Mendel and the Gene Idea

PowerPoint Lectures for

Biology, Seventh Edition
Neil Campbell and Jane Reece

Lectures by Chris Romero

Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
 • Gregor Mendel (1822-1884), German, Mathematician & Physicist

– Documented a particulate mechanism of inheritance through his experiments with garden peas

Mendel used the scientific approach to identify the

laws of inheritance
Mendel discovered the basic principles of heredity
By breeding garden peas in carefully planned
experiments
Mendel chose to work with peas (Pisum sativum)
Because they are available in many varieties
Because he could strictly control which plants
mated with which.
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• Some genetic vocabulary

– Character: a heritable feature, such as flower color

– Trait: a variant of a character, such as purple or white flowers

• Mendel chose to track only those characters that varied in an “either-or” manner

• Mendel also made sure that he started his experiments with varieties that were
“true-breeding” (Homozygous genes =same phenotype as parent)

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 Useful Genetic Vocabulary
• An organism that is homozygous for a particular gene

– Has a pair of identical alleles for that gene

– Exhibits true-breeding

• An organism that is heterozygous for a particular gene Allele is a variant (alternative) of gene
controlling a particular trait
Alleles are a pair of genes that occupy a
– Has a pair of alleles that are different for that gene specific location on a particular
chromosome and control the same trait.

• An organism’s phenotype

– Is its physical appearance

• An organism’s genotype

– Is its genetic makeup

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• In a typical breeding experiment

– Mendel mated two contrasting, true-breeding

varieties, a process called hybridization

• The true-breeding parents are called the P generation

• The hybrid offspring of the P generation are called the

F1 generation

• When F1 individuals self-pollinate, the F2 generation is

produced
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 • Crossing pea plants
1 Removed stamens
from purple flower
2 Transferred sperm-
bearing pollen from
TECHNIQUE
stamens of white
flower to egg-
APPLICATION By crossing (mating) two true- bearing carpel of
breeding varieties of an organism, scientists can purple flower
study patterns of inheritance. In this example,
Mendel crossed pea plants that varied in flower Parental
generation
color. (P)
Stamens
Carpel (male)
3 Pollinated carpel (female)
matured into pod
RESULTS

When pollen from a white flower fertilizes

4 Planted seeds
eggs of a purple flower, the first-generation hybrids from pod
all have purple flowers. The result is the same for
the reciprocal cross, the transfer of pollen from 5 Examined
First offspring:
purple flowers to white flowers. generation all purple
offspring flowers
(F1)

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 • Mendel discovered
– A ratio of about three to one, purple to white flowers, in the F 2 generation
EXPERIMENT True-breeding purple-flowered pea
plants and white-flowered pea plants were crossed P Generation

(symbolized by ). The resulting F1 hybrids were (true-breeding Purple
White
parents) Flowers (
allowed to self-pollinate or were cross-pollinated with Flowers (pp)
(PP)

other F1 hybrids. Flower color was then observed

F1 Generation
in the F2 generation. (hybrids)
RESULTS Both purple-flowered plants and white- (Pp)All plants had
purple flowers
flowered plants appeared in the F2 generation. In
Mendel’s experiment, 705 plants had purple F2 Generation
(Pp x Pp)
flowers, and 224 had white flowers, a ratio of about
3 purple : 1 white.

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 • Phenotype versus genotype

Phenotype Genotype
Purple PP
1
(homozygous)

Pp
3 Purple (heterozygous)
2
Pp
(heterozygous)
Purple

pp
1 White 1
(homozygous)
Ratio 3:1 Ratio 1:2:1
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Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
 The Law of Dominance (Monohybrids)

• When Mendel crossed contrasting, true-breeding white and

purple flowered pea plants 1.The law of dominance states that
when parents with pure, contrasting
traits are crossed together, only one
form of the trait appears in the next
– All of the offspring were purple generation.
2.The trait which appears in the next
generation is known as a dominant
trait.
• When Mendel crossed the F1 plants 3.The trait that do not express is
called a recessive trait.

