Chapter 8 The Cellular Basis of Reproduction and Inheritance Overview In this chapter we will begin our exploration of the process of cell division, which is a precursor to later discussions on patterns of inheritance and genetics. First we will examine the structure of the chromosome and the importance of chromosome number. Second we will look at the life cycle of the cell and the key stages within this cycle. Mitosis, or nuclear division, is a fluid process, but in order to study it we will first have to break it down into stages. In each stage we will learn what is occurring in the cell. The major stages that we will examine are: prophase, metaphase, anaphase & telophase. Then we will examine the process of cytokinesis, or cytoplasmic division and the differences between plant and animal cells. The process of mitosis produces two identical daughter cells, a useful process when variation is not needed. However, in order to respond to changes in the environment, new genetic combinations are often required. The process of meiosis, or "reduction division", provides a method of generating new unique genetic combinations. The process of meiosis in simply two consecutive mitosis events without an intervening interphase. However, the chromosomes align differently in meiosis to allow for new genetic combinations to be formed. There are three mechanisms by which genetic variation in generated: crossing-over, independent assortment and random fertilization of gametes. We will examine each of these in this unit. Assigned Reading Text, Pages 125-148 PowerPoint Presentation Chapter Review, Page 149-150 Testing Your Knowledge, Page 150-151 Key Terms Chromosome Binary fission Chromatin Sister chromatids Centromere, kinetochore Mitosis, meiosis Interphase (with G1, S, and G2 phases) Prophase, metaphase, anaphase, Telophase Cytokinesis Diploid, haploid Homologous chromosome Centrosomes (Centrioles) Spindle fibers (microtubules) Growth factors, density-dependent inhibition, anchorage dependence Metastasis Somatic cells, gametes Synapsis Crossing over Allele Karyotyping Nondisjunction, deletion, duplication, inversion, translocation Trisomy, Down syndrome Klinefelter syndrome, Turner syndrome Introduction In the initial chapters of our course we described living organisms as having the capability for reproduction. In this chapter we will examine the process by which the eukaryotic cells divide. A few key points to keep in mind while you begin this chapter. First, each new cell must have an exact copy of the genetic material, and second each cell must have sufficient metabolic machinery to function after division. As you read the second part of the chapter you will quickly notice that the process of meiosis is very similar to that of mitosis. In fact, we will see that meiosis is two consecutive divisions without an intervening interphase. Why change the process? Mitosis produced 2 identical daughter cells, yet in the beginning of the course we mentioned that in the process of natural selection that there is variation among offspring. If mitosis did not produce the variation, then we must have a process which does. In this chapter you need to focus on the methods of producing variation. Steps of meiosis are very similar to those found in mitosis. It is important that you understand the process of mitosis thoroughly since the next few chapters will rely upon this knowledge. Chromosomes Before we begin examining the process of cell division, we need to examine the structure of a chromosome. Chromosomes are protein—DNA complexes which serve to organize the DNA. We each have 2 copies of each chromosome: one from our mother and one from our father. The term for this condition is diploid, while cells that only have one copy are called haploid. After formation of the zygote, cell division (for most organisms) ensures that all of the following cells (called daughter cells) are also diploid. In order for this to happen we must duplicate the genetic material. Examine Figure 8.4B carefully. Notice that when a single chromosome is duplicated, the replicate remains joined to the original at a site called a centromere. These chromatids are identical (for our purposes) and thus are called sister chromatids. Remember that you would have two copies of each chromosome (a chromosme 7 from mom and a chromosome 7 from dad). These chromosomes are not identical, since your mother and father are different individuals, but they are similar in the instructions that each contains. We call these chromosomes homologous chromosomes, meaning similar. Cell Cycle Cells have a life cycle associated with them. Examine Figure 8.5 as you read this section. Notice that the cell cycle is divided into two major areas: Interphase and mitosis/cytokinesis. Interphase is the working phase of the cell, this is when it performs the functions required by the organism. Mitosis is cell division. The cell cycle is a fluid process, and in some cells may take only 20 minutes or less to complete. Notice that Interphase consists of 2 growth phases and a period of DNA replication called S phase. In S phase we manufacture the sister chromatids mentioned above. Missing from Figure 8.5 is a phase called G-0 phase. Not all cells follow this cycle, some cells are arrested at certain points in the cycle and leave the normal cell division. These cells are said to have entered a G-0 phase. A good example of these would be some neuron cells. A significant amount of scientific research is going into understanding the signals that these cells use. Imagine being able to put cancer cells into G-0 phase or take neuron cells out of G-0 phase! Prophase Remember that mitosis is cellular division and that for eukaryotic cells the genetic material is located within the nucleus of the cell. The first stage of mitosis is basically a preparation stage. However, several important processes occur in this first step. Structures known as centrioles exist in the cytoplasm of the cell. Centrioles direct the operation of microtubules (part of the cytoskeleton) which will be used to divide the sister chromatids in later stages. In prophase, the centrioles begin to migrate to opposite poles, microtubule spindle fibers begin to be formed and nuclear envelope dissolves. Inside the nucleus, the DNA, which had existed as long strands, begins to condense in preparation for division. Metaphase Remember that the stages of mitosis are fluid, with no gaps in the process. The second stage of the process is called metaphase. In metaphase the chromosomes line along along a central imaginary line called a metaphase plate. Spindle fibers from each of the centrioles had attached to the centromere (central area of the chromosome) towards the end of prophase. Note that the homologous chromosomes act independently of one another. Anaphase Metaphase is brief. Once the chromosomes are aligned along the metaphase plate, the spindle fibers (under the direction of the centrioles) shorten and the sister chromatids are separated. One the sister chromatids are no longer attached, we have entered