Mendelian

inheritance

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Gregor Mendel, the Moravian Augustinian monk who

founded the modern science of genetics
Mendelian inheritance is a type of
biological inheritance that follows the
principles originally proposed by Gregor
Mendel in 1865 and 1866, re-discovered in
1900 and popularised by William
Bateson.[1] These principles 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.[2]

History
The principles of Mendelian inheritance
were named for and first derived by Gregor
Johann Mendel,[3] 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.[4] 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 his experiments in a two-part
paper, Versuche über Pflanzen-Hybriden
(Experiments on Plant Hybridization)[5],
that he presented to the Natural History
Society of Brno on 8 February and 8 March
1865, and which was published in
1866.[6][7][8][9]

Mendel's results 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.[4] 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.[4][10][11][12]

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 (P, F1, 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's genetic discoveries

Five parts of Mendel's discoveries were an
important divergence from the common
theories at the time and were the
prerequisite for the establishment of his
rules.

1. Characters are unitary. That is, they

are discrete (purple vs. white, tall vs.
dwarf).
2. Genetic characteristics have alternate
forms, each inherited from one of two
parents. Today, we call these alleles.
 3. One allele is dominant over the other.
The phenotype reflects the dominant
allele.
4. Gametes are created by random
segregation. Heterozygotic
individuals produce gametes with an
equal frequency of the two alleles.
5. Different traits have independent
assortment. In modern terms, genes
are unlinked.

According to customary terminology we

refer here to the principles of inheritance
discovered by Gregor Mendel as
Mendelian laws, although today's
geneticists also speak of Mendelian rules
or Mendelian principles,[13][14] as there are
many exceptions summarized under the
collective term Non-Mendelian inheritance.

Characteristics Mendel used in his experiments[15]

P-Generation and F1-Generation: The dominant allele

for purple-red flower hides the phenotypic effect of
the recessive allele for white flowers. F2-Generation:
The recessive trait from the P-Generation
phenotypically reappears in the individuals that are
homozygous with the recessiv genetic trait.
Myosotis: Colour and distribution of colours are
inherited independently.[16]

Mendel selected for experiment relate the

following characters of pea plants:

Form of the ripe seeds round or

roundish, surface shallow or wrinkled
Colour of the seed–coat white, gray,
brown with or without violet spotting
 Colour of the seeds and cotyledons
yellow or green
Flower colour
Form of the ripe pods simply inflated,
not contracted or constricted between
the seeds and wrinkled
Colour of the unripe pods yellow or
green
Position of the flowers axial or terminal
Length of the stem [17]

When he crossed purebred white flower

and purple flower pea plants (the parental
or P generation) by artificial pollination, the
resulting flower colour was not a blend.
Rather than being a mix of the two, the
offspring in the first generation (F1-
generation) were all purple flowered.
Therefore he called this biological trait
dominant. When he allowed self-
fertilization in the uniform looking F1-
generation, he obtained both colours in the
F2 generation with a purple flower to white
flower ratio of 3 : 1. In some of the other
characters also one of the traits was
dominant.

He then conceived the idea of heredity

units, which he called heriditary "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 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 the
gametes in the seed plant (egg cell) and
the pollen plant (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. Mendel also found that each
pair of alleles segregates independently of
the other pairs of alleles during gamete
formation.
The genotype of an individual is made up
of the many alleles it possesses. The
phenotype is the result of the expression
of all characteristics that are genetically
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.
Mendel's laws of inheritance
Law Definition

Law of
Some alleles are dominant while others are recessive; an organism with at
dominance and
least one dominant allele will display the effect of the dominant allele.[18]
uniformity

Law of During gamete formation, the alleles for each gene segregate from each
segregation other so that each gamete carries only one allele for each gene.

Law of
Genes of different traits can segregate independently during the formation of
independent
gametes.
assortment

Law of Dominance and Uniformity

F1 generation: All individuals have the same

genotype and same phenotype expressing the
dominant trait (red).
F2 generation: The phenotypes in the second
generation show a 3 : 1 ratio.
In the genotype 25 % are homozygous with the
In the genotype 25 % are homozygous with the
dominant trait, 50 % are heterozygous genetic
carriers of the recessive trait, 25 % are homozygous
with the recessive genetic trait and expressing the
recessive charakter.