– Many of the plants had purple flowers, but some had white
flowers

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 P Generation White
Red
• Incomplete dominance (Monohybrids)
CRCR
 CWCW

– The phenotype of F1 hybrids is somewhere Gametes CR CW

between the phenotypes of the two parental

Pink
varieties F1 Generation CRCW

– 1:2:1 g&p f1
1
⁄2 1
⁄2 CW
Gametes C
R

Incomplete dominance is a form of

gene interaction in which both alleles Eggs
1
⁄2 CR 1⁄2 CW Sperm
of a gene at a locus are partially F2 Generation 1
⁄2 CR
expressed, often resulting in an CR CR CR CW
1
⁄2 Cw
intermediate or different CR CW CW CW
phenotype.
When neither of the allele is
completely
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publishing as Benjamin Cummings (incomplete)
 Codominance (Monohybrids)

• The ABO blood group in

humans
– Is determined by
multiple alleles
Co-dominance is the type of dominance
where the offspring show similarity to both
the parents and it is due to the blending of
alleles. (No masking of alleles)

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 Law of segregation (Purity of gametes -
Dihybrids)
• Mendel developed a hypothesis

– To explain the 3:1 inheritance pattern that he observed among the

F2 offspring

• Four related concepts make up this model

1. Alternative versions of genes account for variations in inherited characters, which are now called alleles

2. For each character an organism inherits two alleles, one from each parent. A genetic locus is actually
represented twice

3. If the two alleles at a locus differ then one, the dominant allele, determines the organism’s appearance. The other
allele, the recessive allele, has no noticeable effect on the organism’s appearance

4. Law of segregation: The two alleles for a heritable character separate (segregate) during gamete
formation and end up in different gametes

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 • For each character, a
individual inherits 2 copies
of gene
• Alternative versions of
genes are called as alleles
• One is dominant other is
recessive
• Alleles separate during
gamete formation

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 The Law of Independent Assortment
• Mendel derived the law of segregation by following a single trait

• The F1 offspring produced in this cross were monohybrids, heterozygous for one character

• Mendel identified his second law of inheritance by following two characters at the same time

• Crossing two, true-breeding parents differing in two characters produces dihybrids in the F 1
generation, heterozygous for both characters

• How are two characters transmitted from parents to offspring?

– As a package?

– Independently?

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 • Using the information from a dihybrid cross, Mendel developed

The law of independent assortment which is:

– Each pair of alleles segregates independently during gamete

formation

• The laws of probability govern Mendelian inheritance

• Mendel’s laws of segregation and independent assortment r eflect

the rules of probability

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 • Whether the alleles of different genes are transmitted together
during gamete formation?
• Will R and Y always be transmitted together?

• Will r and y always be transmitted together?

• Or the alleles of different genes are transmitted independently of

each other?

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 • A dihybrid cross

– Illustrates the inheritance of two characters

• Produces four phenotypes in the F2 generation

EXPERIMENT Two true-breeding pea plants— P Generation YYRR yyrr
one with yellow-round seeds and the other with
green-wrinkled seeds—were crossed, producing Gametes YR  yr
dihybrid F1 plants. Self-pollination of the F 1 dihybrids,
which are heterozygous for both characters, F1 Generation Hypothesis of YyRr Hypothesis of
produced the F2 generation. The two hypotheses dependent independent
assortment assortment
predict different phenotypic ratios. Note that yellow Sperm
color (Y) and round shape (R) are dominant. Sperm
1
⁄4 YR 1
⁄4 Yr 1
⁄4 yR 1
⁄4 yr
Eggs
RESULTS 1
⁄2 YR 1
⁄2 yr
1
⁄4 YR
Eggs YYRR YYRr YyRR YyRr
F2 Generation1 ⁄2 YR
YYRR YyRr 1
⁄4 Yr
(predicted YYRr YYrr YyRr Yyrr
offspring) 1
⁄2 yr
CONCLUSION The results support the hypothesis of YyRr yyrr 1
⁄4 yR
independent assortment. The alleles for seed color and seed YyRR YyRr yyRR yyRr
3
⁄4 1
⁄4
shape sort into gametes independently of each other. 1
⁄4 yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9
⁄16 3
⁄16 3
⁄16 1
⁄16
The inheritance of one trait does not influence the Phenotypic ratio 9:3:3:1

inheritance of other trait Figure 14.8 315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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 The Testcross
• In pea plants with purple flowers
– The genotype is not immediately obvious

