Module -3:GENETICS

Mendel's Law of Segregation?

Mendel's Law of Segregation.

The principles that govern heredity were discovered by a monk named Gregor Mendel in the
1860s. One of these principles, now called Mendel's Law of Segregation, states that allele pairs
separate or segregate during gamete formation and randomly unite at fertilization.

There are four main concepts related to this principle:

1. A gene can exist in more than one form or allele.

2. Organisms inherit two alleles for each trait.
3. When sex cells are produced (by meiosis), allele pairs separate leaving each cell with a
single allele for each trait.
4. When the two alleles of a pair are different, one is dominant and the other is recessive.

For example, the gene for seed color in pea plants exists in two forms. There is one form or allele
for yellow seed color (Y) and another for green seed color (y). In this example, the allele for
yellow seed color is dominant, and the allele for green seed color is recessive. When the alleles
of a pair are different (heterozygous), the dominant allele trait is expressed, and the recessive
allele trait is masked. Seeds with the genotype of (YY) or (Yy) are yellow, while seeds that are
(yy) are green.

Genetic Dominance

Mendel formulated the law of segregation as a result of performing monohybrid

cross experiments on plants. The specific traits that he studied exhibited complete dominance. In
complete dominance, one phenotype is dominant, and the other is recessive. Not all types of
genetic inheritance, however, show total dominance.

In incomplete dominance, neither allele is completely dominant over the other. In this type of
intermediate inheritance, the resulting offspring exhibit a phenotype that is a mixture of both
parent phenotypes. Incomplete dominance is seen in snapdragon plants. Pollination between a
plant with red flowers and one with white flowers produces a plant with pink flowers.

In codominance relationships, both alleles for a trait are fully expressed. Codominance is
exhibited in tulips. Pollination that occurs between red and white tulip plants can result in a plant
with flowers that are both red and white. Some people get confused about the differences
between incomplete dominance and codominance.

The Principle of Segregation describes how pairs of gene variants are separated into
reproductive cells. The segregation of gene variants, called alleles, and their corresponding
traits was first observed by Gregor Mendel in 1865.
The Principle Of Segregation

These alleles separate during the formation of gametes. In other words, one allele goes into each
gamete. The principle of segregation is important because it explains how the genotypic ratios
in the haploid gametes are produced.

Why is independent assortment important? Independent assortment is responsible for the

production of new genetic combinations in the organism along with crossing over. Thus, it
contributes to genetic diversity among eukaryotes.

Independent Assortment Definition

Independent assortment is a genetic term that refers to the variation of chromosomes, or genetic

information, during sex cell division. This variation allows for genetic differentiation in

offspring.

The Principle of Independent Assortment

Not surprisingly, the principle of independent assortment applies to the definition of independent

assortment. It consists of two parts, the first dealing with cell division, and the second covering

how those cells produce offspring.

The first part of the principle of independent assortment is basically the definition of independent

assortment. It states that, when sex cells undergo meiosis, or division, they do not make exact

copies of the parent’s genotype. Instead, they form unique combinations of alleles, or dominant

and recessive genes, that may express themselves differently than those of the parent.

The principle of independent assortment also covers how divided sex cells undergo

recombination to produce unique offspring. Differentiated from the parent in meiosis, the genetic
information on one set of sex cells pairs with the genetic information on another set of sex cells,

provided by the other parent. Because neither set of genetic information is wholly dominant,

offspring express a phenotype, or physical traits, that resemble both parents.

Examples of Independent Assortment

Punnett Squares

As mentioned above, parent sex cells contain alleles that combine with other parent cells to

produce the offspring’s phenotype. While these alleles follow the principle of independent

assortment in that they differ from sex cell to sex cell, parents can predict their offspring’s

phenotype using a Punnett square.

Punnett squares combine a knowledge of family genetic history with parent phenotypes to

produce a matrix of possible offspring phenotypes. To create a Punnett square, parents determine

whether they have the dominant allele (D) or the recessive allele (d) of a visible trait. If a parent

has a recessive allele, the genotype, or scientific notation of the allele, is dd. If a parent has a

dominant allele, the genotype is Dd or DD. Parents with dominant alleles may make more than

one Punnett square.

Parents then arrange their genotype variants vertically and horizontally, below a graph. They

combine these genotypes until the matrix is filled, showing all the possible phenotypes for

offspring. While Punnett squares for single-gene traits (like those pictured below) tend to

produce only four possible phenotypes, there are traits whose genetic structures are so complex,
they produce hundreds of possibilities. Nonetheless, Punnett squares make independent

assortment more predictable.

The first image below shows Punnett squares for a parent with blue eyes, while the second image

shows Punnett squares for a parent with brown eyes.