In Mirabilis jalapa and Antirrhinum majus are

examples for intermediate inheritance.[19][20] As seen
in the F1-generation, heterozygous plants have "light
pink" flowers—a mix of "red" and "white". The F2-
generation shows a 1:2:1 ratio of red : light pink :
white
If two parents are mated with each other
who differ in one genetic characteristic for
which they are both homozygous (each
pure-bred), all offspring in the first
generation (F1) are equal to the examined
characteristic in genotype and phenotype
showing the dominant trait. This
uniformity rule or reciprocity rule applies to
all individuals of the F1-generation.[21]

The dominant inheritance discovered by

Mendel states that in a heterozygote the
recessive allele will be masked in the
phenotype by the dominant allele. Only if
the individual owns the recessive allele
homozygous the recessive trait gets
expressed. Therefore, a cross between a
homozygous dominant and a homozygous
recessive will always show the dominant
trait in the phenotype, while still having a
heterozygous genotype.

The F1 offspring of Mendel's pea crosses

always looked like one of the two parental
varieties. In this situation of "complete
dominance," the dominant allele had the
same phenotypic effect whether present in
one or two copies.

But for some characteristics, the F1

hybrids have an appearance in between
the phenotypes of the two parental
varieties. A cross between two four o'clock
(Mirabilis jalapa) plants shows an
exception to Mendel's principle, called
incomplete dominance. Flowers of
heterozygous plants have less pigment
than the homozygous, therefore there is a
third phenotype. The phenotype lies
somewhere between the two homozygous
genotype. In cases of intermediate
inheritance (incomplete dominance) in the
F1-generation Mendel's principle of
uniformity in genotype and phänotype
applies as well. Research about
intermediate inheritance was done by
other scientists. The first was Carl Correns
with his studies about Mirabilis
jalapa.[22][23][24][25][26]

Law of Segregation of genes

A Punnett square for one of Mendel's pea plant

experiments – self-fertilization of the F1 generation

The Law of Segregation of genes applies

when two individuals, both heterozygous
for a certain trait are crossed, for example
hybrids of the F1-generation. The offspring
in the F2-generation differ in genotype and
phenotype, so that the characteristics of
the grandparents (P-generation) regularly
occur again. In a dominant-recessive
inheritance an average of 25 % are
homozygous with the dominant trait, 50 %
are heterozygous showing the dominant
trait in the phenotype (genetic carriers),
25 % are homozygous with the recessive
trait and therefore express the recessive
trait in the phenotype. The genotypic ratio
is 1 : 2 : 1, the phenotypic ratio is 3 : 1.

In the pea plant example, the capital "B"

represents the dominant allele for purple
blossom and lowercase "b" represents the
recessive allele for white blossom. The
pistil plant and the pollen plant are both
F1-hybrids with genotype "B b". Each has
one allele for purple and one allele for
white. In the offspring, in the F2-plants in
the Punnett-square, three combinations
are possible. The genotypic ratio is 1 BB :
2 Bb : 1 bb. But the phenotypic ratio of
plants with purple blossoms to those with
white blossoms is 3 : 1 due to the
dominance of the allele for purple. Plants
with homozygous "b b" are white flowered
like one of the grandparents in the P-
generation.
In cases of incomplete dominance the
same segregation of alleles takes place in
the F2-generation, but here also the
phenotypes show a ratio of 1 : 2 : 1, as the
heterozygous are different in phenotype
from the homozygous because the genetic
expression of one allele compensates the
missing expression of the other allele only
partially. This results in an intermediate
inheritance which was later described by
other scientists.

In some literature sources the principle of

segregation is cited as "first law".
Nevertheless, Mendel did his crossing
experiments with heterozygous plants
after obtaining these hybrids by crossing
two purebred plants, discovering the
principle of dominance and uniformity at
first.[27][28]

Molecular proof of segregation of genes

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. Most
alleles are located in chromosomes in the
cell nucleus. Paternal and maternal
chromosomes get separated in meiosis,
because during spermatogenesis the
chromosomes are segregated on the four
sperm cells that arise from one mother
sperm cell, and during oogenesis the
chromosomes are distributed between the
polar bodys and the egg cell. Every
individual organism contains two alleles
for each trait. They segregate (separate)
during meiosis such that each gamete
contains only one of the alleles.[29] When
the gametes unite in the zygote the alleles
- one from the mother one from the father -
get passed on to the offspring. 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.[29] Heterozygous individuals with
the dominant trait in the phenotype are
genetic carriers of the recessive trait.

