Heredity - How it works



Heredity and Genetics

As discussed at the beginning of the essay on genetics, the subjects of genetics and heredity are inseparable from each other, but there are so many details that it is extremely difficult to wrap one's mind around the entire concept. It is advisable, then, to break up the overall topic into more digestible bits. One way to do this is to study the biochemical foundations of genetics as a subject in itself, as is done in Genetics, and then to investigate the impact of genetic characteristics on inheritance in a separate context, as we do here.

Also included in the present essay is a brief history of genetic study, which reveals something about the way in which these many highly complex ideas fit together. Many brilliant minds have contributed to the modern understanding of genetics and heredity; unfortunately, within the present context, space permits the opportunity to discuss only a few key figures. The first—a man whose importance in the study of genetics is comparable to that of Charles Darwin (1809-1882) in the realm of evolutionary studies—was the Austrian monk and botanist Gregor Mendel (1822-1884).

GENES.

For thousands of years, people have had a general understanding of genetic inheritance—that certain traits can be, and sometimes are, passed along from one generation to the next—but this knowledge was primarily anecdotal and derived from casual observation rather than from scientific study. The first major scientific breakthrough in this area came in 1866, when Mendel published the results of a study on the hybridization of plants in which he crossed pea plants of the same species that differed in only one trait.

Mendel bred these plants over the course of several successive generations and observed the characteristics of each individual. He found that certain traits appeared in regular patterns, and from these observations he deduced that the plants inherited specific biological units from each parent. These units, which he called factors, today are known as genes, or units of information about a particular heritable trait. From his findings, Mendel formed a distinction between genotype and phenotype that is still applied by scientists studying genetics. Genotype may be defined as the sum of all genetic input to a particular individual or group, while phenotype is the actual observable properties of that organism. We return to the subjects of genotype and phenotype later in this essay.

MUTATION AND DNA.

Although Mendel's theories were revolutionary, the scientific establishment of his time treated these new ideas with disinterest, and Mendel died in obscurity. Then, in 1900, the Dutch botanist Hugo De Vries (1848-1935) discovered Mendel's writings, became convinced that his predecessor had made an important discovery, and proceeded to take Mendel's theories much further. Unlike the Austrian monk, De Vries believed that genetic changes occur in big jumps rather than arising from gradual or transitional steps. In 1901 he gave a name to these big jumps: mutations. Today a mutation is defined as an alteration of a gene, which contains something neither De Vries nor Mendel understood: deoxyribonucleic acid, or DNA.

Actually, DNA, a molecule that contains genetic codes for inheritance, had been discovered just four years after Mendel presented his theory of factors. In 1869 the Swiss biochemist Johann Friedrich Miescher (1844-1895) isolated a substance from the remnants of cells in pus. The substance, which contained both nitrogen and phosphorus, separated into a protein and an acid molecule and came to be known as nucleic acid. A year later he discovered DNA itself in the nucleic acid, but more than 70 years would pass before a scientist discerned its purpose.

THE DISCOVERY OF CHROMOSOMES.

In the meantime, another major step in the history of genetics was taken just two years after De Vries outlined his mutation theory. In 1903 the American surgeon and geneticist Walter S. Sutton (1877-1916) discovered chromosomes, threadlike structures that split and then pair off as a cell divides in sexual reproduction. Today we know that chromosomes contain DNA and hold most of the genes in an organism, but that knowledge still lay in the future at the time of Sutton's discovery.

In 1910 the American geneticist Thomas Hunt Morgan (1866-1945) confirmed the relationship between chromosomes and heredity through experiments with fruit flies. He also discovered a unique pair of chromosomes called the sex chromosomes, which determine the sex of offspring. From his observation that a sex-specific chromosome was always present in flies that had white eyes, Morgan deduced that specific genes reside on chromosomes. A later discovery showed that chromosomes could mutate, or change structurally, resulting in a change of characteristics that could be passed on to the next generation.

DNA MAKES ITS APPEARANCE.

All this time, scientists knew about the existence of DNA without guessing its function. Then, in the 1940s, a research team consisting of the Canadian-born American bacteriologist Oswald Avery (1877-1955), the American bacteriologist Maclyn McCarty (1911-), and the Canadian-born American microbiologist Colin Munro MacLeod (1909-1972) discovered the blueprint function of DNA. By taking DNA from one type of bacteria and inserting it into another, they found that the second form of bacteria took on certain traits of the first.

The final proof that DNA was the specific molecule that carries genetic information came in 1952, when the American microbiologists Alfred Hershey (1908-1997) and Martha Chase (1927-) showed that transferring DNA from a virus to an animal organ resulted in an infection, just as if an entire virus had been inserted. But perhaps the most famous DNA discovery occurred a year later, when the American biochemist James D. Watson (1928-) and the English biochemist Francis Crick (1916-) solved the mystery of the exact structure of DNA. Their goal was to develop a DNA model that would explain the blueprint, or language, by which the molecule provides necessary instructions at critical moments in the course of cell division and growth. To this end, Watson and Crick focused on the relationships between the known chemical groups that compose DNA. This led them to propose a double helix, or spiral staircase, model, which linked the chemical bases in definite pairs. Using this twisted-ladder model, they were able to explain how the DNA molecule could duplicate itself, since each side of the ladder contains a compound that fits with a compound on the opposite side. If separated, each would serve as the template for the formation of its mirror image.

