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Principles of Inheritance: Mendel's Legacy: Wouldn't It Be Nice If People Understood It Better?

Gregor Mendel conducted experiments with pea plants in the mid-19th century and discovered the principles of inheritance. Through his experiments crossing pea plants with different traits like color and shape, he determined that traits are passed from parents to offspring through discrete units (now known as genes) and that these units assort and pass to offspring independently. Mendel's work laid the foundation for genetics and is still applicable to inheritance in humans.

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Doods Galdo
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164 views

Principles of Inheritance: Mendel's Legacy: Wouldn't It Be Nice If People Understood It Better?

Gregor Mendel conducted experiments with pea plants in the mid-19th century and discovered the principles of inheritance. Through his experiments crossing pea plants with different traits like color and shape, he determined that traits are passed from parents to offspring through discrete units (now known as genes) and that these units assort and pass to offspring independently. Mendel's work laid the foundation for genetics and is still applicable to inheritance in humans.

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Doods Galdo
Copyright
© Attribution Non-Commercial (BY-NC)
Available Formats
Download as PPT, PDF, TXT or read online on Scribd
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PRINCIPLES OF

INHERITANCE:

Mendel’s Legacy

Genetics is everywhere these days – and it will continue


as a dominant force in biology and society for decades to
come.
Wouldn’t it be nice if people understood it better?
History
• Principles of genetics were developed in the mid 19th century
by Gregor Mendel an Austrian Monk
• Developed these principles without ANY scientific equipment
- only his mind.
• Experimented with pea plants, by crossing various strains and
observing the characteristics of their offspring.
• Studied the following characteristics:
– Pea color (Green, yellow)
– Pea shape (round, wrinkled)
– Flower color (purple, white)
– Plant height (tall, short)
• Made the following observations (example given is pea shape)
• When he crossed a round pea and wrinkled pea, the offspring
(F1 gen.) always had round peas.
• When he crossed these F1 plants, however, he would get
offspring which produced round and wrinkled peas in a 3:1
ratio.
The Fundamental Question

What is the relationship between genes


(genotype) and observable characteristics
(phenotype)?

The answer?

Phenotype = Genotype + Environment.


Vocabulary
• Genetics: The scientific study of heredity
• Allele: Alternate forms of a gene/factor.
• Genotype: combination of alleles an organism
has.
• Phenotype: How an organism appears.
• Dominant: An allele which is expressed (masks
the other).
• Recessive: An allele which is present but remains
unexpressed (masked)
• Homozygous: Both alleles for a trait are the same.
• Heterozygous: The organism's alleles for a trait
are different.
Genes and Environment Determine Characters

Genetically identical hydrangeas growing in soils of different acidity


(different environments).
The phenotype = genotype + environment principle applies equally to
human traits.
A Mendelian Genetic Primer

Genes come in pairs that separate in the


formation of gametes.

The members of the pair may be identical


(homozygous) or non-identical
(heterozygous).

Each form of a particular gene is an allele.


A Mendelian Genetic Primer

Only two alleles of a given gene are


possible in an individual although
many alleles of a gene are possible
within a population.
One allele is dominant over another
(or so Mendel believed).
Genes, Alleles, and Chromosomes
Mendel’s
Model
Organism –
the Garden
Pea
The Reality of “Round and Wrinkled” – Two Alternative
Traits of the Seed Shape Character

Note that each


of seed is a
new
individual of a
different
generation –
seeds are not
of the same
generation as
the plant that
bears them.
Mendel’s
Monohybrid
Cross – P to F1

A Punnett
square,
something
we’ll cover in
a moment.
Staying the Course –
Mendel Continued
Crosses to the F2 (the
grandchildren)
What was learned?
The green trait was not lost or
altered, even though it disappeared
in the F1.

One trait is dominant to the other


in its expression.

The reappearance of the recessive trait in ¼ of the F2, suggests genes come in
pairs that separate in the formation of sex cells.
Monohybrid Crosses and the Principle of Segregation

A cross between individuals differing in


single character is a monohybrid cross.

The analysis of monohybrid crosses


allowed Mendel to deduce the Principle
of Segregation ....

Genes come in pairs that separate in the


formation of sex cells (and these sex
cells unite randomly at fertilization).
Principle of Segregation Demystified

Segregation

The principle of segregation is explained by the behavior of


homologous chromosomes at meiosis.
A Punnett Square is a Handy Way of Analyzing Crosses

In a Punnett square for a monohybrid cross, the Principle of


Segregation is applied.
Different Genotypes Can Produce the Same Phenotype
Consistency
is Good

No matter what
the character,
Mendel observed
a 3:1 ratio of
characters in the
F2.
Characters investigated
by Mendel
Monohybrid Crosses Yielded Consistent Results

Therefore, the Principle of Segregation indeed is a general principle of genetics.


What Works for Peas Also Works for Humans

In the cross Aa x Aa, where A


is a dominant allele for wild
type (standard) pigmentation
and a is a recessive allele for
no pigmentation (albinism),
¾ of offspring will be wild
An albino woman type and ¼ will be albino.
Are Different Characters
Like Color and Shape
Inherited Together or
Inherited Independently?

Mendel performed
dihybrid crosses to find
out.

Mendel’s conclusion:
Different characters are
inherited independently.
Why Did Mendel Conclude That The
Inheritance of one Trait is Independent
of Another?

