Keywords: georg mendel
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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.
When conducting his experiments, Mendel designated the two pure-breeding parental generations involved in a particular cross as P 1 and P 2. and he then denoted the progeny resulting from the crossing as the filial, or F 1. generation. Although the plants of the F 1 generation looked like one parent of the P generation, they were actually hybrids of two different parent plants. Upon observing the uniformity of the F 1 generation, Mendel wondered whether the F 1 generation could still possess the nondominant traits of the other parent in some hidden way.
To understand whether traits were hidden in the F 1 generation, Mendel returned to the method of self-fertilization. Here, he created an F 2 generation by letting an F 1 pea plant self-fertilize (F 1 x F 1 ). This way, he knew he was crossing two plants of the exact same genotype. This technique, which involves looking at a single trait, is today called a monohybrid cross. The resulting F 2 generation had seeds that were either round or wrinkled. Figure 4 shows an example of Mendel's data.
When looking at the figure, notice that for each F 1 plant, the self-fertilization resulted in more round than wrinkled seeds among the F 2 progeny. These results illustrate several important aspects of scientific data:
- Multiple trials are necessary to see patterns in experimental data.
- There is a lot of variation in the measurements of one experiment.
- A large sample size, or "N," is required to make any quantitative comparisons or conclusions.
In Figure 4, the result of Experiment 1 shows that the single characteristic of seed shape was expressed in two different forms in the F 2 generation: either round or wrinkled. Also, when Mendel averaged the relative proportion of round and wrinkled seeds across all F 2 progeny sets, he found that round was consistently three times more frequent than wrinkled. This 3:1 proportion resulting from F 1 x F 1 crosses suggested there was a hidden recessive form of the trait. Mendel recognized that this recessive trait was carried down to the F 2 generation from the earlier P generation.