Long Eyelashes

Having long eyelashes is defined as having eyelashes that are more than one centimeter (1 cm) in

length. It has been suggested that testosterone factors into eyelash length, as more males have

long eyelashes, than females.

Genetically speaking, long eyelashes are dominant traits, which means they have the

genotype LL or Ll. Short eyelashes, on the other hand, are only ll. These combinations come

from parent sex cells, which carry either L or l.

Take for example, a male and female that both have long eyelashes. The male carries the

genotype LL, however, and the female carries the genotype Ll. This means that the parent sex

cells that created the male both carried the L gene. The female, on the other hand, had a parent

who carried gene L, and another parent who carried gene l.

Allele Definition
An allele is an essential term of genetics. Gene is the structural unit of the chromosome, which
carries heredity from one generation to another. The alleles are the pair of genes, which is
located in a specific area of the chromosome. On this page, we are going to define allele and
discuss what is the meaning of allele.
Allele Definition - There are different variants of genes present in a chromosome. An allele is a
variant of the gene, which locates in a chromosome's specific location as a pair of genes.
In the human chromosome, alleles are present in pairs and maintain the same trait. Therefore,
humans are diploid organisms. Two similar alleles are present in each genetic locus, where one
allele is inherited from each parent. Also, an allele can be two or more variants of a gene at one
genetic locus. But all the alleles maintain the same trait at a genetic locus of the chromosome.

Alleles Meaning In Biology

The word allele comes from the Greek word 'allos'. An allele is the modern formation of that word.
The word 'allos' means other. In biology, an allele means different varieties of a gene. The alleles
present in a particular genetic locus maintain the same trait. Though alleles are present in a locus as
a pair, they can also be found in more than two numbers. In the human chromosome, alleles are
present in a pair only to carry the heredity.

Genotype of Allele

Alleles are located in a particular location of the chromosome. The chromosome is the central
unit of an organism. All the alleles present in an organism build its genotype. Genotype can be of
two types depending on the similarity of the alleles.
When a pair of alleles are the same, they build homozygous genotypes. When the pair of alleles
in a location are not similar, they build heterozygous genotypes. In the case of homozygous
genotype, the allele is not dominant or recessive. But the heterozygous genotype includes one
dominant allele. The dominant allele overrules the features of the recessive allele.

Example of Allele

Now, we will be discussing some examples of alleles. Here, we are taking the example of a pea
plant. The alleles for the colour of the flower build heterozygous genotype, where the purple
allele is dominant, and white is recessive. For the height of the plant, tall is the dominant allele,
and short is recessive. For the pea colour, the dominant allele is yellow, and the recessive allele
is green. In these three cases, the dominant alleles overrule the recessive alleles' feature in the
case of heterozygous genotype. Also, the eye colour and hair colour of human organisms can be
observed as the example of alleles.

Difference Between a Gene and an Allele

There are some fundamental differences between gene and allele. The differences between a
gene and allele are given below in a tabular form.
Subject Gene Allele

It is a hereditary information unit made up of

An allele is a variation of the
Definition DNA and consists of genetic information to
gene.
transmit characteristics.

Genetic They are located at a specific genetic locus, The two copies at the specific
Locus consisting of two copies, each of the parents. genetic locus are called alleles.

An allele is present inside the

Interrelation A gene may contain different alleles. gene upon which the character of
a person is dependent.
.

Introduction of gene mapping

The chromosome mapping or gene mapping is based on two important assumptions:(i) that
genes are arranged on a chromosome in a linear fashion, and (ii) that the percentage of crossing
over (recombination frequencies) between the two genes is an index of their distance apart. A
chromosome map is a line on which the genes are represented points that are separated by
distance proportional to the amount of crossing over. The gene mapping is based on the
percentage of crossing over between genes, it is sometimes known as a crossing over map. The
relationship between the cross over frequency and the distance between loci was first suggested
in 1913 by A. I. Sturtevant. Thus, the chromosome map is a condensed graphic representation of
relative distances between the linked genes, expressed in percentage of recombination among the
genes in one linkage group. Distances between genes can be expressed in map units, where one
map unit is defined as 1 per cent recombination. So, The representation in figure of relative
position of genes on the chromosome is known as chromosome map in the process of identifying
gene loci is called gene mapping.

Explanation of Gene Mapping

The amount of crossing over, on which the gene mapping is prepared, has been drawn from Test
crosses. There is no direct microscopic examination of the chromosome. The gene mapping is
based on two assumptions which are very easy to understand, those are: i) The genes are
arranged in a liner fashion on the chromosome. ii) The percentage of crossing over between the
two genes is an index of their distance in the chromosome.

