THE MACHINERY OF INHERITANCE Introduction

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There is nothing new under the sun, says the Bible. Nor is the sun itself new, we might add. As long as life has existed on earth, it has been exposed to radiation from the sun, so that life and radiation are old acquaintances and have learned to live together.

We are accustomed to looking upon sunlight as something good, useful, and desirable, and certainly we could not live long without it. The energy of sunlight warms the earth, produces the winds that tend to equalize earth’s temperatures, evaporates the oceans and produces rain and fresh water. Most important of all, it supplies what is needed for green plants to convert carbon dioxide and water into food and oxygen, making it possible for all animal life (including ourselves) to live.

Yet sunlight has its dangers, too. Lizards avoid the direct rays of the noonday sun on the desert, and we ourselves take precautions against sunburn and sunstroke.

The same division into good and bad is to be found in connection with other forms of radiation—forms of which mankind has only recently become aware. Such radiations, produced by radioactivity in the soil and reaching us from outer space, have also been with us from the beginning of time. They are more energetic than sunlight, however, and can do more damage, and because our senses do not detect them, we have not learned to take precautions against them.

To be sure, energetic radiation is present in nature in only very small amounts and is not, therefore, much of a danger. Man, however, has the capacity of imitating nature. Long ago in dim prehistory, for instance, he learned to manufacture a kind of sunlight by setting wood and other fuels on fire. This involved a new kind of good and bad. A whole new technology became possible, on the one hand, and, on the other, the chance of death by burning was also possible. The good in this case far outweighs the evil.

In our own twentieth century, mankind learned to produce energetic radiation in concentrations far surpassing those we usually encounter in nature. Again, a new technology is resulting and again there is the possibility of death.

The balance in this second instance is less certainly in favor of the good over the evil. To shift the balance clearly in favor of the good, it is necessary for mankind to learn as much as possible about the new dangers in order that we might minimize them and most effectively guard against them.

To see the nature of the danger, let us begin by considering living tissue itself—the living tissue that must withstand the radiation and that can be damaged by it.

Cells and Chromosomes

The average human adult consists of about 50 trillion cells—50 trillion microscopic, more or less self-contained, blobs of life. He begins life, however, as a single cell, the fertilized ovum.

After the fertilized ovum is formed, it divides and becomes two cells. Each daughter cell divides to produce a total of four cells, and each of those divides and so on.

There is a high degree of order and direction to those divisions. When a human fertilized ovum completes its divisions an adult human being is the inevitable result. The fertilized ovum of a giraffe will produce a giraffe, that of a fruit fly will produce a fruit fly, and so on. There are no mistakes, so it is quite clear that the fertilized ovum must carry “instructions” that guide its development in the appropriate direction.

These “instructions” are contained in the cell’s chromosomes, tiny structures that appear most clearly (like stubby bits of tangled spaghetti) when the cell is in the actual process of division. Each species has some characteristic number of chromosomes in its cells, and these chromosomes can be considered in pairs. Human cells, for instance, contain 23 pairs of chromosomes—46 in all.

When a cell is undergoing division (mitosis), the number of chromosomes is temporarily doubled, as each chromosome brings about the formation of a replica of itself. (This process is called replication.) As the cell divides, the chromosomes are evenly shared by the new cells in such a way that if a particular chromosome goes into one daughter cell, its replica goes into the other. In the end, each cell has a complete set of pairs of chromosomes; and the set in each cell is identical with the set in the original cell before division.

Mitosis

Interphase
Prophase
Metaphase
Anaphase
Telophase
Interphase

To study chromosomes, scientists begin with a cell that is in the process of dividing, when chromosomes are in their most visible form. Then they treat the cell with a chemical, a derivative of colchicine, to arrest the cell division at the metaphase stage (see mitosis diagram on preceding page). This brings a result like the photomicrograph above; the chromosomes are visible but still too tangled to be counted or measured. Then the cell is treated with a low-concentration salt solution, which swells the chromosomes and disperses them so they become distinct structures, as below.

Cell after treatment with salt solution

The separate chromosomes in a dividing cell are photographed and then can be identified by their overall length, the position of the centromere, or point where the two strands join, and other characteristics. The photomicrograph can then be cut apart and the chromosomes grouped in a karyotype, which is an arrangement according to a standard classification to show chromosome complement and abnormalities. The karotype below is of a normal male, since it shows X and Y sex chromosomes and 22 pairs of other, autosomal, chromosomes. By contrast, the cells in the upper pictures are abnormal, with only 45 chromosomes each.

In this way, the fundamental “instructions” that determine the characteristics of a cell are passed on to each new cell. Ideally, all the trillions of cells in a particular human being have identical sets of “instructions”.[1]

Enzymes and Genes

Each cell is a tiny chemical factory in which several thousand different kinds of chemical changes are constantly taking place among the numerous sorts of molecules that move about in its fluid or that are pinned to its solid structures. These chemical changes are guided and controlled by the existence of as many thousands of different enzymes within the cell.

Enzymes possess large molecules built up of some 20 different, but chemically related, units called amino acids. A particular enzyme molecule may contain a single amino acid of one type, five of another, several dozen of still another and so on. All the units are strung together in some specific pattern in one long chain, or in a small number of closely connected chains.

