AGENDA

Introduction to genetics.

Overview of Mendelian genetics and Modifications

Sex Determination and Sex related Inheritance.

Inbreeding & Inbreeding depression

Outbreeding & Heterosis

Gene Mutations

Summary

References
Introduction to genetics….

Genetics: Branch of biology that deals with heredity and variation of

organism.

Chromosomes carry the hereditary information (genes)

Chromosomes (and genes) occur in pairs: Homologous Chromosomes.

New combinations of genes occur in sexual reproduction involving

fertilization from two parents.
Introduction to genetics…
Genetics terms you need to know:

Gene – a unit of heredity; a section of DNA sequence encoding a single protein

Genome – the entire set of genes in an organism.

Alleles – two genes that occupy the same position on homologous

chromosomes and that cover the same trait (like ‘flavors’ of a trait).

Locus – a fixed location on a strand of DNA where a gene or one of its alleles
is located.

Homozygous – having identical genes (one from each parent) for a particular
characteristic.

Heterozygous – having two different genes for a particular characteristic.

Dominant – the allele of a gene that masks or suppresses the expression of an

alternate allele; the trait appears in the heterozygous condition.

Recessive – an allele that is masked by a dominant allele; does not appear in

the heterozygous condition, only in homozygous.

Genotype – the genetic makeup of an organisms.

Phenotype – the physical appearance of an organism (Genotype + environment)

Overview of Mendelian genetics and modifications…
Gregor Johann Mendel

Austrian Monk, born in what is now Czech Republic in 1822. Son of peasant
farmer, studied Theology and was ordained priest Order St. Augustine. Went to
the university of Vienna, where he studied botany and learned the Scientific
Method

Prior to Mendel, heredity was regarded as a "blending" process and the

offspring were essentially a "dilution” of the different parental characteristics.

Worked with pure lines of peas for eight years. Mendel looked at seven traits or
characteristics of pea plants: In 1866 he published Experiments in Plant
Hybridization, (Versuche über Pflanzen-Hybriden) in which he established his
three Principles of Inheritance

He tried to repeat his work in another plant, but didn’t work because the plant
reproduced asexually! If…

Work was largely ignored for 34 years, until 1900, when 3 independent botanists
rediscovered Mendel’s work.

Mendel was the first biologist to use Mathematics – to explain his results
quantitatively.

Mendel predicted: The concept of genes, That genes occur in pairs & That one
gene of each pair is present in the gametes.
Overview of Mendelian genetics and modifications…

Mendel looked at seven traits or characteristics of pea plants:

Overview of Mendelian genetics and modifications…
The “blending” hypothesis is the idea that genetic material from the two parents
blends together (like blue and yellow paint blend to make green). Prior to
Mendel, heredity was regarded as a "blending" process and the offspring were
essentially a "dilution” of the different parental characteristics.

The “particulate” hypothesis is the idea that parents pass on discrete heritable
units (genes). This hypothesis can explain the reappearance of traits after
several generations. Mendel documented a particulate mechanism through his
experiments with garden peas.

Mendel discovered the basic principles of heredity by breeding garden peas in

carefully planned experiments with scientific approach.

His principles/laws of heredity are as follows:

1. Principle of Dominance: One allele masked another, one allele was dominant
over the other in the F1 generation.

2. Principle of Segregation: When gametes are formed, the pairs of hereditary

factors (genes) become separated, so that each sex cell (egg/sperm) receives
only one kind of gene.

Based on these results, Mendel postulated the

3. Principle of Independent Assortment: “Members of one gene pair segregate

independently from other gene pairs during gamete formation”
Overview of Mendelian genetics and modifications…
Inheritance patterns are often more complex than predicted by simple
Mendelian genetics and following were the extensions or modifications for
Mendelian genetics:

Extending Mendelian Genetics for a Single Gene

Inheritance of characters by a single gene may deviate from simple Mendelian
patterns in the following situations:
1. When alleles are not completely dominant or recessive
2. When a gene has more than two alleles
3. When a gene produces multiple phenotypes

Extending Mendelian Genetics for a Two or more Gene

Some traits may be determined by two or more genes

Nature and Nurture: The Environmental Impact on Phenotype

1. when the phenotype for a character depends on environment as well as
genotype
2. The norm of reaction is the phenotypic range of a genotype influenced by
the environment
3. For example, hydrangea flowers of the same genotype range from blue-
violet to pink, depending on soil acidity
However, the basic principles of segregation and independent assortment apply
even to more complex patterns of inheritance
Overview of Mendelian genetics and modifications…

Modifications of Mendelian Principles:

 Multiple alleles

 Dominance relationships

 Gene interactions

 Essential genes and lethal alleles

 Gene expression and the environment

 Epigenetics
Sex determination ……
Sex determination :

A sex-determination system determines the development of sexual characteristics in an

organism. The details of some sex-determination systems are not yet fully understood.