Recombination frequency or Cross over value = Total number of recombinants in Test Cross /
Total number of progeny of the Test Cross. The value is generally represented as a per cent of
the total population. The variation in recombination frequency is governed by the distance
between the genes. Closer the distance between the two genes, the less are the chances of
crossing over. As a result there is lower frequency of recombination. The greater is the distance
between the genes, the higher is the percentage of crossing over between them.

Construction of gene mapping

To construct the gene mapping of an animal or plant, its chromosomes are first represented by
straight lines and then the positions of genes are determined from the percentage of crossing over
data. The percentage of crossing over is governed by the distance between the genes concerned.
If the two genes are closer then the chance of crossing over will be less I which will be reflected
in the recombination frequency.

Technique of gene mapping

The assumption of consistent gene order along the chromosome, coupled with the fact that
crossing occurs, makes it almost certain that gene loci can be determined in relation to each
other. If genes are located in a consistent linear order along a chromosome, then the distance
between any two genes and the amount of (Tossing over that occurs between them should be in
direct proportion. Homologous chromosomes cross over each other and such cross over
occasionally lead to an exchange of chromosome segments between the pairs. When such an
exchange occurs, the linkage between certain genes is broken and new gamete possibilities arise.
Higher the number of such gametes, greater will be the portion of the offspring showing the
cross over phenotype. This percentage, therefore, gives direct measure of the amount of
chromosomal crossing over. In other word, it provides a direct measure of the distance between
the genes involved.

Factors Affecting Gene Mapping

(i) Double Crossing Over : This phenomenon occurs between two genes which are
situated by long distance on the same chromosome. It has been observed, though
there is double crossing over yet the two genes are remaining on the same
chromosome. There is no apparent sign of crossing over. So, calculation of crossing
over percentage may cause mistakes in the chromosome map.
(ii) (ii) Interference : One chiasma may interfere to form another chiasma formation in
the vicinity. As a result, one crossing over may reduces the crossing over in the
vicinity.
(iii) Temperature : High and low temperatures increase the frequency of crossing over.
Hence, the temperature causes fluctuations in the location of genes on chromosome.
(iv) (iv) X-ray : This ray increases the frequency of crossing over and disturb the location
of genes on chromosome mapping.
 (v) (v) Age : Experiment of Bridges shows that crossing over is more frequent in older
females of Drosophila. Thus age also affects the frequency of crossing over. Hence,
ageing also cause fluctuations in loci of genes on chromosome.
(vi) (vi) Location : Crossing over is less frequent near centromere and near the terminal
ends of chromosome.
(vii) (vii) Sex : The males of many organisms show less frequency of crossing over. In
male Drosophila there is no crossing over. Thus, sex may also affect the frequency of
crossing over.

Utility or Importance of Gene Mapping

(i) Chromosome mapping or gene mapping are very useful in the study of genetic
engineering. (ii) Chromosome maps are very helpful to find out the exact location of
new mutant gene in chromosome. (iii) Chromosome maps have established the
validity that genes are arranged in a linrar fashion in chromosome. (iv) Gene
Mapping have established the concept that the specific genes occupy the specific loci
in the specific chromosome.

Introduction to Gene Interaction:

Mendelian genetics does not explain all kinds of inheritance for which the phenotypic ratios in
some cases are different from Mendelian ratios (3:1 for monohybrid, 9:3:3:1 for di-hybrid in F 2).
This is because sometimes a particular allele may be partially or equally dominant to the other or
due to existence of more than two alleles or due to lethal alleles. These kinds of genetic
interactions between the alleles of a single gene are referred to as allelic or intra- allelic
interactions.
Non-allelic or inter-allelic interactions also occur where the development of single character is
due to two or more genes affecting the expression of each other in various ways.

Thus, the expression of gene is not independent of each other and dependent on the presence or
absence of other gene or genes; These kinds of deviations from Mendelian one gene-one trait
concept is known as Factor Hypothesis or Interaction of Genes (Table 7.1).
2. Allelic Gene Interactions:
Incomplete Dominance or Blending Inheritance (1:2:1):
A dominant allele may not completely suppress other allele, hence a heterozygote is
phenotypically distinguishable (intermediate phenotype) from either homozygotes.
In snapdragon and Mirabilis jalapa, the cross between pure bred red-flowered and white-
flowered plants yields pink-flowered F1 hybrid plants (deviation from parental phenotypes), i.e.,
intermediate of the two parents. When F1 plants are self-fertilized, the F2 progeny shows three
classes of plants in the ratio 1 red: 2 pink: 1 white instead of 3:1 (Fig. 7.1).