anaphase. Telophase The last major phase of mitosis occurs when the sister chromatids ( now called chromosomes again) reach the opposite poles of the cell. At this point, the nuclear envelope reforms around the genetic material. Cytokinesis Recall from the beginning of this lecture that the process of cell division involves not only the division of the genetic material, but also the division of the cellular components. The process of mitosis divided the genetic material and now the process of cytokinesis will divide the cellular machinery. There are two methods by which this can occur depending on whether it is happening in an animal cell (Figure 8.7A) or a plant cell ( Figure 8.7B). Please examine these figures closely and note the differences and similarities. Sexual vs. Asexual Reproduction From this point on in the course the terms sexual reproduction should immediately bring to mind the introduction of variation, which asexual reproduction can be considered cloning (not exactly true, but the association is helpful). Meiosis is the process of sexual reproduction, and we will see below that it introduces variation into the cell division in three manners. Meiosis is often called "reduction division" since the end result is cells with half the original number of chromosomes. In other words, we start with diploid cells and end up with haploid cells. These haploid cells (as we will see below) are eventually called gametes. Please take some time now to examine Figure 8.14, it is very important. First Level of Genetic Variation One of the first differences between mitosis and meiosis is that in the prophase I of meiosis the homologous chromosomes pair up with one another. Compare and contrast the diagram below. In mitosis, homologous chromosomes acted independently, that is, the two copies of chromosome 7 (for example) in the cell did not exchange any material. In meiosis, not only do the homologous chromosomes pair up, they actually exchange genetic information. This is shown very nicely in Figure 8.18B of the text. This process is called crossing over and is much more complicated then it appears. Crossing over must be exact, since genetic material can't be safely deleted or extra added without endangering the organism. Your text shows crossing over occurring at the tips of the chromosomes. But actually, crossing over can occur in any number of locations, and at multiple times, on the same chromosome. Thus, this process produces new chromatids that have genetic variations which are combinations of the homologous chromosomes. This is the first (and most influential) mechanisms of producing variation. Second Level of Genetic Variation For a brief moment, let us assume that crossing over does not occur (to simplify the picture). As we have noted, meiosis is unlike mitosis in that the homologous chromosomes pair up during meiosis which in mitosis they act independently on one another. Since we have two copies of each chromosome (one we got from mom, the other from dad), and they are pairing up, then there are two possible ways that each pair can align themselves. Look at figure 8.16. Notice that since we have 23 pairs of chromosomes; there are 8,388,608 different ways that these chromosomes can align themselves at metaphase I. Now let us bring the crossing over back into the picture. Crossing over has the capability of producing endless variation and we can see what happens above at metaphase I. But we are not done yet. Third Level of Genetic Variation There are many similarities in the meiosis process in males and females, and a number of distinct differences. After the gametes are produced (each with its own unique genetic signature) there is no way of knowing which single egg will be fertilized by which sperm. So if there are over 8 million different egg genetic combinations (from metaphase I above) and over 8 million different sperm genetic combinations (same), then each new zygote caused by the fertilization of an egg by a sperm represents a 1:64 trillion chance ( 8 million x 8 million). To look at it another way—your parents would need to have over 64 trillion children before producing an exact replica of you. You could hit the lottery 10,000 times first! Meiosis & Mitosis Compared It is very important that you be able to tell the difference between mitosis and meiosis for the next exam. Figure 8.15 and the review slides of the PowerPoint presentation sum up these processes. If you do not completely understand the mechanisms of producing variation, please review the material above again and/or email me. Chromosome Abnormalities It really is amazing that during the mixing of genetics more things don’t go wrong. There are many ways the body protects against this, but it does happen. Many times this is an abnormality during crossing over, when the homologous chromosomes don’t align properly. Alleles or DNA sequences may be duplicated, deleted, inverted, or otherwise switched. This has the potential of causing from mild to severe genetic disorders. Besides crossing over mistakes, there can be disorders of nondisjunction, where the chromosomes do not separate properly during meiosis. This can cause abnormal chromosome numbers in the gamete, either too many or too few. The most well-known of these is Down syndrome, which is a result of a nondisjunction leading to an extra chromosome 21. It is important to make sure you understand where and how these abnormalities occur, as well as the kinds of problems that can happen. Be sure to study both your text and the PowerPoint carefully. Links of Interest Cells Alive ! : Link on bacterial reproduction (not mitosis), but includes a nice movie on E. coli reproduction Mitosis pages at Oklahoma State University. Nice graphics and links to additional tutorial sites Interactive Mitosis Tutorial. Prepared by Kathleen Fisher and Jeff Sale The Biology Project - The University of Arizona: Cell Cycle, Mitosis Online Biology Text by MIT: Link to review page on meiosis has some very good diagrams of crossing over Concepts Understand the importance of mitosis Understand the structure of the chromosome and the key terms associated with cell number. Know the major events in each stage of the cell cycle. Know the stages of mitosis and what is happening in each. Recognize the differences between cytokinesis in plants and animals. Recognize the differences and similarities between meiosis and mitosis. Understand why meiosis is called “reduction division”. Know the relationship between genetic variation and meiosis. Understand the major stages of meiosis and the chromosome number (haploid/diploid) of each stage. Understand the different ways chromosomes can be abnormal and the consequences of each. Specifically be able to recognize and/or describe duplication, deletion, inversion, translocation, and nondisjunction. Be able to explain how Down syndrome occurs. Describe polyploidy in sex chromosomes and what this can cause. Review Material MyBiology.com—Study guides and resource for this text. Specifically look at MP3 Tutor and all Web Activities