I. Genetic sex-determination systems

In many cases, sex determination is genetic: males and females have different alleles or even
different genes that specify their sexual morphology. In animals, this is often accompanied by
chromosomal differences.

1. The XX/XY sex-determination system

2. The XX/X0 sex determination system
3. ZW sex chromosomes
4. Haplodiploidy

II. Non-genetic sex-determination systems

1. Environmental variable system
2. Social variables system
Sex determination ……
Sex determination :
I. Genetic sex-determination systems
1. The XX/XY sex-determination system: This system is found in most mammals
(including humans), as well as some insects. In the system, females have two of the same kind
of sex chromosome (XX), while males have two distinct sex chromosomes (XY). The XY sex
chromosomes are different in shape and size from each other, unlike the autosomes.

2. The XX/X0 sex determination system: In this system the females have two copies of
the sex chromosome (XX) while the males have only one (X0). The “0” denotes the absence of
a second sex chromosome. This system is observed in a number of insects, including the
grasshoppers and crickets and in cockroaches. The nematode C. elegans is male with one sex
chromosome (X0); with a pair of chromosomes (XX) it is a hermaphrodite. A small number of
mammals also lack a Y chromosome. These include the spiny rats. Voles also have a form of
X0 determination in which both genders lack a second sex chromosome. The mechanism of
this sex determination is not yet understood.

3. ZW sex chromosomes: The ZW sex-determination system is found in birds, some insects

and other organisms. The ZW sex-determination system is reversed compared to the XY
system: females have two different kinds of chromosomes (ZW), and males have two of the
same kind of chromosomes (ZZ).

4. Haplodiploidy: Haplodiploidity is found in insects such as ants and bees. Unfertilized eggs
develop into haploid individuals, which are the males. Diploid individuals are generally female
but may be sterile males.
Sex determination ………
Sex determination :

II. Non-genetic sex-determination systems

1. Environmental variable system: In some species of reptiles, including alligators, some

turtles, sex is determined by the temperature at which the egg is incubated.

2. Physiological/Social variable system: Some species, such as some snails, practice sex
change: adults start out male, then become female. In tropical clown fish, the dominant
individual in a group becomes female while the other ones are male, and bluehead wrasses are
the reverse. In the marine worm larvae become males if they make physical contact with a
female, and females if they end up on the bare sea floor.

Some species, however, have no sex-determination system. Hermaphrodites

include the common earthworm and certain species of snails. A few species of
fish, reptiles, and insects reproduce by parthenogenesis and are female
altogether.
Sex related inheritance……

Sex limited inheritance

1. Autosomal, not found in the sex chromosomes.

2. Genes are carried by both males and females, but only one sex would ever express them
Example: genes that influence how much milk a lactating mother produces when she’s nursing a baby
Another example: Cryptorchidism (undescended testicles)

Sex influenced inheritance

1. Autosomal, not found in the sex chromosomes.

2. Genes are carried by both males and females, but there is a difference in the way the two sexes
express them
Example: pattern baldness in humans. The baldness allele behaves like a dominant allele in males,
while in females it behaves like a recessive allele

Sex linked inheritance

1. Genes are found on the sex chromosomes.

2. Sex-linked traits behave differently from autosomal traits when sex chromosomes are non-
homologous.
3. May be dominant or recessive in nature.
4. Phenotype is dependent also on the presence of a complete gene pair or just one allele
Example: Hemophilia (X-linked)
Inbreeding and Inbreeding depression
Inbreeding – The mating of animals more closely related than the average of the breed or
population. There are two types of inbreeding called intensive inbreeding and line breeding.

1. Intensive inbreeding – Mating of closely related animals for several

generations.

2. Line breeding – A mild form of inbreeding that maintains a high genetic

relationship to an outstanding ancestor.