Law of Independent Assortment

Segregation and independent assortment are

consistent with the chromosome theory of
inheritance.
When the parents are homozygous for two different
genetic traits (llSS and LL sP sP), their children in the
F1 generation are heterozygous at both loci and only
show the dominant phenotypes (Ll S sP). P-
Generation: Each parent possesses one dominant
and one recessive trait purebred (homozygous). In
this example, solid coat color is indicated by S
(dominant), Piebald spotting by sP (recessive), while
fur length is indicated by L (short, dominant) or l
(long, recessive). All individuals are equal in
genotype and phenotype. In the F2 generation all
combinations of coat color and fur length occur: 9
are short haired with solid colour, 3 are short haired
with spotting, 3 are long haired with solid colour and
1 is long haired with spotting. The traits are inherited
independently, so that new combinations can occur.
Average number ratio of phenotypes 9:3:3:1[30]

For example 3 pairs of homologous chromosomes

allow 8 possible combinations, all equally likely to
move into the gamete during meiosis. This is the
main reason for independent assortment. The
equation to determine the number of possible
combinations given the number of homologous
pairs = 2x (x = number of homologous pairs)

The Law of Independent Assortment

states that alleles for separate traits are
passed independently of one another.[31]
[32][33] 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.
Mendel found support for this law in his
dihybrid cross experiments. In his
monohybrid crosses, an idealized 3:1 ratio
between dominant and recessive
phenotypes resulted. In dihybrid crosses,
however, he found a 9:3:3:1 ratios. This
shows that each of the two alleles is
inherited independently from the other,
with a 3:1 phenotypic ratio for each.

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 deviations from the

principle 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 zygote and a new organsim, in
which every cell has two sets of
chromosomes (diploid). During
gametogenesis the normal complement of
46 chromosomes needs to be halved to 23
to ensure that the resulting haploid
gamete can join with another haploid
gamete to produce a diploid organism.

In independent assortment, the

chromosomes that result are randomly
sorted from all possible maternal and
paternal chromosomes. Because zygotes
end up with a mix instead of a pre-defined
"set" from either parent, chromosomes are
therefore considered assorted
independently. As such, the zygote can
end up with any combination of paternal or
maternal chromosomes. For human
gametes, with 23 chromosomes, the
number of possibilities is 223 or 8,388,608
possible combinations.[34] This
contributes to the genetic variability of
progeny. Generally the recombination of
genes has important implications for
many evolutionary processes.[35][36][37]

Mendelian trait
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 principles.
Dominant diseases manifest in
heterozygous individuals. Recessive ones
are sometimes inherited unnoticeably by
genetic carriers. 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.[38]

Non-Mendelian inheritance
After Mendels studies and discoveries
more and more new discoveries about
genetics were made. Mendel himself has
said that the regularities he discovered
apply only to the organisms and
characteristics he consciously chose for
his experiments. Mendel explained
inheritance in terms of discrete factors —
genes— that are passed along from
generation to generation according to the
rules of probability. Mendel's laws are valid
for all sexually reproducing organisms,
including garden peas and human beings.
However, Mendel's laws stop short of
explaining some patterns of genetic
inheritance. For most sexually reproducing
organisms, cases where Mendel's laws
can strictly account for all patterns of
inheritance are relatively rare. Often the
inheritance patterns are more
complex.[39][40]

In cases of codominance the phenotypes

produced by both alleles are clearly
expressed. Mendel chose genetic traits in
plants that are determined by only two
alleles, such as "A" and "a". In nature,
genes often exist in several different forms
with multiple alleles. Furthermore, many
traits are produced by the interaction of
several genes. Traits controlled by two or
more genes are said to be polygenic traits.

