repeated sequence of nucleotides, which can be expanded by some gene mutations

Nucleotide sequence repeat expansion

1.4 Genes In Health and Disease

CHARACTERISTICS OF LIFE The world is filled with familiar objects, such as tables, rocks, plants, pets, and automobiles. Which of these objects are living or were once living? What are the criteria for assigning something to the living world or the nonliving world? Biologists have established that living things share seven characteristics of life. These characteristics are organization and the presence of one or more cells, response to a stimulus (plural, stimuli), homeostasis, metabolism, growth and development, reproduction, and change through time. Organization and Cells Organization is the high degree of order within an organism’s internal and external parts and in its interactions with the living world. For example, compare an owl to a rock. The rock has a spe- cific shape, but that shape is usually irregular. Furthermore, differ- ent rocks, even rocks of the same type, are likely to have different shapes and sizes. In contrast, the owl is an amazingly organized individual, as shown in Figure 1-2. Owls of the same species have the same body parts arranged in nearly the same way and interact with the environment in the same way. Copyright © by Holt, Rinehart and Winston. All rights reserved. ORGANISM (Barn Owl) ORGAN (Owl’s Ear) TISSUE (Nervous Tissue Within the Ear) CELL (Nerve Cell) Every living organism has a level of organization. The different levels of organization for a complex multicellular organism, such as an owl, are shown in the figure below. FIGURE 1-2 THE SCIENCE OF LIFE 7 All living organisms, whether made up of one cell or many cells, have some degree of organization. A cell is the smallest unit that can perform all life’s processes. Some organisms, such as bacteria, are made up of one cell and are called unicellular (YOON-uh-SEL-yoo-luhr) organisms. Other organisms, such as humans or trees, are made up of multiple cells and are called multicellular (MUHL-ti-SEL-yoo-luhr) organisms. Complex multicellular organisms have the level of orga- nization shown in Figure 1-2. In the highest level, the organism is made up of organ systems, or groups of specialized parts that carry out a certain function in the organism. For example, an owl’s ner- vous system is made up of a brain, sense organs, nerve cells, and other parts that sense and respond to the owl’s surroundings. Organ systems are made up of organs. Organs are structures that carry out specialized jobs within an organ system. An owl’s ear is an organ that allows the owl to hear. All organs are made up of tissues. Tissues are groups of cells that have similar abilities and that allow the organ to function. For example, nervous tissue in the ear allows the ear to detect sound. Tissues are made up of cells. A cell must be covered by a membrane, contain all genetic information necessary for replication, and be able to carry out all cell functions. Within each cell are organelles. Organelles are tiny structures that carry out functions necessary for the cell to stay alive. Organelles contain biological molecules, the chemical compounds that provide physical structure and that bring about movement, energy use, and other cellular functions. All biological molecules are made up of atoms. Atoms are the simplest particle of an ele- ment that retains all the properties of a certain element. Response to Stimuli Another characteristic of life is that an organism can respond to a stimulus—a physical or chemical change in the internal or external environment. For example, an owl dilates its pupils to keep the level of light entering the eye constant. Organisms must be able to respond and react to changes in their environment to stay alive. ORGANELLE (Mitochondrion) BIOLOGICAL MOLECULE (Phospholipid) ATOM (Oxygen) cell from the Latin, cella meaning “small room,” or “hut” Word Roots and Origins www.scilinks.org Topic: Characteristics of Life Keyword: HM60257 mb06se_bios01.qxd 5/18/07 10:37 AM Page 7 8 CHAPTER 1 Homeostasis All living things, from single cells to entire organisms, have mecha- nisms that allow them to maintain stable internal conditions. Without these mechanisms, organisms can die. For example, a cell’s water content is closely controlled by the taking in or releas- ing of water. A cell that takes in too much water will rupture and die. A cell that doesn’t get enough water will also shrivel and die. Homeostasis (HOH-mee-OH-STAY-sis) is the maintenance of a stable level of internal conditions even though environmental conditions are constantly changing. Organisms have regulatory systems that maintain internal conditions, such as temperature, water content, and uptake of nutrients by the cell. In fact, multi- cellular organisms usually have more than one way of maintain- ing important aspects of their internal environment. For example, an owl’s temperature is maintained at about 40°C (104°F). To keep a