Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 Lecture 6: Reproduction and Chromosome Transmission Drawing of the life cycle of Homo sapiens. The germ line cells of the adult male produce haploid sperm, while the adult female’s produce haploid eggs. During fertilization, a diploid zygote is formed, undergoes mitosis, and develops into a juvenile and then an adult. http://www.emc.maricopa.edu/faculty/farabee/BIOBK/BioBookmeiosis.html#Life%20Cycles I. Chromosomes Chromosomes are structures within living cells that contain the genetic material – i.e. they contain genes. Mendel knew nothing about chromosomes or genes; however, his laws predicted their behavior as they were passed through the generations Biochemically, chromosomes are comprised of DNA (the genetic material) and proteins (which provide a scaffolding, or organized structure, for the DNA to fold into a chromosome) Page 1 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 The chromosomes are different in prokaryotes and eukaryotes. Prokaryotes usually have a single, circular chromosome located in the nucleoid of the cell. The nucleoid is not surrounded by a membrane. In eukaryotes, there are usually many linear chromosomes housed inside a membrane-bound nucleus. Page 2 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 II. Cytogenetics Cytogenetics is the field of genetics that studies the structure and behavior of chromosomes. The first cytogeneticists worked in the 1880s, when microscopes finally became powerful enough to see the chromosomes inside living cells and observe their behavior. Multicellular organisms generally have two types of cells: Somatic cells (e.g. meristem, flower petals, liver, skin) o These cells have no potential immortality and are diploid in most multicellular eukaryotes o Diploid cells have two sets of chromosomes (two copies of the organism’s genome) Germ line cells (eggs and sperm) o These cells are potentially immortal and are haploid o Haploid cells have only one set of chromosomes (one copy of the organism’s genome) In a cytogenetics laboratory, the microscopes are equipped with cameras. Microscopic images of the chromosomes from a donor sample are scanned into a computer and organized in pairs (if the donor cells are diploid) from largest to smallest. This produces a karyotype – a photographic image of the chromosomes inside a cell. A karyotype prepared from the white blood cells of a normal male human. Note that since blood cells are somatic, they are also diploid and contain two complete sets of chromosomes (two of each kind). Humans have 23 chromosomes per set, so a normal diploid cell contains 46. http://aspin.asu.edu/geneinfo/karyo.htm Page 3 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 Organisms differ in the number of chromosomes per genome: Humans: 23 per set Dogs: 39 per set Fruit flies: 4 per set Thus, a human egg (haploid) has 23 chromosomes but a human liver cell (diploid) has 46 (two sets of 23). III. Homologous Chromosomes Eukaryotic chromosomes are usually inherited in sets, one from the mother (via the egg) and one from the father (via the sperm). Members of a pair of chromosomes (e.g. the copy of chromosome 7 you received from your father and the copy you received from your mother) are called homologoues. The two chromosomes in a homologous pair: Are identical (or nearly so) in size Have the same banding pattern and centromere location Carry the same genes in the same order o But not necessarily the same alleles Are nearly identical in DNA sequence (differ at about 1 in every 500 bp) The physical location of a gene on a chromosome is called its locus. Note that the centromeres of homologous chromosome are NOT connected. This fact will become important later in understanding the difference between sister Page 4 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 chromatids (which are connected at the centromere and are exactly alike) and homologous chromosomes (which are never connected at the centromere and differ slightly from one another). IV. Cell Division Cells divide for many reasons: a. In single-celled organisms, asexual reproduction Bacteria, amoeba, yeast b. In multicellular organisms: Growth (esp. during embryogenesis in animals but throughout the life cycle of plants) Repair and replacement of old/unhealthy cells These processes does not involve the contributions from two parent cells but are basically a cloning of a cell to create two identical daughter cells. 1. BINARY FISSION Prokaryotes divide quickly (once every 20 minutes in E. coli) by binary fission. Single circular chromosome is replicated Cell divides and each daughter cell contains one copy of the circular genome Does not involve contributions from two parent cells, only one See Figure 3.4, Brooker 2. MITOSIS Eukaryotic cells divide more slowly (some rarely divide at all) and do so in a much more complex and orderly way. See Figure 3.5, Brooker In actively dividing cells, G1, S, and G2 are collectively called interphase. Cells that are not actively dividing (e.g. human neurons) are said to be “resting” in G0. Cells do Page 5 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 not generally undergo division unless they receive a signal from outside the cell to do so. During G1, a cell receives an external signal to divide and commits itself to replicating its chromosomes and dividing its cytoplasm. In S phase, the cell replicates its chromosomes. Replicates are held together at the centromere and each replicate is called a chromatid. The two chromatids are called sister chromatids. A better term for sister chromatids might be “identical twin chromatids” because sister chromatids are products of the most recent round of DNA replication and are thus likely to be exactly identical. See