The alternative and


incorrect
hypothesis:
dependent
inheritance.

Because it’s the only way to explain the


pattern of inheritance.
The Punnett Square for a Dihybrid Cross

Note that we’re


simultaneously applying
the Principles of
Segregations and
Independent Assortment.
The Independent Alignment of
Different Pairs of Homologous
Chromosomes At Meiosis Accounts
for the Principle of Independent
Assortment

The alignment of one pair of


homologs is independent of any
other.

Principle of Independent Assortment:


The assortment of one pair of genes into
gametes is independent of the assortment
of another pair of genes.
What Works
for Peas Also
Works for
Humans

Consider a cross
between parents
heterozygous for
both deafness and
albinism.

This is the same


9:3:3:1 ratio seen
for Mendel’s cross
involving pea
color and shape.
Some Alleles Are Related
Through Incomplete
Dominance

Dominance relationships
may differ, but the
Principle of Segregation
remains the same.
Pleiotropy – When One Allele Influences
Many Traits
Pleiotropy in Anemia,
Action infections,
weakness,
impaired
growth, liver
and spleen
failure, death.

Traits (phenotypes)
associated with the
sickle cell allele.
Polygenic Inheritance – When a Single Trait
is Influenced by Many Genes

Height is a
polygenic trait
Multiple Alleles

Many genes are present


in 3 or more versions
(alleles) – this is known
as multiple alleles.

The human ABO blood


group is determined by three
alleles (IA, IB, and i) of a
single gene.
Codominance

The human ABO blood


group illustrates another
genetic phenomenon –
codominance.
The AB
phenotype
Codominance occurs when (genotype IA
IB) is an
the phenotype associated example of
with each allele is expressed codominance

in the heterozygote.
Chromosomes and Classical Genetics
• Walter Sutton in 1902 proposed that chromosomes
were the physical carriers of Mendel's alleles
• Problems arose however regarding the following
question:
• Why are the number of alleles which undergo
independent assortment greater than the number of
chromosomes of an organism?
• This was explained understanding of 2 additional
factors; Sex Linkage and crossing over
Sex Linkage
• All chromosomes are homologous except on sex
chromosomes.
• Sex chromosomes are either X or Y.
• If an organism is XX, it is a female, if XY it is
male.
• If a recessive allele exists on the X chromosome. It
will not have a corresponding allele on the Y
chromosome, and will therefore always be
expressed
Sex linkage example
• Recessive gene for white eye
color located on the Xw
chromosome of Drosophila.
• All Males which receive this gene
during fertilization (50%) will
express this.
• If a female receives the Xw
chromosome. It will usually not
be expressed since she carries an
X chromosome with the normal
gene
Human Sex Linkage
• Hemophilia:
– Disorder of the blood where
clotting does not occur
properly due to a faulty
protein.
– Occurs on the X chromosome,
and is recessive.
• Thus a vast majority of
those affected are males.
– First known person known to
carry the disorder was Queen
Victoria of England. Thus all
those affected are related to
European royalty.
Hemophilia and Royalty
Other Factors: Multiple Alleles
• Phenotypes are controlled by more than 1 allele. Eg. Blood types are
regulated by 3 separate genes.

• ABO Blood typing


– Humans have multiple types of surface antigens on RBC's
– The nature of these surface proteins determines a person's Blood Type.
– There are 3 alleles which determine blood type IA, IB, or IO. This is
referred to as having multiple alleles
– Human blood types are designated as A, B or O.
• Type A denotes having the A surface antigen, and is denoted by I A
• Type B denotes having the B surface antigen, and is denoted by I B
• Type O denotes having neither A or B surface antigen, and is denoted by
IO
– There are several blood type combinations possible
• A
• B
• AB (Universal recipient)
• O (Universal donor)
Blood & Immunity

• A person can receive blood only when the donor's blood type does not
contain any surface antigen the recipient does not. This is because the
recipient has antibodies which will attack any foreign surface protein.
• Thus, Type AB can accept any blood types because it will not attack A or
B surface antigens. However, a type AB person could only donate blood
to another AB person. They are known as Universal Recipients.
• Also, Type O persons are Universal donors because they have NO surface
antigens that recipients' immune systems can attack. Type O persons can
ONLY receive blood from other type O persons.
• There is another blood type factor known as Rh.
• People are either Rh+ or Rh- based on a basic dominant/recessive
mechanism.
• Not usually a problem except with pregnancy.
• It is possible that an Rh- mother can carry an Rh+ fetus and develop
antibodies which will attack & destroy the fetal blood
• This usually occurs with 2nd or 3rd pregnancies, and is detectable and
treatable.
Other Factors: Incomplete Dominance
• Some alleles for a
gene are not
completely
dominant over the
others. This
results in partially
masked
phenotypes which
are intermediate
to the two
extremes.
Other Factors: Continuous Variation

• Many traits may


have a wide
range of
continuous
values. Eg.
Human height
can vary
considerably.
There are not
just "tall" or
"short" humans
Other Factors
• Gene interaction:
– Many biological pathways are governed by multiple
enzymes, involving multiple steps. If any one of these
steps are altered. The end product of the pathway may
be disrupted.

• Environmental effects:
– Sometimes genes will not be fully expressed owing to
external factors. Example: Human height may not be
fully expressed if individuals experience poor nutrition.

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