constant temperature, an owl’s cells burn fuel to produce body heat. In addition, an owl’s feathers can fluff up in cold weather. In this way, they trap an insulating layer of air next to the bird’s body to maintain its body temperature. Metabolism Living organisms use energy to power all the life processes, such as repair, movement, and growth. This energy use depends on metabolism (muh-TAB-uh-LIZ-uhm). Metabolism is the sum of all the chemical reactions that take in and transform energy and materials from the environment. For example, plants, algae, and some bacteria use the sun’s energy to generate sugar molecules during a process called photosynthesis. Some organisms depend on obtaining food energy from other organisms. For instance, an owl’s metabolism allows the owl to extract and modify the chemi- cals trapped in its nightly prey and use them as energy to fuel activities and growth. Growth and Development All living things grow and increase in size. Some nonliving things, such as crystals or icicles, grow by accumulating more of the same material of which they are made. In contrast, the growth of living things results from the division and enlargement of cells. Cell division is the formation of two new cells from an existing cell, as shown in Figure 1-3. In unicellular organisms, the primary change that occurs following cell division is cell enlargement. In multi- cellular life, however, organisms mature through cell division, cell enlargement, and development. Development is the process by which an organism becomes a mature adult. Development involves cell division and cell differen- tiation, or specialization. As a result of development, an adult organism is composed of many cells specialized for different func- tions, such as carrying oxygen in the blood or hearing. In fact, the human body is composed of trillions of specialized cells, all of which originated from a single cell, the fertilized egg. This unicellular organism, Escherichia coli, inhabits the human intestines. E. coli reproduces by means of cell division, during which the original cell splits into two identical offspring cells. FIGURE 1-3 Observing Homeostasis Materials 500 mL beakers (3), wax pen, tap water, thermometer, ice, hot water, goldfish, small dip net, watch or clock with a second hand Procedure 1. Use a wax pen to label three 500 mL beakers as follows: 27°C (80°F), 20°C (68°F), 10°C (50°F). Put 250 mL of tap water in each beaker. Use hot water or ice to adjust the tem- perature of the water in each beaker to match the temperature on the label. 2. Put the goldfish in the beaker of 27°C water. Record the number of times the gills move in 1 minute. 3. Move the goldfish to the beaker of 20°C water. Repeat observations. Move the goldfish to the beaker of 10°C. Repeat observations. Analysis What happens to the rate at which gills move when the temp- erature changes? Why? How do gills help fish maintain homeostasis? Quick Lab mb06se_bios01.qxd 5/18/07 10:37 AM Page 8 THE SCIENCE OF LIFE 9 Reproduction All organisms produce new organisms like themselves in a process called reproduction. Reproduction, unlike other characteristics, is not essential to the survival of an individual organism. However, because no organism lives forever, reproduction is essential for the continuation of a species. Glass frogs, as shown in Figure 1-4, lay many eggs in their lifetime. However, only a few of the frogs’ off- spring reach adulthood and successfully reproduce. During reproduction, organisms transmit hereditary informa- tion to their offspring. Hereditary information is encoded in a large molecule called deoxyribonucleic acid, or DNA. A short segment of DNA that contains the instructions for a single trait of an organism is called a gene. DNA is like a large library. It contains all the books—genes—that the cell will ever need for making all the struc- tures and chemicals necessary for life. Hereditary information is transferred to offspring during two kinds of reproduction. In sexual reproduction, hereditary information recombines from two organisms of the same species. The resulting offspring are similar but not identical to their parents. For example, a male frog’s sperm can fertilize a female’s egg and form a single fer- tilized egg cell. The fertilized egg then develops into a new frog. In asexual reproduction, hereditary information from different organisms is not combined; thus the original organism and the new organism are genetically the same. A bacterium, for example, reproduces asexually when it splits into two identical cells. Change Through Time Although individual organisms experience many changes during their lifetime, their basic genetic characteristics do not change. However, populations of living organisms evolve or change through time. The ability of populations of organisms to change over time is important for survival in a changing world. This factor is also impor- tant in explaining the diversity of life-forms we see on Earth today.