Therefore, a F1 di-hybrid showing incomplete dominance for both the characters will segregate
in F2 into (1 :2 : 1) X (1 :2 : 1 ) = 1 :2 : 1 : 2 : 4 : 2:1 : 2 : 1. And a F 1 di-hybrid showing
complete dominance for one trait and incomplete dominance of another trait will segregate in
F2 into (3:1) x (1 :2:1) = 3:6:3:1 :2:1.
Co-dominance:
Here both the alleles of a gene express themselves in the heterozygotes. Phenotypes of both the
parents appear in F1 hybrid rather than the intermediate phenotype. In human, MN blood group is
controlled by a single gene.
Only two alleles exist, M and N. Father with N blood group (genotype NN) and mother with M
blood group (genotype MM) will have children with MN blood group (genotype MN). Both
phenotypes are identifiable in the hybrid. F2 segregates in the ratio 1M blood group: 2 MN blood
group : 1 N blood group.
ADVERTISEMENTS:

Over-dominance:
Sometimes the phenotype of F1 heterozygote is more extreme than that of either parents. The
amount of fluorescent eye pigment in heterozygous white eyes of Drosophila exceeds that found
in either parents.
Lethal Factor (2:1):
The genes which cause the death of the individual carrying it, is called lethal factor. Recessive
lethals are expressed only when they are in homozygous state and the heterozygotes remain
unaffected. There are genes that have a dominant phenotypic effect but are recessive lethal, e.g.,
gene for yellow coat colour in mice.

But many genes are recessive both in their phenotypic as well as lethal effects, e.g., gene
producing albino seedlings in barley (Fig. 7.2).

Dominant lethals are lost from the population because they cause death of the organism even in a
heterozygous state, e.g., epiloia gene in human beings. Conditional lethals require a specific
condition for their lethal action, e.g., temperature sensitive mutant of barley (lethal effect at low
temperature).

Balanced lethals are all heterozygous for the lethal genes; both dominant and recessive
homozygotes will die, e.g., balanced lethal system in Oenothera. Gametic lethals make the
gametes incapable of fertilization, e.g., segregation distorter gene in male Drosophila.

Semi-lethal genes do not cause the death of all the individuals, e.g., xentha mutants in some
plants.

Multiple Alleles:
A gene for particular character may have more than two allelomorphs or alleles occupying same
locus of the chromosome (only two of them present in a diploid organism). These allelomorphs
make a series of multiple alleles.

Human ABO blood group system furnishes best example. The gene for antigen may occur in
three possible allelic forms – lA, IB, i. The allele for the A antigen is co-dominant with the allele
I8 for the B antigen. Both are completely dominant to the allele i which fails to specify any
detectable antigenic structure. Therefore, the possible genotypes of the four blood groups are
shown in Fig. 7.3.

Self-sterility in tobacco is determined by the gene with many different allelic forms. If there are
only three alleles (s1, s2, s3), the possible genotypes of plants are s1s2, s1s3, s2s3 (always
heterozygous), homozygous genotypes (s1s1, s2s2, s3s3) are not possible in a self-incompatible
species.
In this case, pollen carrying an allele different from the two alleles present in the female plant
will be able to function resulting in restriction of fertility (Fig 7.4).Iso-alleles express themselves
within the same phenotypic range, e.g., in Drosophila several alleles (W +s ,W+c, W+g) exhibit red
eye colour.

3. Non Allelic Gene Interactions:

Simple Interaction (9:3:3:1):
In this case, two non-alleiic
alleiic gene pairs aaffect
ffect the same character. The dominant allele of each of
the two factors produces separate phenotypes when they are alone. When both the dominant
alleles are present together, they produce a dis
distinct
tinct new phenotype. The absence of both the
dominant alleles gives rise to yet another pheno
phenotype.

The inheritance of comb types in fowls is the best example where R gene gives rise to rose comb
and P gene gives rise to pea comb; both are dominant over single comb; the presence of both the
dominant genes results in walnut comb (Fig. 7.5). Similar pattern of inheritance is found in
Streptocarpus flower colour (Fig. 7.6).

Inhibitory Factor:
Inhibitory factor is such a gene which itself has no phenotypic effect but inhibits the expression
expres
of another non-allelic gene;
e; in rice, purple leaf colour is due to gene P, and p causing green
colour. Another non-allelic
allelic dominant gene I inhibits the expression of P but is ineffective in
recessive form (ii). Thus the factor I has no visi
visible
ble effect of its own but inhibits the colour
co
expression of P (Fig. 7.11).

