Mendelian and Molecular Genetics
The word inheritance usually brings to mind money or property left by a relative who has passed away. But there’s another type of inheritance that is right under our noses—actually, your nose is part of the inheritance. Every living organism has characteristics or features that it passes on to its offspring. These tendencies of heredity are obvious: even a child knows cows give birth only to other cows, and that children often look like their parents. But, in fact, the specific biological mechanisms that allow parents to transmit their features to their offspring were an enormous mystery until about 140 years ago. Scientists back then knew that parents somehow made a tiny copy of themselves inside an egg or a sperm, but they had no idea what these copies were or how they worked.
Then, in the 1860s, an Austrian monk named Gregor Mendel started breeding peas in his garden. Where others saw only plants, Mendel looked deeper and found the basic units of heredity we now call genes. If you remember from the last chapter, genes are the parts of a chromosome that are transcribed to mRNA and are ultimately translated to the proteins essential to cellular processes. Mendel had no knowledge of protein synthesis and had never seen a chromosome, but his simple experiments with peas and the laws he developed to describe the behavior of hereditary—now termed classical genetics—have provided the foundation for the modern field of molecular genetics, the study of heredity on the molecular level.
For the SAT II Biology, you need a solid understanding of the basic laws and patterns of both classical genetics and molecular genetics. Questions on genetics can make up anywhere from 14 to 20 percent of the core of the SAT II Biology. In addition, the “M” section of the Biology E/M test focuses on evolution in terms of molecular biology, including genetics.
Basis of Inheritance: Meiosis
Mitosis takes a diploid cell and creates a nearly exact copy. Mitosis has two main functions: (1) it leads to the creation of all of the somatic (body) cells in humans and other living organisms; (2) in organisms that undergo asexual reproduction, diploid parent cells undergo mitosis to create identical daughter copies of themselves. Mitosis creates a daughter cell with chromosomes that are identical to the chromosomes in its parent cell.
But humans and most other complex plants and animals each have a unique set of chromosomes. This diversity of chromosomes is the result of sexual reproduction, which involves the contribution of the genetic material from not one, but two parents. During sexual reproduction the father’s haploid sperm cell and the mother’s haploid ovum (egg) cell fuse to form a single-celled diploid zygote that then divides billions of times to form a whole individual.
In order for sexual reproduction to take place, however, the parents first need to have haploid sperm or ova, also called sex cells, germ cells, or gametes. Meiosis is the name for the special type of cell division that produces gametes.
Process of Meiosis
Unlike the single-cell division of mitosis, meiosis involves two cellular divisions: meiosis I and meiosis II. Each stage of meiosis runs through the same five stages as discussed in mitosis. During the first round of division, two intermediate daughter cells are produced. By the end of the second round of meiotic division (meiosis II), the original diploid (2n) cell has become four haploid (n) daughter cells.
Meiosis I
Meiosis I is quite similar to mitosis. However, there are a number of crucial differences between meiosis I and mitosis, all of which will be outlined in the discussion of each individual stage below.
INTERPHASE I
Just as in mitosis, the cell undergoes DNA replication during this intermediate phase. After replication, the cell has a total of 46 chromosomes, each made up of two sister chromatids joined by a centromere.
PROPHASE I
The major distinction between mitosis and meiosis occurs during this phase. In mitotic prophase, the double-stranded chromosomes line up individually along the spindle. But in meiotic prophase I, chromosomes line up along the spindle in homologous pairs. Then, in a process called synapsis, the homologous pairs actually join together and intertwine, forming a tetrad (two chromosomes of two chromatids each, or four total chromatids). Often this intertwining leads the chromatids of homologous chromosomes to actually exchange corresponding pieces of DNA, a process called crossing-over or genetic reassortment. Throughout prophase I, sister chromatids behave as a unit and are identical except for the region where crossover occurred.
METAPHASE I
After prophase I, the meiotic cell enters metaphase I. During this phase, the nuclear membrane breaks down, allowing microtubules access to the chromosomes. Still joined at their crossover regions in tetrads, the homologous pairs of chromosomes, with one maternal and one paternal chromosome in each pair, align at the center of the cell via microtubules, as in mitotic metaphase. The pairs align in random order.