All living things are made up of one or more cells. A cell is the smallest unit that can carry on all of the processes of life. Beginning in the 17th century, curious naturalists were able to use microscopes to study objects too small to be seen with the unaided eye. Their studies led them to propose the cellular basis of life. Hooke In 1665, English scientist Robert Hooke studied nature by using an early light microscope, such as the one in Figure 4-1a. A light micro- scope is an instrument that uses optical lenses to magnify objects by bending light rays. Hooke looked at a thin slice of cork from the bark of a cork oak tree. “I could exceedingly plainly perceive it to be all perforated and porous,” Hooke wrote. He described “a great many little boxes” that reminded him of the cubicles or “cells” where monks live. When Hooke focused his microscope on the cells of tree stems, roots, and ferns, he found that each had similar little boxes. The drawings that Hooke made of the cells he saw are shown in Figure 4-1b. The “little boxes” that Hooke observed were the remains of dead plant cells, such as the cork cells shown in Figure 4-1c. SECTION 1 OBJECTIVES ● Name the scientists who first observed living and nonliving cells. ● Summarize the research that led to the development of the cell theory. ● State the three principles of the cell theory. ● Explain why the cell is considered to be the basic unit of life. VOCABULARY cell cell theory Robert Hooke used an early microscope (a) to see cells in thin slices of cork. His drawings of what he saw (b) indicate that he had clearly observed the remains of cork cells (300) (c). FIGURE 4-1 (a) (b) (c) Copyright © by Holt, Rinehart and Winston. All rights reserved. 70 CHAPTER 4 Leeuwenhoek The first person to observe living cells was a Dutch trader named Anton van Leeuwenhoek. Leeuwenhoek made microscopes that were simple and tiny, but he ground lenses so precisely that the magnification was 10 times that of Hooke’s instruments. In 1673, Leeuwenhoek, shown in Figure 4-2a, was able to observe a previ- ously unseen world of microorganisms. He observed cells with green stripes from an alga of the genus Spirogyra, as shown in Figure 4-2b, and bell-shaped cells on stalks of a protist of the genus Vorticella, as shown in Figure 4-2c. Leeuwenhoek called these organisms animalcules. We now call them protists. THE CELL THEORY Although Hooke and Leeuwenhoek were the first to report observ- ing cells, the importance of this observation was not realized until about 150 years later. At this time, biologists began to organize information about cells into a unified understanding. In 1838, the German botanist Matthias Schleiden concluded that all plants were composed of cells. The next year, the German zoologist Theodor Schwann concluded the same thing for animals. And finally, in his study of human diseases, the German physician Rudolf Virchow (1821–1902) noted that all cells come from other cells. These three observations were combined to form a basic theory about the cel- lular nature of life. The cell theory has three essential parts, which are summarized in Table 4-1. Anton van Leeuwenhoek (1632–1723) is shown here with one of his hand-held lenses (a). Leeuwenhoek observed an alga of the genus Spirogyra (b) and a protist of the genus Vorticella (c). FIGURE 4-2 TABLE 4-1 The Cell Theory All living organisms are composed of one or more cells. Cells are the basic units of structure and function in an organism. Cells come only from the reproduction of existing cells. (a) (b) (c) www.scilinks.org Topic: Cell Theory Keyword: HM60241 mb06se_csfs01.qxd 5/18/07 10:54 AM Page 70

1. What is the main purpose of including theme and main idea questions in a text? a) To test your reading comprehension skills b) To understand the overall message or lesson of the text c) To practice identifying specific details in the text d) To improve your vocabulary and word knowledge 2. What is the purpose of finding the theme in a text? a) To summarize the main idea of the text in a few words b) To identify the specific details and examples in the text c) To understand the order of events in the text d) To analyze the author's writing style and techniques 3. Which of the following represents the theme of a text? a) A long sentence that describes the setting of the story b) A single word or short phrase that captures the main idea of the text c) A