Every different pattern of amino acids forms a molecule with its own set of properties, and there are an enormous number of patterns possible. In an enzyme molecule made up of 500 amino acids, the number of possible patterns can be expressed by a 1 followed by 1100 zeroes (10¹¹).

Every cell has the capacity of choosing among this unimaginable number of possible patterns and selecting those characteristic of itself. It therefore ends with a complement of specific enzymes that guide its own chemical changes and, consequently, its properties and its behavior. The “instructions” that enable a fertilized ovum to develop in the proper manner are essentially “instructions” for choosing a particular set of enzyme patterns out of all those possible.

The differences in the enzyme-guided behavior of the cells making up different species show themselves in differences in body structure. We cannot completely follow the long and intricate chain of cause-and-effect that leads from one set of enzymes to the long neck of a giraffe and from another set of enzymes to the large brain of a man, but we are sure that the chain is there. Even within a species, different individuals will have slight distinctions among their sets of enzymes and this accounts for the fact that no two human beings are exactly alike (leaving identical twins out of consideration).

Each chromosome can be considered as being composed of small sections called genes, usually pictured as being strung along the length of the chromosome. Each gene is considered to be responsible for the formation of a chain of amino acids in a fixed pattern. The formation is guided by the details of the gene’s own structure (which are the “instructions” earlier referred to). This gene structure, which can be translated into an enzyme’s structure, is now called the genetic code.

Stained section of one cell from salivary gland of Drosophila, or fruit flies, reveals dark bands that may be genes controlling specific traits.

If a particular enzyme (or group of enzymes) is, for any reason, formed imperfectly or not at all, this may show up as some visible abnormality of the body—an inability to see color, for instance, or the possession of two joints in each finger rather than three. It is much easier to observe physical differences than some delicate change in the enzyme pattern of the cells. Genes are therefore usually referred to by the body change they bring about, and one can, for instance, speak of a “gene for color blindness”.

A gene may exist in two or more varieties, each producing a slightly different enzyme, a situation that is reflected, in turn, in slight changes in body characteristics. Thus, there are genes governing eye color, one of which is sufficiently important to be considered a “gene for blue eyes” and another a “gene for brown eyes”. One or the other, but not both, will be found in a specific place on a specific chromosome.

The two chromosomes of a particular pair govern identical sets of characteristics. Both, for instance, will have a place for genes governing eye color. If we consider only the most important of the varieties involved, those on each chromosome of the pair may be identical; both may be for blue eyes or both may be for brown eyes. In that case, the individual is homozygous for that characteristic and may be referred to as a homozygote. The chromosomes of the pair may carry different varieties: A gene for blue eyes on one chromosome and one for brown eyes on the other. The individual is then heterozygous for that characteristic and may be referred to as a heterozygote. Naturally, particular individuals may be homozygous for some types of characteristics and heterozygous for others.

When an individual is heterozygous for a particular characteristic, it frequently happens that he shows the effect associated with only one of the gene varieties. If he possesses both a gene for brown eyes and one for blue eyes, his eyes are just as brown as though he had carried two genes for brown eyes. The gene for brown eyes is dominant in this case while the gene for blue eyes is recessive.

Parents and Offspring

How does the fertilized ovum obtain its particular set of chromosomes in the first place?

Each adult possesses gonads in which sex cells are formed. In the male, sperm cells are formed in the testes; in the female, egg cells are formed in the ovaries.

In the formation of the sperm cells and egg cells there is a key step—meiosis—a cell division in which the chromosomes group into pairs and are then apportioned between the daughter cells, one of each pair to each cell. Such a division, unaccompanied by replication, means that in place of the usual 23 pairs of chromosomes in each other cell, each sex cell has 23 individual chromosomes, a “half-set”, so to speak.

In the process of fertilization, a sperm cell from the father enters and merges with an egg cell from the mother. The fertilized ovum that results now has a full set of 23 pairs of chromosomes, but of each pair, one comes from the father and one from the mother.

In this way, each newborn child is a true individual, with its characteristics based on a random reshuffling of chromosomes. In forming the sex cells, the chromosome pairs can separate in either fashion (a into cell 1 and b into cell 2, or vice versa). If each of 23 pairs does this randomly, nearly 10 million different combinations of chromosomes are possible in the sex cells of a single individual.

Furthermore, one can’t predict which chromosome combination in the sperm cell will end up in combination with which in the egg cell, so that by this reasoning, a single married couple could produce children with any of 100 trillion (100,000,000,000,000) possible chromosome combinations.

It is this that begins to explain the endless variety among living beings, even within a particular species.

It only begins to explain it, because there are other sources of difference, too. A chromosome is capable of exchanging pieces with its pair, producing chromosomes with a brand new pattern of gene varieties. Before such a crossover, one chromosome may have carried a gene for blue eyes and one for wavy hair, while the other chromosome may have carried a gene for brown eyes and one for straight hair. After the crossover, one would carry genes for blue eyes and straight hair, the other for brown eyes and wavy hair.

Meiosis
Interphase
Prophase
Metaphase
Anaphase
Interphase
Metaphase
Interphase
                                                                                                                                                                                                                                                                                                           

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