Mendelian inheritance

Mendelian inheritance is a type of biological inheritance that follows the laws originally proposed by Gregor Mendel in 1865 and 1866 and re-discovered in 1900. These laws were initially controversial. When Mendel's theories were integrated with the Boveri–Sutton chromosome theory of inheritance by Thomas Hunt Morgan in 1915, they became the core of classical genetics. Ronald Fisher combined these ideas with the theory of natural selection in his 1930 book The Genetical Theory of Natural Selection, putting evolution onto a mathematical footing and forming the basis for population genetics within the modern evolutionary synthesis. The principles of Mendelian inheritance were named for and first derived by Gregor Johann Mendel, a nineteenth-century Moravian monk who formulated his ideas after conducting simple hybridisation experiments with pea plants (Pisum sativum) he had planted in the garden of his monastery. Between 1856 and 1863, Mendel cultivated and tested some 5,000 pea plants. From these experiments, he induced two generalizations which later became known as Mendel's Principles of Heredity or Mendelian inheritance. He described these principles in a two-part paper, Versuche über Pflanzen-Hybriden (Experiments on Plant Hybridization), that he read to the Natural History Society of Brno on 8 February and 8 March 1865, and which was published in 1866. Mendel's conclusions were largely ignored by the vast majority. Although they were not completely unknown to biologists of the time, they were not seen as generally applicable, even by Mendel himself, who thought they only applied to certain categories of species or traits. A major block to understanding their significance was the importance attached by 19th-century biologists to the apparent blending of many inherited traits in the overall appearance of the progeny, now known to be due to multi-gene interactions, in contrast to the organ-specific binary characters studied by Mendel. In 1900, however, his work was 're-discovered' by three European scientists, Hugo de Vries, Carl Correns, and Erich von Tschermak. The exact nature of the 're-discovery' has been debated: De Vries published first on the subject, mentioning Mendel in a footnote, while Correns pointed out Mendel's priority after having read De Vries' paper and realizing that he himself did not have priority. De Vries may not have acknowledged truthfully how much of his knowledge of the laws came from his own work and how much came only after reading Mendel's paper. Later scholars have accused Von Tschermak of not truly understanding the results at all. Regardless, the 're-discovery' made Mendelism an important but controversial theory. Its most vigorous promoter in Europe was William Bateson, who coined the terms 'genetics' and 'allele' to describe many of its tenets. The model of heredity was contested by other biologists because it implied that heredity was discontinuous, in opposition to the apparently continuous variation observable for many traits. Many biologists also dismissed the theory because they were not sure it would apply to all species. However, later work by biologists and statisticians such as Ronald Fisher showed that if multiple Mendelian factors were involved in the expression of an individual trait, they could produce the diverse results observed, and thus showed that Mendelian genetics is compatible with natural selection. Thomas Hunt Morgan and his assistants later integrated Mendel's theoretical model with the chromosome theory of inheritance, in which the chromosomes of cells were thought to hold the actual hereditary material, and created what is now known as classical genetics, a highly successful foundation which eventually cemented Mendel's place in history. Mendel's findings allowed scientists such as Fisher and J.B.S. Haldane to predict the expression of traits on the basis of mathematical probabilities. An important aspect of Mendel's success can be traced to his decision to start his crosses only with plants he demonstrated were true-breeding. He only measured discrete (binary) characteristics, such as color, shape, and position of the seeds, rather than quantitatively variable characteristics. He expressed his results numerically and subjected them to statistical analysis. His method of data analysis and his large sample size gave credibility to his data. He had the foresight to follow several successive generations (F2, F3) of pea plants and record their variations. Finally, he performed 'test crosses' (backcrossing descendants of the initial hybridization to the initial true-breeding lines) to reveal the presence and proportions of recessive characters. Mendel discovered that, when he crossed purebred white flower and purple flower pea plants (the parental or P generation), the result was not a blend. Rather than being a mix of the two, the offspring (known as the F1 generation) was purple-flowered. When Mendel self-fertilized the F1 generation pea plants, he obtained a purple flower to white flower ratio in the F2 generation of 3 to 1. The results of this cross are tabulated in the Punnett square to the right. He then conceived the idea of heredity units, which he called 'factors'. Mendel found that there are alternative forms of factors—now called genes—that account for variations in inherited characteristics. For example, the gene for flower color in pea plants exists in two forms, one for purple and the other for white. The alternative 'forms' are now called alleles. For each biological trait, an organism inherits two alleles, one from each parent. These alleles may be the same or different. An organism that has two identical alleles for a gene is said to be homozygous for that gene (and is called a homozygote). An organism that has two different alleles for a gene is said be heterozygous for that gene (and is called a heterozygote). Mendel hypothesized that allele pairs separate randomly, or segregate, from each other during the production of gametes: egg and sperm. Because allele pairs separate during gamete production, a sperm or egg carries only one allele for each inherited trait. When sperm and egg unite at fertilization, each contributes its allele, restoring the paired condition in the offspring. This is called the Law of Segregation. Mendel also found that each pair of alleles segregates independently of the other pairs of alleles during gamete formation. This is known as the Law of Independent Assortment.