
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