list of characters and their traits d) A detailed description of the plot and conflict in the story 4. How does identifying the main idea of a paragraph help you understand the text? a) It allows you to make connections between different parts of the text b) It helps you identify the author's purpose for writing the text c) It enables you to predict what will happen next in the story d) It helps you remember the specific details and examples in the paragraph 5. Which of the following best describes the main idea of a paragraph? a) The specific details and examples that support the theme of the text b) The order of events and actions in the paragraph c) The overall message or lesson conveyed by the paragraph d) The vocabulary words and their definitions in the paragraph 6. In a short paragraph about dogs, what could be a possible theme? a) Running and playing in the park b) Different breeds of dogs and their characteristics c) The loyalty and companionship dogs provide d) How to train a dog to do tricks 7. What might be the main idea of a paragraph about the importance of recycling? a) Recycling reduces pollution and conserves natural resources b) The process of recycling and how it works c) The different types of materials that can be recycled d) The history of recycling and its impact on society 8. Which of the following could be the theme of a paragraph about the benefits of reading? a) The importance of reading for academic success b) How to choose the right book to read c) The different genres of literature and their characteristics d) The role of libraries in promoting reading 9. If a paragraph discusses the life cycle of a butterfly, what would be the most likely main idea? a) The different colors and patterns of butterfly wings b) The stages of a butterfly's life from egg to adult c) The habitats and environments where butterflies live d) The types of plants that attract butterflies for feeding 10. What is the purpose of including vocabulary words and their meanings in context in a text? a) To test your knowledge of different words and their definitions b) To understand the specific details and examples in the text c) To improve your reading comprehension skills d) To practice using new words in your own writing

Place the following in order from most broad to most specific. kingdom, phylum, class, order, family, genus, species 1 30 sec Q.Sort the correct characteristics into the correct Kingdoms. This is a sorting question 2 30 sec Q.Largest group in taxonomy kingdom 3 30 sec Q.A wolf's scientific name is Canis lupus. What is it's genus? Canis lupus taxonomy wolf 4 30 sec Q.What kingdom of organisms live in wet places, are single celled and have nuclei? Protista Animalia Plantae Fungi 5 30 sec Q.What type of fungi is this? (The tree is dead) saprophytic parasitic symbiotic kingdom 6 30 sec Q.How does this protist move? with a flagella with pseudopods with cell membrane with cilia 7 30 sec Q.How does this protist move? with cilia with pseudopods with nuclei with flagella 8 30 sec Q.Match the correct term to the description. This is a linking question 9 30 sec Q.How does this protist move? with pseudopods with cilia with flagella with nuclei 10 30 sec Q.How does this protist eat? with chloroplasts with pseudopods with cilia with cell membrane 11 30 sec Q.What is the name of this protist? paramecium 12 30 sec Q.What is the name of this protist? amoeba 13 30 sec Q.What is the name of this protist? euglena 14 30 sec Q.What type of fungi feed on other organisms and harm the hosts? parasitic symbiotic saprophytic pseudopods 15 30 sec Q.Match the following terms. This is a linking question 16 30 sec Q.Mycellium are a mass of hyphae. True False 17 30 sec Q.What are the long fibrous strands that allow the fungi to collect food and water called? hyphae fruiting body spores mycellium 18 30 sec Q.When a plant or fungi grows toward light we call that response_______. phototropism 19 30 sec Q.Gravitropism refers to how plants respond to gravity light touch temperature 20 30 sec Q.Fungi can reproduce with spores and hyphae spores only asexually only sexually only 21 30 sec Q.The variable the scientist changes independent 22 30 sec Q.Sort the correct descriptions into the correct boxes. This is a sorting question 23 30 sec Back to top