Other Kinds of Gene Interactions:

Modifiers:
Genes which modify the phenotypic effect of a major gene called modifying gene. They reduce
or enhance the effect of other gene in quantitative manner, e.g., genes respon
responsibl
sible for dilution of
body colour.
Suppressors:
Genes which will not allow mutant allele of another gene to express resulting in wild phenotype
called suppressor gene, e.g., Su-s in Drosophila suppresses the expression of dominant mutant
gene star eye(s).

Pleiotropy:
Gene having more than one effect (multiple effects) are called pleiotropic genes. They have a
major effect in addition to secondary effect. In Drosophila, the genes for bristle, eye and wing
significantly influence the number of facets in bar-eyed individuals.

Atavism:
The appearance of offspring’s which resemble their remote ancestors called atavism.

Penetrance:
The ability of a gene to be expressed phenotypically to any degree is called penetrance.
Penetrance may be complete, e.g., in pea, expression of R allele for red flower in homozygous
and heterozygous conditions. It may be incomplete, e.g., dominant gene P for Polydactyly in
human, sometimes does not show polydactylous condition in heterozygous state.

Expressivity:
A trait though penetrant, may be quite variable in its phenotypic expression, e.g., in human
polydactylous condition may be penetrant in left hand but not in the right

Epistasis Definition

“Interaction between genes which determine a phenotype”

Genetics entails a phenomena, epistasis wherein the impact of a gene mutation depends on the
absence or presence of mutations in one or more other genes referred to as modifier genes.
Consequently, the epistatic mutations have various effects on their own than when it occurs
together. Epistasis particularly is used to indicate that the effect of gene variant gets masked by
other genes.

Interactions between genes or epistasis have been identified to be significant fundamentally to

comprehend the role as well as the structure of genetic pathways and the evolutionary dynamics
of the complicated genetic systems. There is a revived approval for both the significance of
studying gene interactions and to address questions in a co-ordinated quantitative mode with the
arrival of high turnout functional genomics along with the unfolding of system approaches in the
field of biology. This is joined by the newly discovered cognition to follow the genetic basis of
evolution to the particular molecular alterations.

Epistasis in human genetic diseases is common though there are some examples wherein the
serviceable footing of a specific interaction has been illustrated. Epistasis emerges as a natural
repercussion of the process of evolution as all resultant changes due to evolution are based on
genetic alterations previously taken place.

Types of Epistasis

Epistasis gene interactions are of 6 types

 Dominant
 Recessive
 Polymeric gene interaction
 Dominant inhibitory
 Duplicate recessive
 Duplicate dominant
It is a simple or dominant epistasis whenever a dominant allele conceals the expressing of both
recessive and dominant alleles at other loci.

It is a recessive epistasis when the recessive allele conceals the expressing.

It is suppression epistasis or dominant inhibitory when genes conceal other genes by suppression.
It is a result of genes acting as suppressors or a component inhibiting the expressing of other
alleles.

Duplicate epistasis is based on two loci. It is duplicate recessive epistasis whenever there is a
recessive allele concealing the expressing of dominant alleles at two loci. This is also referred to
as a complementary gene action as both the genes are necessary for the accurate phenotype to be
available. Epistasis is said to be duplicate gene action or dominant epistasis whenever there is a
dominant allele concealing the expression of recessive alleles at two loci.

The union of both dominant alleles strengthening the phenotype or creating a median variation is
the polymeric gene interaction. When on their own, each of these dominant alleles generates a
physical characteristic differing from the united dominant alleles. Consequently, 3 phenotypes
are created for 2 dominant alleles only.
Epistasis – Example

Malvidin, a chemical is produced by Primula, a plant. Production of Malvidin is determined by

the K gene where the suppression of its production is regulated by the D gene. Both of these
genes are dominant characteristics. There is no expression of a dominant D allele even in the
presence of dominant K allele. This interplay of the alleles can be classified then as the dominant
inhibitory type of epistasis because the dominant D allele impedes the K allele.

Meiosis

Meiosis is a type of cell division that results in the formation of four daughter cells each with
half the number of chromosomes as the parent cell.

 Meiosis is the form of nuclear cell division that results in daughter cells that have one
half the chromosome numbers as the original cell.
 In organisms that are diploid, the end result is cells that are haploid. Each daughter cell
gets one complete set of chromosomes, i.e., one of each homologous pair of
chromosomes.
 In humans, this means the chromosome number is reduced from 46 to 23.
 The only cells that undergo meiosis will become sperm or eggs.
 The joining together of a sperm and egg during fertilization returns the number of the
chromosomes to 46.
 Cells that undergo meiosis go through the cell cycle including the S phase so begin the
process with chromosomes that consist of two chromatids just as in mitosis.
 Meiosis consists of meiosis I and meiosis II. In meiosis I homologous chromosomes are
separated into different nuclei.
 This is the reduction division; chromosome number is cut in half. Meiosis II is very
similar to mitosis; chromatids are separated into separate nuclei.
 As in mitosis, it is spindle fibres that “pull” the chromosomes and chromatids apart.
 The end result of meiosis is four cells, each with one complete set of chromosomes
instead of two sets of chromosomes.

