2-1: Cellular Links to Genetic Disease The cell is the basic unit of structure and function. Mutations cause gene products to be absent or to malfunction, and these changes are reflected as abnormalities in cells. As a result, the study of cells is a basic part of genetics. 2-2: The Chemistry of Cells Cells contain four classes of macromolecules: carbohydrates, lipids, proteins, and nucleic acids. These molecules provide the structural and functional framework for all cells. Mutations in genes that affect the structure or function of these macromolecules create genetic disorders. 2-3: Cell Structure Reflects Function The cell is the basic unit of structure and function in all organisms, including humans. Because genes control the number, size, shape, and function of cells, the study of cell structure helps us understand how genetic disorders disrupt cellular processes. In humans, 46 chromosomes-the 2n, or diploid, number-are present in most cells, whereas specialized cells known as gametes contain half that number-the n, or haploid, number-of chromosomes. 2-4: The Cell Cycle Describes the Life History of a Cell At some point in their life, cells pass through the cell cycle, a period of non-division (interphase) that alternates with division of the nucleus (mitosis) and division of the cytoplasm (cytokinesis). Cells must contain a complete set of genetic information. This is ensured by replication of each chromosome and by the distribution of a complete chromosomal set in the process of mitosis. Mitosis (division) is one part of the cell cycle. During interphase (non-division), a duplicate copy of each chromosome is made. The process of mitosis is divided into 4 stages: prophase, metaphase, anaphase, and telophase. In mitosis, one diploid cell divides to form 2 diploid cells. Each cell has an exact copy of the genetic information contained in the parental cell. 2-5: Mitosis Is Essential for Growth and Cell Replacement
Human cells are genetically programmed to divide about 50
times. This limit allows growth to adulthood and repairs such as wound healing. Alterations in this program can lead to genetic disorders of premature aging or to cancer.
2-6: Cell Division by Meiosis: The Basis of Sex
Meiosis is a form of cell division that produces haploid cells containing only one copy of each chromosome. In an early stage of meiosis, members of a chromosome pair physically associate. At this time, each chromosome consists of 2 sister chromatids joined by a common centromere. In metaphase I, pairs of homologous chromosomes line up at the equator of the cell. In anaphase I, members of a chromosome pair separate from each other. Meiosis I produces cells that contain 1 member of each chromosome pair. In meiosis II, the unpaired chromosomes line up at the middle of the cell. In anaphase II, the centromeres divide, and the daughter chromosomes move to opposite poles. The 4 cells produced in meiosis contain the haploid number (23 in humans) of chromosomes. 2-7: Formation of Gametes In males, cells in the testes (spermatagonia) divide by mitosis to form spermatocytes, which undergo meiosis to form spermatids. Spermatids undergo structural changes to convert them into functional sperm. In females, ovarian cells (oogonia) divide by mitosis to form primary oocytes. The primary oocytes undergo meiosis. In female meiosis, division of the cytoplasm is unequal, leading to the formation of one functional gamete and three smaller cells known as polar bodies.