What Is Rhythm in Music? Rhythm is the pattern of sound, silence, and emphasis in a song. In music theory, rhythm refers to the recurrence of notes and rests (silences) in time. When a series of notes and rests repeats, it forms a rhythmic pattern. In addition to indicating when notes are played, musical rhythm also stipulates how long they are played and with what intensity. This creates different note durations and different types of accents.Why Is Rhythm Important in Music? Rhythm functions as the propulsive engine of a piece of music, and it gives a composition structure. Most musical ensembles contain a rhythm section responsible for providing the rhythmic backbone for the entire group. Drums, percussion, bass, guitar, piano, and synthesizer may all be considered rhythm instruments, depending on the context. However, all members of a music group bear responsibility for their own rhythmic performances and play the musical beats and rhythmic patterns indicated by the piece's composer.7 Elements of Rhythm in Music Several core elements comprise the fundamentals of musical rhythm. 1. Time signature: A musical time signature indicates the number of beats per measure. It also indicates how long these beats last. In a time signature with a 4 on the bottom (such as 2/4, 3/4, 4/4, 5/4, etc.), a beat corresponds with a quarter note. So in a 4/4 time (also known as "common time"), each beat is the length of a quarter note, and every four beats form a full measure. In 5/4 time, every five beats form a full measure. In a time signature with an 8 on the bottom (such as 3/8, 6/8, or 9/8), a beat corresponds with an eighth note. 2. Meter: Standard Western music theory divides time signatures into three types of musical meter: duple meter (where beats appear in groups of two), triple meter (where beats appear in groups of three), and quadruple meter (where beats appear in groups of four). Meter is not tied to note values; for instance, a triple meter could involve three half notes, three quarter notes, three eighth notes, three sixteenth notes, or three notes of any duration. Musicians and composers regularly mix duple and triple meter in their work; Igor Stravinsky's "The Rite of Spring" is a textbook example of such a technique. 3. Tempo: Tempo is the speed at which a piece of music is played. There are three primary ways that tempo is communicated to players: beats per minute, Italian terminology, and modern language. Beats per minute (or BPM) indicates the number of beats in one minute. Certain Italian words like largo, andante, allegro, and presto convey tempo change by describing the speed of the music. Finally, some composers indicate tempo with casual English words such as “fast,” “slow,” “lazy,” “relaxed,” and “moderate.” 4. Strong beats and weak beats: Rhythm combines strong beats and weak beats. Strong beats include the first beat of each measure (the downbeat), as well as other heavily accented beats. Both popular music and classical music combine strong beats and weak beats to create memorable rhythmic patterns. 5. Syncopation: Syncopated rhythms are those that do not align with the downbeats of individual measures. A syncopated beat will put its emphasis on traditional weak beats, such as the second eighth note in a measure of 4/4. Complex rhythms tend to include syncopation. While these rhythms may be more difficult for a beginning musician to pick up, they tend to sound more striking than non-syncopated rhythmic patterns. 6. Accents: Accents refer to special emphases on certain beats. To understand accents, think of a piece of poetry. A poetic meter, such as iambic pentameter, may dictate a specific mixture of stressed syllables and unstressed syllables. Musical accents are no different. Different rhythms may share a time signature and tempo, but they stand out from one another by accenting different notes and beats. 7. Polyrhythms: To achieve a particularly ambitious sense of rhythm, an ensemble may employ polyrhythm, which layers one type of rhythm on top of another. For instance, a salsa percussion ensemble may feature congas and bongos playing 4/4 time, while the timbales concurrently play a pattern in 3/8. This creates a dense rhythmic stew and, when properly executed, it can yield incredibly danceable rhythm patterns. Polyrhythms originated in African drumming, and they’ve spread to all sorts of genres worldwide, from Afro-Caribbean to Indian to progressive rock, jazz, and contemporary classical.

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