See also
List of Mendelian traits in humans
Mendelian diseases (monogenic
disease)
Mendelian error
Particulate inheritance
Punnett square

References
1. William Bateson: Mendel's Principles
of Heredity - A Defence, with a
Translation of Mendel's Original
Papers on Hybridisation Cambridge
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108-00613-2
2. Grafen, Alan; Ridley, Mark (2006).
Richard Dawkins: How A Scientist
Changed the Way We Think . New
York, New York: Oxford University
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3. Ilona Miko: Gregor Mendel and the
Principles of Inheritance Nature
Education 2008
4. Henig, Robin Marantz (2009). The
Monk in the Garden : The Lost and
Found Genius of Gregor Mendel, the
Father of Modern Genetics .
Houghton Mifflin. ISBN 978-0-395-
97765-1. "The article, written by an
Austrian monk named Gregor Johann
Mendel..."
5. Gregor Mendel: Experiments in Plant
Hybridization 1965
6. National Center for Biotechnology
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Mendel (1865). "Experiments in Plant
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11. Floyd Monaghan, Alain Corcos:
Abstract: Tschermak - A non-
discoverer of Mendelism Journal of
Heredity 77: 468f (1986) und 78: 208-
210 (1987
12. Michal Simunek, Uwe Hoßfeld, Florian
Thümmler, Olaf Breidbach (Hg.): The
Mendelian Dioskuri –
Correspondence of Armin with Erich
von Tschermak-Seysenegg, 1898–
1951; „Studies in the History of
Sciences and Humanities“, Band Nr.
27; Prag 2011; ISBN 978-80-87378-
67-0.
13. Science Learning Hub: Mendel’s
principles of inheritance
14. Noel Clarke: Mendelian Genetics - An
overview
15. Gregor Mendel: Versuche über
Pflanzenhybriden Verhandlungen
des Naturforschenden Vereines in
Brünn. Bd. IV. 1866, page 8
16. Write Work: Mendel's Impact
17. Gregor Mendel: Experiments in Plant
Hybridization 1965, page 5
18. Rutgers: Mendelian Principles
19. Biology University of Hamburg:
Mendelian Genetics
20. Neil A. Campbell, Jane B. Reece:
Biologie. Spektrum-Verlag
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1352-4, page 302-303.
21. Ulrich Weber: Biologie Gesamtband
Oberstufe, 1st edition, Cornelsen
Verlag Berlin 2001, ISBN 3-464-
04279-0, page 170 - 171.
22. Biology University of Hamburg:
Mendelian Genetics
23. Biologie Schule - kompaktes Wissen:
Uniformitätsregel (1. Mendelsche
Regel)
24. Frustfrei Lernen: Uniformitätsregel (1.
Mendelsche Regel)
25. Spektrum Biologie: Unvollständige
Dominanz
26. Spektrum Biologie: Intermediärer
Erbgang
27. Neil A. Campbell, Jane B. Reece:
Biologie. Spektrum-Verlag 2003, page
293-315. ISBN 3-8274-1352-4
28. Rutgers: Mendelian Principles
29. Bailey, Regina (5 November 2015).
"Mendel's Law of Segregation" .
about education. About.com.
Retrieved 2 February 2016.
30. Spectrum Dictionary of Biology
Mendel Rules
31. Big Medical Encyclopedia: Mendel'
Laws - inheritance rules
32. Bailey, Regina. "Independent
Assortment" . about education.
About.com. Retrieved 24 February
2016.
33. Neil A. Campbell, Jane B. Reece:
Biologie. Spektrum-Verlag 2003, page
293-315. ISBN 3-8274-1352-4
34. Perez, Nancy. "Meiosis" . Retrieved
15 February 2007.
35. Jessica Stapley, Philine G. D. Feulner
et. al.: Recombination: the good, the
bad and the variable NCBI 2017
36. James Reeve, Daniel Ortiz-Barrientos,
Jan Engelstädter:The evolution of
recombination rates in finite
populations during ecological
speciation Proceedings of the Royal
Society B, 2016
37. Donal A.Hickeya, Brian Gold: The
advantage of recombination when
selection is acting at many genetic
Loci Elsevier Journal of Theoretical
Biology 2018
38. "Genetic Disorders" . National Human
Genome Research Institute. 18 May
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39. Joseph Schacherer: Beyond the
simplicity of Mendelian inheritance
Science Direct 2016
40. Khan Academy: Variations on
Mendel's laws (overview)

Notes
Bowler, Peter J. (1989). The Mendelian
Revolution: The Emergence of
Hereditarian Concepts in Modern
Science and Society. Johns Hopkins
University Press.
Atics, Jean. Genetics: The life of DNA.
ANDRNA press.
 Reece, Jane B.; Campbell, Neil A. (2011).
Mendel and the Gene Idea. Campbell
Biology (9th ed.). Benjamin Cummings /
Pearson Education. p. 265.

External links
Khan Academy, video lecture
Probability of Inheritance
Mendel's principles of Inheritance
Mendelian genetics

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