Autosomes and Sex Chromosomes

Genetic information is organized into chromosomes in the nucleus, or control center, of the cell. Human cells have 46 chromosomes each, except for germ, or reproductive, cells (i.e., sperm cells in males and egg cells in females), which each have 23 chromosomes. Each person receives 23 chromosomes from the mother's egg and 23 chromosomes from the father's sperm. Of these 23 chromosomes, 22 are called autosomes, or

IF TWO GROUPS OF THE SAME SPECIES ARE SEPARATED FOR A LONG TIME, GENETIC DRIFT MAY LEAD TO THE FORMATION OF DISTINCT SPECIES, AS WHEN THE COLORADO RIVER CUT OPEN THE GRAND CANYON AND ISOLATED THE KAIBAB SQUIRREL OF THE NORTH RIM FROM THE ABERT SQUIRREL (SHOWN HERE) OF THE SOUTH. (©W. Perry Conway/Corbis. Reproduced by permission.)
I F TWO GROUPS OF THE SAME SPECIES ARE SEPARATED FOR A LONG TIME , GENETIC DRIFT MAY LEAD TO THE FORMATION OF DISTINCT SPECIES , AS WHEN THE C OLORADO R IVER CUT OPEN THE G RAND C ANYON AND ISOLATED THE K AIBAB SQUIRREL OF THE NORTH RIM FROM THE A BERT SQUIRREL ( SHOWN HERE ) OF THE SOUTH . (
©W. Perry Conway/Corbis
. Reproduced by permission. )
non-sex chromosomes, meaning that they do not determine gender. The remaining chromosome, the sex chromosome, is either an X or a Y. Females have two Xs (XX), and males have one of each (XY), meaning that females can pass only an X to their offspring, whereas males can pass either an X or a Y. (This, in turn, means that the sperm of the father determines the gender of the offspring.)

Alleles

The 44 autosomes have parallel coded information on each of the two sets of 22 autosomes, and this coding is organized into genes, which provide instructions for the synthesis (manufacture) of specific proteins. Each gene has a set locus, or position, on a particular chromosome, and for each locus, there are two slightly different forms of a gene. These differing forms, known as alleles, each represent slightly different codes for the same trait. One allele, for instance, might say "attached earlobe," meaning that the bottom of the lobe is fully attached to the side of the head and cannot be flapped. Another allele, however, might say "unattached earlobe," indicating a lobe that is not fully attached and therefore can be flapped.

DOMINANT AND RECESSIVE ALLELES.

Each person has two alleles of the same gene—the genotype for a single locus. These can be written as uppercase or lowercase letters of the alphabet, with capital letters defining dominant traits and lowercase letters indicating recessive traits. A dominant trait is one that can manifest in the offspring when inherited from only one parent, whereas a recessive trait must be inherited from both parents in order to manifest. For instance, brown eyes are dominant and thus would be represented in shorthand with a capital B, whereas blue eyes, which are recessive, would be represented with a lowercase b. Genotypes are either homozygous (having two identical alleles, such as BB or bb) or heterozygous (having different alleles, such as Bb). The phenotype, however—that is, the actual eye color—must be one or the other, because both sets of genes cannot be expressed together.

Unless there is some highly unusual mutation, a child will not have one brown eye and one blue eye; instead, the dominant trait will overpower the recessive one and determine the eye color of the child. If an individual's genotype is BB or Bb, that person definitely will have brown eyes; the only way for the individual to have blue eyes is if the genotype is bb—meaning that both parents have blue eyes. Oddly, two parents with brown eyes could produce a child with blue eyes. How is that possible? Suppose both the mother and the father had the heterozygous alleles Bb—a dominant brown and a recessive blue. There is then a 25% chance that the child could inherit both parents' recessive genes, for a bb genotype—and a blue-eyed phenotype.

LEARNING FROM HEREDITARY LAW.

What we have just described is called genetic dominance, or the ability of a single allele to control phenotype. This principle of classical Mendelian genetics does not explain everything. For example, where height is concerned, there is not necessarily a dominant or recessive trait; rather, offspring typically have a height between that of the parents, because height also is determined by such factors as diet. (Also, more than one pair of genes is involved.) Hereditary law does, however, help us predict everything from hair and eye color to genetic disorders. As with the blue-eyed child of brown-eyed parents, it is possible that neither parent will show signs of a genetic disorder and yet pass on a double-recessive combination to their children. Again, however, other factors—including genetic ones—may come into play. For example, Down syndrome (discussed in Mutation) is caused by abnormalities in the number of chromosomes, with the offspring possessing 47 chromosomes instead of the normal 46.



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