Mitosis

Mitosis is the type of cell division that results in the formation of two daughter cells each with
the same number and kind of chromosomes as the parent cell.
  Mitosis is a continuous process of cell division which occurs in all types of living cells.
 Mitosis involves four basic phases – prophase, metaphase, anaphase and telophase.
 Mitosis is the process where the division of cell occurs by asexual reproduction.
 In mitosis, the nuclear membrane is broken down, spindle fibres (microtubules) attach to
the chromatids at the centromere and pull apart the chromatids.
 When the chromatids reach separate ends of the cells, the spindle fibres disintegrate and a
nuclear membrane rebuilds around the chromosomes making two nuclei.
 Each nucleus is identical to the original nucleus as it was in G1.

Differences Between Mitosis and Meiosis

The important difference between mitosis and meiosis are mentioned below:

Difference between Mitosis and Meiosis

Mitosis Meiosis

Interphase

Each chromosome replicates. The result is Chromosomes not yet visible but DNA has
two genetically identical sister chromatids been duplicated or replicated
(However, do note that interphase is
technically not a part of mitosis because it
takes place between one mitotic phase and
the next)

Prophase

Prophase –Each of the duplicated Prophase I – crossing-over recombination –

chromosomes appears as two identical or
equal sister chromatids, The mitotic spindle
begins to form. Chromosomes condense and
thicken
Homologous chromosomes (each consists of
two sister chromatids) appear together as
pairs. Tetrad is the structure that is formed.
Segments of chromosomes are exchanged
between non-sister chromatids at crossover
points known as chiasmata (crossing-over)
 Metaphase

Metaphase -The chromosomes assemble at Metaphase I Chromosomes adjust on the

the equator at the metaphase plate metaphase plate. Chromosomes are still
intact and arranged as pairs of homologues

Anaphase

Anaphase – The spindle fibres begin to
contract. This starts to pull the sister
chromatids apart. At the end of anaphase, a
complete set of daughter chromosomes is
found each pole
Anaphase I Sister chromatids stay intact.
However, homologous chromosomes drift to
the opposite or reverse poles

Mode of Reproduction

Asexual Reproduction Sexual Reproduction

Occurrence

All the cells Reproductive cells

Function

General growth and repair, Cell reproduction Genetic diversity through sexual
reproduction

Cytokinesis

Occurs in Telophase Occurs in Telophase I and in Telophase II

 Discovered by

Walther Flemming Oscar Hertwig

Similarities Between Mitosis and Meiosis

 Both mitosis and meiosis takes place in the cell nuclei which can be observed under a
microscope
 Mitosis and meiosis, both involve cell division
 Both the processes occur in the M-phase of the cell cycle. In both cycles, the typical
stages are metaphase, anaphase, telophase and prophase
 In both the cycles, synthesis of DNA takes place

Conclusion
The difference between Mitosis and Meiosis is quite apparent. They are two very different
processes that have two different functions. Meiosis is required for genetic variation and
continuity of all living organisms. Mitosis, on the other hand, is focused on the growth and
developments of cells. Meiosis also plays an important role in the repair of genetic defects in
germline cells.
How is genetic material passed from parent to offspring?

One copy is inherited from their mother (via the egg) and the other from their father (via the
sperm). A sperm and an egg each contain one set of 23 chromosomes. When the sperm fertilises
the egg, two copies of each chromosome are present (and therefore two copies of each gene), and
so an embryo forms

Reproduction is the process by which new offspring are produced by the involvement of male
and female sex cells which involves transferring of genetic information. In the event of
fertilization, the male sex cell i.e, the sperm and the female sex cell i.e, the egg fuse to form the
zygote. Through stages of meiosis and mitosis(cell division), DNA is split and transferred to the
child. The new offspring inherits exactly half the DNA from each of their parents, while each
parent passes half their DNA to each of their children.
During sexual fertilization, DNA from both the parents combine. This assures that the families
pass on and maintain the genetic identity, but there is a genetic difference either with their
parents or their paternal and maternal grandparents so much so that they are also different
genetically from their own sisters and brothers unless it is a case of identical twins.
Human DNA has a history of our ancestors. The mix of the DNA is unique to an individual as
we receive 50% of the DNA from each of the parent, who received 50% of their DNA from their
parents and so on which keeps reducing over generations. Genes are a series of letters and forms
the blueprint of our body that is preserved in the nucleus of the cells. These letter sequences
contain genetic information to build specific molecules.
The letters that get passed down to each generation are random, and not all letters get passed.
Our siblings can have different combinations of letters. The genes are duplicated ‘letter for letter’
to a related substance called the RNA(ribonucleic acid). The functional components of the cell
read the RNA to create the hormone or protein as per the instructions. Each gene codes the
instruction for one protein only, and this one protein can have different roles in the human body.
One characteristic can be influenced by many genes. Variation in the gene code sometimes leads
to the disruption of the coded messages of the genes. These variations are referred to
as mutations, which can lead to numerous medical conditions.
The table below shows the percentage of DNA that is shared with each generation on average.