ANAPHASE I
Anaphase I differs slightly from its mitotic counterpart. In mitotic anaphase, sister chromatids split at their centromeres and are pulled apart toward opposite poles. In contrast, during anaphase I, the centromeres do not split: the entire maternal chromosome of a homologous pair is pulled to one end, and the paternal chromosome is pulled to the other end.
TELOPHASE I
During telophase I, the chromosomes arrive at separate poles and decondense. Nuclear membranes re-form around them. The cell physically divides, as in mitotic cytokinesis.
THE PRODUCT OF MEIOSIS I
Meiosis I results in two independent cells. One cell contains the maternal homologous pair, with a small segment of the paternal chromosome from crossover. The other cell contains the paternal homologous pair, likewise with a small segment of the maternal chromosome. Despite the small region of crossover in the chromosomes of each cell, the maternal sister chromatids are still quite similar, as are the paternal sister chromatids. Both cells formed by meiosis I contain a haploid amount of DNA.
The cells produced in meiosis I are different from those produced in mitosis because both haploid members of the meiotic pair derive from random assortments of either the maternal or paternal chromosomes from each homologous pair (with the exception of the small crossover sections). In mitosis, the cellular division separates sister chromatids and results in diploid cells containing one maternal and one paternal copy in each diploid pair.
Meiosis II
The cells produced by meiosis I quickly enter meiosis II. These cells do not undergo DNA replication before entering meiosis II. The two cells that move from meiosis I into meiosis II are haploid—each have 23 replicated chromosomes, rather than the 46 that exist in cells entering both mitosis and meiosis I.
Meiotic division II occurs through the familiar phases from meiosis I and mitosis. To distinguish the phases, they are called prophase II, metaphase II, anaphase II, and telophase II. One important difference between the events of meiosis I and II is that no further genetic reassortment takes place during prophase II. As a result, prophase II is much shorter than prophase I. In fact, all of the phases of meiosis II proceed rapidly.
During meiosis II, chromosomes align at the center of the cell in metaphase II exactly the way they do in mitotic metaphase. In anaphase II, the sister chromatids separate, once again in the same fashion as occurs in mitotic anaphase. The only difference is that since there was no second round of DNA replication; only one set of chromosomes exists. When the two cells split at the end of meioisis II, the result is four haploid cells.
Of the four haploid cells, one cell is composed completely of a maternal homologue, another of a maternal homologue with a small segment of paternal DNA from crossover in meiosis I, another complete paternal homologue, and a final paternal homologue with a small segment of maternal DNA from crossover in meiosis I. These four haploid cells are the gametes, the sperm or egg cells, that fuse together in sexual reproduction to create new individuals.
Spermatogenesis and Oogenesis
Meiosis, the process by which gametes are formed, can also be called gametogenesis, literally “creation of gametes.” The specific type of meiosis that forms sperm is called spermatogenesis, while the formation of egg cells, or ova, is called oogenesis. The most important thing you need to remember about both processes is that they occur through meiosis, but there are a few specific distinctions between them.
Spermatogenesis
The male testes have tiny tubules containing diploid cells called spermatogonium that mature to become sperm. The basic function of spermatogenesis is to turn each one of the diploid spermatogonium into four haploid sperm cells. This quadrupling is accomplished through the meiotic cell division detailed in the last section. During interphase before meiosis I, the spermatogonium’s 46 single chromosomes are replicated to form 46 pairs of sister chromatids, which then exchange genetic material through synapsis before the first meiotic division. In meiosis II, the two daughter cells go through a second division to yield four cells containing a unique set of 23 single chromosomes that ultimately mature into four sperm cells. Starting at puberty, a male will produce literally millions of sperm every single day for the rest of his life.
Oogenesis
Just like spermatogenesis, oogenesis involves the formation of haploid cells from an original diploid cell, called a primary oocyte, through meiosis. The female ovaries contain the primary oocytes. There are two major differences between the male and female production of gametes. First of all, oogenesis only leads to the production of one final ovum, or egg cell, from each primary oocyte (in contrast to the four sperm that are generated from every spermatogonium). Of the four daughter cells that are produced when the primary oocyte divides meiotically, three come out much smaller than the fourth. These smaller cells, called polar bodies, eventually disintegrate, leaving only the larger ovum as the final product of oogenesis. The production of one egg cell via oogenesis normally occurs only once a month, from puberty to menopause.