Inbreeding depression: is the opposite of hybrid vigor. It is a decrease in performance of inbred

individuals for traits affected by dominance and epistasis like fertility and survival traits. It is a
manifestation of poor gene combination value which results from increased homozygosity.
Outbreeding and Heterosis
Outbreeding – The mating of animals not as closely related as the average
of the population. There are four types of outbreeding called species
cross, crossbreeding, outcrossing, and grading up.

1. Species cross – Crossing of animals of different species. (Example:

Horse to donkey)
2. Crossbreeding – Mating of animals of different established breeds.
3. Outcrossing – Mating of unrelated animals within the same breed.
4. Grading up – Mating of purebred sires to commercial grade females
and their female offspring for several generations.

The main objective of crossbreeding is to obtain hybrid vigor or Heterosis.

Hybrid vigor (HV): an increase in the performance of crossbred progeny over

purebred progeny in traits affected by non-additive factors (dominance, over
dominance and epistasis). It is an increase in gene combination value (GCV)
that results from the increase in heterozygous genotypes due to crossbreeding.
Gene mutations

Mutations are changes made to an organism’s genetic material. These changes may be due
to errors in replication, errors during transcription , radiation, viruses and many other
things. Mutations can occur within a specific gene (small scale / GENE MUTATIONS), as well
as to the chromosome as a whole (large scale / CHROMOSOMAL MUTATIONS).

GENE MUTATIONS/small scale mutations/ Point mutations

There are three main types of small scale gene mutations.

These all affect one nucleotide in a DNA triplet and hence referred as Point Mutations

1. Reversal/ Substitution (Lucky or unlucky)

2. Deletions (Frame shift mutations)

3. Insertions (Frame shift mutations)

Gene mutations

GENE MUTATIONS/small scale mutations/ Point mutations:

 A gene mutation is a change in the nucleotide sequence that composes a gene.

There are two major types of gene mutations as follows:

1. Somatic mutations : are mutations that occur in cells of the body excluding the
germline. Affects subsequent somatic cell descendants. Limited to impact on
the individual and not transmitted to offspring

2. Germline mutations: are mutations that occur in the germline cells. Possibility
of transmission to offspring
Gene mutations
Missense mutation
This type of mutation is a change in one DNA base pair that results in the substitution
of one amino acid for another in the protein made by a gene.

Nonsense mutation
A nonsense mutation is also a change in one DNA base pair. Instead of substituting one
amino acid for another, however, the altered DNA sequence prematurely signals the
cell to stop building a protein. This type of mutation results in a shortened protein that
may function improperly or not at all.

Insertion
An insertion changes the number of DNA bases in a gene by adding a piece of DNA. As
a result, the protein made by the gene may not function properly.

Deletion
A deletion changes the number of DNA bases by removing a piece of DNA. Small
deletions may remove one or a few base pairs within a gene, while larger deletions can
remove an entire gene or several neighboring genes. The deleted DNA may alter the
function of the resulting protein(s).
Gene mutations
Gene mutations

Duplication
A duplication consists of a piece of DNA that is abnormally copied one or more times.
This type of mutation may alter the function of the resulting protein.

Frameshift mutation
This type of mutation occurs when the addition or loss of DNA bases changes a gene’s
reading frame. A reading frame consists of groups of 3 bases that each code for one
amino acid. A frameshift mutation shifts the grouping of these bases and changes the
code for amino acids. The resulting protein is usually nonfunctional. Insertions,
deletions, and duplications can all be frameshift mutations.

Repeat expansion
Nucleotide repeats are short DNA sequences that are repeated a number of times in a
row. For example, a trinucleotide repeat is made up of 3-base-pair sequences, and a
tetranucleotide repeat is made up of 4-base-pair sequences. A repeat expansion is a
mutation that increases the number of times that the short DNA sequence is repeated.
This type of mutation can cause the resulting protein to function improperly.
Gene mutations
summary

Mendel discovered the basic principles of heredity by breeding garden peas.

They were, 1. Principle of Dominance, 2. Principle of Segregation and
3. Principle of Independent Assortment.

Further due to different interactions of genes, Mendel's inheritance principles

were extended and modified so as to answer multiple alleles, multiple genes
and the Environmental Impact on Phenotype.

Genetic and non genetic systems of sex determination patterns.

Sex limited, sex influenced and Sex linked inheritance patterns of sex related
inheritance.
Inbreeding and Inbreeding depression. Outbreeding and Hybrid vigor.

Gene mutations small scale mutations/ Point mutations: Missense mutation ,

Insertion , Deletion , Duplication and Repeat expansion
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Thank you