Percentage of DNA Generation

50 Parents

25 Grandparents

12.5 Great grandparents

6.25 Great great grandparents

3.125 Great great great grandparents

Recombination causes chunks of DNA from distant relatives to eventually weaken away. The
above table depicts the percentage of DNA that we obtain from our great-great-great-
grandparents which is a mere 3%. As swapping in recombination is arbitrary, the percentage can
slightly vary and hence we might obtain more DNA from one chromosome in a pair than the
other
principle of dominance and Recessiveness?

By definition, the terms dominant and recessive refer to the genotypic interaction of alleles in
producing the phenotype of the heterozygote. The key concept is genetic: which of the two
alleles present in the heterozygote is expressed, such that the organism is phenotypically
identical to one of the two homozygotes.

Keeping this in consideration,

One of Gregor Mendel's main ideas is called the Law of Dominance (also sometimes called
the Principle of Dominance). The Law of Dominance says that when an organism is
heterozygous for a trait, only the dominant allele will produce a phenotype.

Subsequently, question is, what is the principle of dominance quizlet? This is the principle of
segregation. He also observed that some alleles coded for a dominant trait, and
these dominant traits were observed even in the presence of the allele coding for a recessive
trait. This is the principle of dominance.

Just so, what is dominance and Recessiveness?

Dominance is a relationship between two alleles of a gene and their associated phenotypes. A
"dominant" allele is dominant to a particular allele of the same gene that can be inferred from
the context, but it may be recessive to a third allele, and codominant to a fourth.

How do dominant and recessive genes work?

The way people write out dominant and recessive traits is the dominant one gets a capital
letter and the recessive one a lower case letter. So for eye color, brown is B and blue is b. As I
said above, people have two versions of each gene so you can be BB, Bb, or bb--BB and Bb

have brown eyes, bb, blue eyes.

What is the and form of dominance law?

Mendel's Law of Dominance can also be simply stated as: “In a cross of parents that are pure for
contrasting traits, only one form of the trait will appear in the next generation. Offspring that are
hybrid for a trait will have only the dominant trait in the phenotype.”

Single Gene Disorders

A single gene disorder is caused by variations (or mutations) in the DNA sequence of a specific
gene. The DNA changes affect the product that the gene codes for—usually a protein—causing it
to be altered or missing. The features of each disorder are related to the specific gene that is
affected and the job that the protein has in the body.
Some genetic disorders are so serious that children who have them are extremely sick or cannot
survive after birth. Others are relatively easy to manage, and with proper care, people who have
them have very fulfilling lives. The chances of a good outcome are much higher if the condition
is identified soon after birth, or even before.
Because they are caused by specific gene variations, many single-gene disorders run in families.
When one or both parents are carriers of a genetic disorder, they have a chance of passing it to
their children—even if they themselves are healthy.
The chance of a person passing a genetic disorder to their children depends on the characteristics
of the disease, including the inheritance pattern.
If someone knows that a genetic disorder runs in their family, they can have a genetic test to find
out if they have disease-causing gene variations. Some people choose to be tested before having
children. However, people are not always aware when their families have been affected by a
genetic disorder. They may not connect it to a pregnancy loss or a baby being sick, especially if
it happened a long time ago.
In some cases, single gene disorders are caused by new (also called de novo) mutations. These
mutations happen during egg or sperm formation in the parents, or soon after egg and sperm
come together to form an embryo. In these cases, the parents do not carry the genetic variation in
their other cells, and there is little chance that they would have a second child with the same
disorder. Still, the child with the disorder can pass the affected gene, and the disorder, to their
children. Tracking down the genetic basis in these cases can be challenging, often requiring
extensive testing.

Some single-gene disorders “run in the family.” A pedigree chart like this can help families and
medical professionals recognize inheritance patterns—in this case, X-linked recessive
inheritance.

