We know that man started breeding domestic animals from early times, probably before the invention of agriculture. We do not know when heredity was first appreciated as a scientific problem. The Greeks, and most obviously Aristotle, studied living things, and proposed ideas about reproduction and heredity.
Probably the most important idea before Mendel was that of Charles Darwin, whose idea of "pangenesis" had two parts. The first, that persistent hereditary units were passed on from one generation to another, was quite right. The second was his idea that they were replenished by 'gemmules' from the somatic (body) tissues. This was entirely wrong, and plays no part in science today. Darwin was right about one thing: whatever happens in evolution must happen by means of heredity, and so an accurate science of genetics is fundamental to the theory of evolution. This 'mating' between genetics and evolution took many years to organise. It resulted in the modern evolutionary synthesis.
The basic rules of genetics were first discovered by a monk named Gregor Mendel in around 1865. For thousands of years, people had already studied how traits are inherited from parents to their children. However, Mendel's work was different because he designed his experiments very carefully.
In his experiments, Mendel studied how traits were passed on in pea plants. He started his crosses with plants that bred true, and counted characters that were either/or in nature (either "tall" or "short"). He bred large numbers of plants, and expressed his results numerically. He used test crosses to reveal the presence and proportion of recessive characters.
Mendel explained the results of his experiment using two scientific laws:
Mendel's laws helped explain the results he observed in his pea plants. Later, geneticists discovered that his laws were also true for other living things, even humans. Mendel's findings from his work on the garden pea plants helped to establish the field of genetics. His contributions were not limited to the basic rules that he discovered. Mendel's care towards controlling experiment conditions along with his attention to his numerical results set a standard for future experiments. Over the years, scientists have changed and improved Mendel's ideas. However, the science of genetics would not be possible today without the early work of Gregor Mendel.
In the years between Mendel's work and 1900 the foundations of cytology, the study of cells, was developed. The facts discovered about the nucleus and cell division were essential for Mendel's work to be properly understood.
At this point, discoveries in cytology merged with the rediscovered ideas of Mendel to make a fusion called cytogenetics, (cyto = cell; genetics = heredity) which has continued to the present day.
During the 1890s several biologists began doing experiments on breeding. and soon Mendel's results were duplicated, even before his papers were read. Carl Correns and Hugo de Vries were the main rediscoverers of Mendel's writings and laws. Both acknowledged Mendel's priority, although it is probable that de Vries did not understand his own results until after reading Mendel. Though Erich von Tschermak was originally also credited with rediscovery, this is no longer accepted because he did not understand Mendel's laws. Though de Vries later lost interest in Mendelism, other biologists built genetics into a science.
Mendel's results were replicated, and genetic linkage soon worked out. William Bateson perhaps did the most in the early days to publicise Mendel's theory. The word "genetics", and other terminology, originated with Bateson.
Mendel's experimental results have later been the object of some debate. Fisher analyzed the results of the F2 (second filial) ratio and found them to be implausibly close to the exact ratio of 3 to 1. It is sometimes suggested that Mendel may have censored his results, and that his seven traits each occur on a separate chromosome pair, an extremely unlikely occurrence if they were chosen at random. In fact, the genes Mendel studied occurred in only four linkage groups, and only one gene pair (out of 21 possible) is close enough to show deviation from independent assortment; this is not a pair that Mendel studied.
During the process of DNA replication, errors sometimes occur. These errors, called mutations, can have an effect on the phenotype of an organism. In turn, that usually has an effect on the organism's fitness, its ability to live and reproduce successfully.
Error rates are usually very low—1 error in every 10–100 million bases—due to the "proofreading" ability of DNA polymerases. Error rates are a thousandfold higher in many viruses. Because they rely on DNA and RNA polymerases which lack proofreading ability, they get higher mutation rates.
Processes that increase the rate of changes in DNA are called mutagenic. Mutagenic chemicals increase errors in DNA replication, often by interfering with the structure of base-pairing, while UV radiation induces mutations by causing damage to the DNA structure. Chemical damage to DNA occurs naturally as well, and cells use DNA repair mechanisms to repair mismatches and breaks in DNA—nevertheless, the repair sometimes fails to return the DNA to its original sequence.
In organisms which use chromosomal crossovers to exchange DNA and recombine genes, errors in alignment during meiosis can also cause mutations. Errors in crossover are especially likely when similar sequences cause partner chromosomes to adopt a mistaken alignment; this makes some regions in genomes more prone to mutating in this way. These errors create large structural changes in DNA sequence—duplications, inversions or deletions of entire regions, or the accidental exchanging of whole parts between different chromosomes (called translocation).
Developed by Reginald Punnett, Punnett squares are used by biologists to determine the probability of offspring having a particular genotype.
If B represents the allele for having black hair and b represents the allele for having white hair, the offspring of two Bb parents would have a 25% probability of having two white hair alleles (bb), 50% of having one of each (Bb), and 25% of having only black hair alleles (BB).
Geneticists (biologists who study genetics) use pedigree charts to record traits of people in a family. Using these charts, geneticists can study how a trait is inherited from person to person.
Geneticists can also use pedigree charts to predict how traits will be passed to future children in a family. For instance, genetic counselors are professionals who work with families who might be affected by genetic diseases. As part of their job, they create pedigree charts for the family, which can be used to study how the disease might be inherited.
Since human beings are not bred experimentally, human genetics must be studied by other means. One recent way is by studying the human genome. Another way, older by many years, is to study twins.
Identical twins are natural clones. They carry the same genes, they may be used to investigate how much heredity contributes to individual people. Studies with twins have been quite interesting. If we make a list of characteristic traits, we find that they vary in how much they owe to heredity. For example:
The way the studies are done is like this. Take a group of identical twins and a group of fraternal twins. Measure them for various traits. Do a statistical analysis (such as analysis of variance). This tells you to what extent the trait is inherited. Those traits which are partly inherited will be significantly more similar in identical twins. Studies like this may be carried further, by comparing identical twins brought up together with identical twins brought up in different circumstances. That gives a handle on how much circumstances can alter the outcomes of genetically identical people.