Gregor Mendel's principles of inheritance form the cornerstone of modern genetics. So just what are they?
Ever wonder why you are the only one in your family with your grandfather's nose? The way in which traits are passed from one generation to the next-and sometimes skip generations-was first explained by Gregor Mendel. By experimenting with pea plant breeding, Mendel developed three principles of inheritance that described the transmission of genetic traits, before anyone knew genes existed. Mendel's insight greatly expanded the understanding of genetic inheritance, and led to the development of new experimental methods.
in the diagram. Square and circle symbols represent male and female family members, respectively. Open symbols represent unaffected members. Red symbols represent members with Waardenburg syndrome. A horizontal line connects two individuals that form a mating pair. A vertical line connects the mating pair to their offspring in the next generation. Individuals in a generation are identified by Arabic numerals; number 1 is assigned to the leftmost individual within each generation, and individuals in each immediate family unit are listed left to right in birth order. There are two individuals in generation 1, one of which is affected with Waardenburg syndrome. There are five individuals in generation 2, two of which are affected with Waardenburg syndrome. There are 15 total individuals, four of which are affected by Waardenburg syndrome, in each of generations 3 and 4." />
Traits are passed down in families in different patterns. Pedigrees can illustrate these patterns by following the history of specific characteristics, or phenotypes, as they appear in a family. For example, the pedigree in Figure 1 shows a family in which a grandmother (generation I) has passed down a characteristic (shown in solid red) through the family tree. The inheritance pattern of this characteristic is considered dominant , because it is observable in every generation. Thus, every individual who carries the genetic code for this characteristic will show evidence of the characteristic. In contrast, Figure 2 shows a different pattern of inheritance, in which a characteristic disappears in one generation, only to reappear in a subsequent one. This pattern of inheritance, in which the parents do not show the phenotype but some of the children do, is considered recessive . But where did our knowledge of dominance and recessivity first come from?
Our modern understanding of how traits may be inherited through generations comes from the principles proposed by Gregor Mendel in 1865. However, Mendel didn't discover these foundational principles of inheritance by studying human beings, but rather by studying Pisum sativum, or the common pea plant. Indeed, after eight years of tedious experiments with these plants, and—by his own admission—"some courage" to persist with them, Mendel proposed three foundational principles of inheritance. These principles eventually assisted clinicians in human disease research; for example, within just a couple of years of the rediscovery of Mendel's work, Archibald Garrod applied Mendel's principles to his study of alkaptonuria . Today, whether you are talking about pea plants or human beings, genetic traits that follow the rules of inheritance that Mendel proposed are called Mendelian.
Mendel was curious about how traits were transferred from one generation to the next, so he set out to understand the principles of heredity in the mid-1860s. Peas were a good model system, because he could easily control their fertilization by transferring pollen with a small paintbrush. This pollen could come from the same flower (self-fertilization), or it could come from another plant's flowers (cross-fertilization). First, Mendel observed plant forms and their offspring for two years as they self-fertilized, or "selfed," and ensured that their outward, measurable characteristics remained constant in each generation. During this time, Mendel observed seven different characteristics in the pea plants, and each of these characteristics had two forms (Figure 3). The characteristics included height (tall or short), pod shape (inflated or constricted), seed shape (smooth or winkled), pea color (green or yellow), and so on. In the years Mendel spent letting the plants self, he verified the purity of his plants by confirming, for example, that tall plants had only tall children and grandchildren and so forth. Because the seven pea plant characteristics tracked by Mendel were consistent in generation after generation of self-fertilization, these parental lines of peas could be considered pure-breeders (or, in modern terminology, homozygous for the traits of interest). Mendel and his assistants eventually developed 22 varieties of pea plants with combinations of these consistent characteristics.
Mendel not only crossed pure-breeding parents, but he also crossed hybrid generations and crossed the hybrid progeny back to both parental lines. These crosses (which, in modern terminology, are referred to as F1, F1 reciprocal, F2, B1, and B2) are the classic crosses to generate genetically hybrid generations.