Testing for Single Gene Disorders

Genetic testing for both diagnosis and carrier status is usually done on DNA from a blood
sample or a cheek swab.
For many single-gene disorders, the genetic basis is well understood, and the disease-causing
gene variants can be identified with genetic testing. People are tested for two main reasons: to
find out if they have a particular genetic disorder, or to find out if they are a carrier.
Making a diagnosis
A doctor may order testing for a specific disorder or set of disorders based on a person's
symptoms or characteristics. If symptoms tend to appear later in life, a person may wish to be
tested when they are younger, especially if they know the disorder runs in their family, and if
there is something they can do to prevent or delay resulting medical problems.
Many genetic disorders are identified in newborn babies through newborn genetic screening,
even before symptoms appear. Many of the newborn screening tests look at chemicals in the
blood that are signs of a disorder. A positive screening result is usually followed by genetic
testing on a DNA sample.
Identifying carrier status
Genetic testing can also reveal whether a person is a carrier of a genetic disorder. A carrier does
not have the disorder themselves, but they have an increased risk of having a child with the
moduledisorder.
Increasingly commonly, even people with no known family history of a genetic disorder learn of
their carrier status through genetic testing before they try to have children. Some doctors and
genetic counselors recommend specific genetic tests based on their patients' ethnic backgrounds.
However, for many reasons, they are becoming more likely to recommend expanded carrier
screening—a single test that looks at dozens of genes. And direct-to-consumer genetic testing
kits provide some information about carrier status for some of the most common causes of
genetic disorders.
Carriers of a genetic disorder who wish to have a child can use preimplantation genetic testing to
greatly increase their chances of having a healthy baby.

Complementation (genetics)

In genetics, complementation occurs when two strains of an organism with different

homozygous recessive mutations that produce the same mutant phenotype (for example, a
change in wing structure in flies) have offspring that express the wild-type phenotype when
mated or crossed. Complementation will ordinarily occur if the mutations are in different genes
(intergenic complementation). Complementation may also occur if the two mutations are at
different sites within the same gene (intragenic complementation), but this effect is usually
weaker than that of intergenic complementation. In the case where the mutations are in different
genes, each strain's genome supplies the wild-type allele to "complement" the mutated allele of
the other strain's genome. Since the mutations are recessive, the offspring will display the wild-
type phenotype. A complementation test (sometimes called a "cis-trans" test) can be used to test
whether the mutations in two strains are in different genes. Complementation ordinarily will
occur more weakly or not at all if the mutations are in the same gene. The convenience and
essence of this test is that the mutations that produce a phenotype can be assigned to different
genes without the exact knowledge of what the gene product is doing on a molecular level. The
complementation test was developed by American geneticist Edward B. Lewis.

If the combination of two genomes containing different recessive mutations yields a mutant
phenotype, then there are three possibilities:

1. Mutations occur in the same gene.

2. One mutation affects the expression of the other.
3. One mutation may result in an inhibitory product.

Complementation tests in fungi and bacteriophage[edit]

Complementation tests can also be carried out with haploid eukaryotes such as fungi, with
bacteria and with viruses such as bacteriophage.[1] Research on the fungus Neurospora crassa led
to the development of the one-gene-one enzyme concept that provided the foundation for the
subsequent development of molecular genetics. [2][3] The complementation test was one of the
main tools used in the early Neurospora work, because it was easy to do, and allowed the
investigator to determine whether any two nutritional mutants were defective in the same, or
different genes.
The complementation test was also used in the early development of molecular genetics when
bacteriophage T4 was one of the main objects of study.[4] In this case the test depends on mixed
infections of host bacterial cells with two different bacteriophage mutant types. Its use was key
to defining most of the genes of the virus, and provided the foundation for the study of such
fundamental processes as DNA replication and repair, and how molecular machines are
constructed.

Genetic complementation, heterosis and the evolution of sexual

reproduction[edit]

Heterosis is the tendency for hybrid individuals to exceed their pure bred
parents in size and vigor. The phenomenon has long been known in
animals and plants. Heterosis appears to be largely due to genetic
complementation, that is the masking of deleterious recessive alleles in
hybrid individuals.

In general, the two fundamental aspects of sexual reproduction in

eukaryotes are meiosis, and outcrossing. These two aspects have been
proposed to have two natural selective advantages,
respectively. Meiosis is proposed to be adaptive because it facilitates
recombinational repair of DNA damages that are otherwise difficult to
repair. Outcrossing is proposed to be adaptive because it facilitates
complementation, that is the masking of deleterious recessive
alleles [5] (also see Heterosis). The benefit of masking deleterious alleles
has been proposed to be a major factor in the maintenance of sexual
reproduction among eukaryotes. Further, the selective advantage of
complementation that arises from outcrossing may largely account for
the general avoidance of inbreeding in nature (e.g. see articles Kin
recognition, Inbreeding depression and Incest taboo.