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.
Regardless, the "re-discovery" made Mendelism an important but controversial theory.
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.
He then conceived the idea of heredity units, which he called "factors".
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.
The genotype of an individual is made up of the many alleles it possesses. An individual's physical appearance, or phenotype, is determined by its alleles as well as by its environment. The presence of an allele does not mean that the trait will be expressed in the individual that possesses it. If the two alleles of an inherited pair differ (the heterozygous condition), then one determines the organism’s appearance and is called the dominant allele; the other has no noticeable effect on the organism’s appearance and is called the recessive allele. Thus, in the example above the dominant purple flower allele will hide the phenotypic effects of the recessive white flower allele. This is known as the Law of Dominance but it is not a transmission law: it concerns the expression of the genotype. The upper case letters are used to represent dominant alleles whereas the lowercase letters are used to represent recessive alleles.
In the pea plant example above, the capital "B" represents the dominant allele for purple flowers and lowercase "b" represents the recessive allele for white flowers.
The Law of Segregation states that every individual organism contains two alleles for each trait, and that these alleles segregate (separate) during meiosis such that each gamete contains only one of the alleles. An offspring thus receives a pair of alleles for a trait by inheriting homologous chromosomes from the parent organisms: one allele for each trait from each parent.
Molecular proof of this principle was subsequently found through observation of meiosis by two scientists independently, the German botanist Oscar Hertwig in 1876, and the Belgian zoologist Edouard Van Beneden in 1883. Paternal and maternal chromosomes get separated in meiosis and the alleles with the traits of a character are segregated into two different gametes. Each parent contributes a single gamete, and thus a single, randomly successful allele copy to their offspring and fertilization.
The Law of Independent Assortment states that alleles for separate traits are passed independently of one another. That is, the biological selection of an allele for one trait has nothing to do with the selection of an allele for any other trait.
Independent assortment occurs in eukaryotic organisms during meiotic metaphase I, and produces a gamete with a mixture of the organism's chromosomes. The physical basis of the independent assortment of chromosomes is the random orientation of each bivalent chromosome along the metaphase plate with respect to the other bivalent chromosomes. Along with crossing over, independent assortment increases genetic diversity by producing novel genetic combinations.
There are many violations of independent assortment due to genetic linkage.
Of the 46 chromosomes in a normal diploid human cell, half are maternally derived (from the mother's egg) and half are paternally derived (from the father's sperm). This occurs as sexual reproduction involves the fusion of two haploid gametes (the egg and sperm) to produce a new organism having the full complement of chromosomes. During gametogenesis—the production of new gametes by an adult—the normal complement of 46 chromosomes needs to be halved to 23 to ensure that the resulting haploid gamete can join with another gamete to produce a diploid organism. An error in the number of chromosomes, such as those caused by a diploid gamete joining with a haploid gamete, is termed aneuploidy.
In independent assortment, the chromosomes that result are randomly sorted from all possible maternal and paternal chromosomes.
Mendel's Law of Dominance states that recessive alleles will always be masked by dominant alleles.
A Mendelian trait is one that is controlled by a single locus in an inheritance pattern. In such cases, a mutation in a single gene can cause a disease that is inherited according to Mendel's laws. Examples include sickle-cell anemia, Tay–Sachs disease, cystic fibrosis and xeroderma pigmentosa. A disease controlled by a single gene contrasts with a multi-factorial disease, like heart disease, which is affected by several loci (and the environment) as well as those diseases inherited in a non-Mendelian fashion.
Mendel explained inheritance in terms of discrete factors—genes—that are passed along from generation to generation according to the rules of probability.
The F1 offspring of Mendel's pea crosses always looked like one of the two parental varieties.
A similar situation arises fromcodominance, in which the phenotypes produced by both alleles are clearly expressed.
In Mendelian inheritance, genes have only two alleles, such as a and A. In nature, such genes exist in several different forms and are therefore said to havemultiple alleles. A gene with more than two alleles is said to have multiple alleles. An individual, of course, usually has only two copies of each gene, but many different alleles are often found within a population. One of the best-known examples is coat color in rabbits. A rabbit's coat color is determined by a single gene that has at least four different alleles. The four known alleles display a pattern of simple dominance that can produce four coat colors. Many other genes have multiple alleles, including the human genes for ABO blood type.
Furthermore, many traits are produced by the interaction of several genes.