Figure 3.6(b), Brooker Note that at the end of S phase, a cell has twice as many chromatids as there are chromosomes in G1. For example, a human cell has 46 chromosomes in G1 and 46 pairs of sister chromatids (also called chromosomes) at the end of S phase. Therefore, the term chromosome can refer either to: A single unreplicated chromatid in G1 A replicated pair of sister chromatids (end of S phase, G2, and entering mitosis). In G2, the cell grows and prepares to divide. It also checks its DNA to make sure that no major errors occurred during S phase. If the DNA is not healthy, the cell will usually “commit suicide” along a specialized path called apoptosis. Just before the cell enters mitosis, the centrosome (which will later give rise to the spindle apparatus that seprates the sister chromatids) also replicates. Page 6 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 Mitosis is divided into five phases: Prophase o Chromosomes begin to condense and become visible by light microscopy o Nuclear envelope dissociates into small vesicles o Centrosomes separate to opposite poles of the cell o The spindle apparatus is formed Prometaphase o The centrosomes have reached opposite poles of the cell o The chromosomes are not yet maximally condensed and are perfect at this point for staining (banding) and karyotyping Metaphase o Spindle fibers attach to centromeres (at a specialized structure called the kinetochore) and move the sister chromatid pairs to the center of the cell o The sister chromatid pairs line up on the “metaphase plate”, an imaginary plane that slices across the equatorial midline of the cell Page 7 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 o Homologous pairs ignore one another during this process and line up on the metaphase plate independently Anaphase o The connection between sister chromatids is broken at the centromere and the chromatids are now independent chromosomes o The former sister chromatids move to opposite sides of cell, pulled by spindle fibers Telophase o The chromosomes reach their opposite poles and begin to decondense o The nuclear membrane reforms around each new daughter nucleus o A cleavage furrow (in animals) or a cell plate (in plants) begins to form across the metaphase plate Telophase is then quickly followed by cytokinesis, or the division of the cytoplasm to form two independent daughter cells. Mitosis and cytokinesis ultimately form two daughter cells that have the same number and kind of chromosomes as the mother cell. Thus, barring rare mutations, the daughter cells are exact genetic clones of one another. Page 8 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 Thus, mitosis ensures genetic continuity from one generation of cells to the next and does not give rise to genetic variation (except through rare mutations that occur during DNA replication). 3. MEIOSIS Organisms that reproduce sexually also undergo a specialized kind of cell division called meiosis. Meiosis does give rise to genetic variation and is quite different from mitosis, though the two processes have many superficial similarities. There are two main events that occur during meiosis: a. The number of sets of chromosomes is halved b. Allelic combinations are scrambled to produce genetic variation In order to accomplish this, meiosis differs from mitosis in key ways: Meisois has two cell divisions (meiosis I and meiosis II), while mitosis has only one Homologues exchange parts during meiosis, while they ignore one another during mitosis In meiosis, homologues move to the metaphase plate together during meiosis I and segregate from one another during anaphase I; sister chromatids segregate in meiosis II. In mitosis, homologues never segregate from one another. Meiosis I Like mitosis, meiosis I and meiosis II can be broken down into 5 phases. Note, however, that very different events are occurring in meiosis I than occurred in the same phases of mitosis. Prophase I o Chromosomes condense and become visible by light microscopy o Homologous chromosomes find one another, pair up, and physically exchange parts in a process called crossing over. o Your text goes into a great deal of detail about this process, but all you need to know for this course is the overall picture. Page 9 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 Prometaphase I o At the start of prometaphase I, the homologues are still connected together and thus are moved to the metaphase plate by the spindle fibers as a unit o Meanwhile, the nuclear envelope has completed its fragmentation Metaphase I o Homologues are lined up across the metaphase plate from one another and prepare to segregate. Note that this is quite different from mitosis, where only one pair of sister chromatids is aligned on the plate at any given spot. Page 10 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 Anaphase I o Homologoues segregate to opposite poles. This is the point during meiosis that the chromosome number is halved. Note that each daughter cell will receive only one chromosome of each type. Telophase I o Nuclear envelopes reform, cleavage furrow (or cell plate) is visible, and cell prepares for cytokinesis Meiosis II Meiosis II involves the mitotic divisions of the two haploid cells produced by meiosis I. In meiosis II, the sister chromatids of each chromosome segregate and enter new cells. At the end of the entire process of meiosis, then, there are four haploid cells, all of which are different from one another and from the original parent cell. The four haploid products of meiosis are called gametes. In higher organisms (plants and animals), two very different types of gametes are formed: eggs and sperm. Page 11 Modified from http://www.mhhe.com/brooker BIO 184 Fall 2006 LECTURE 6 ? Page 12