• A testcross
– Allows us to determine the genotype of an organism with the
dominant phenotype, but unknown genotype
– Crosses an individual with the dominant phenotype with an
individual that is homozygous recessive for a trait

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 • The testcross
APPLICATION An organism that exhibits a dominant trait,
such as purple flowers in pea plants, can be either
homozygous for the dominant allele or heterozygous. 
To determine the organism’s genotype, geneticists can Dominant phenotype, Recessive phenotype,
perform a testcross. unknown genotype: known genotype:
TECHNIQUE In a testcross, the individual with the
PP or Pp? pp
unknown genotype is crossed with a homozygous
individual expressing the recessive trait (white flowers
in this example). By observing the phenotypes of the If PP, If Pp,
offspring resulting from this then all offspring then ⁄2 offspring purple
1

cross, we can deduce the genotype of the purple- purple: and 1⁄2 offspring white:
flowered parent.
p p p p
RESULTS
P P
Pp Pp Pp Pp
P p
Pp Pp pp pp

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 Integrating a Mendelian View of Heredity and Variation

• An organism’s phenotype
– Includes its physical appearance, internal anatomy, physiology, and behavior

– Reflects its overall genotype and unique environmental history

• Many human traits follow Mendelian patterns of inheritance

• Humans are not convenient subjects for genetic research

– However, the study of human genetics continues to advance

• Even in more complex inheritance patterns

– Mendel’s fundamental laws of segregation and independent assortment still
apply
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 • If coat color and coat texture are
controlled by two genes that assort
independently, what fraction of
the F2 puppies are expected to have
yellow, straight fur?

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Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
 The Chromosomal Basis of Sex
• An organism’s sex

– Is an inherited phenotypic character determined by the presence or

absence of certain chromosomes 44 + Parents 44 +
XY XX
• In humans and other mammals
• There are two varieties of sex
22 + Sperm 22 + Ova 22 +
chromosomes, X and Y X Y XX

44 + Zygotes 44 +
XX (offspring) XY

(a) The X-Y system

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Copyright © 2005 Pearson Education, Inc. publishing as Benjamin Cummings
 The transmission of sex-linked Inheritance Traits
• Sex-linked genes (X-linked recessive inheritance) Any alteration in a gene on the X
chromosome can have more impact
• Mainly inherited from their unaffected mother on the boy Eg. Colour blindness

(a)

(b) If a carrier mates with a male of normal phenotype, there is

a 50% chance that each daughter will be a carrier like her
mother, and a 50% chance that each son will have the
disorder.
(c) If a carrier mates with a male who has the disorder, there is
a 50% chance that each child born to them will have the
disorder, regardless of sex. Daughters who do not have the
disorder will be carriers, where as males without the
disorder will be completely free of the recessive allele.

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 • Suppose a normal vision man has children's with a woman who
is colour blind. Using punnet square, find the probability of male
children having colour blindness?

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 • Some recessive alleles found on the X chromosome in humans cause certain
types of disorders
– Color blindness x rec

– Duchenne muscular dystrophy – x rec

– Hemophilia – x rec

X inactivation in Female Mammals

• In mammalian females

– One of the two X chromosomes in each cell is randomly inactivated during

embryonic development

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 Chromosomal Aberration and Genetic Disorder

• Alterations of chromosome number or structure cause some genetic disorders

• Large-scale chromosomal alterations
• Often lead to spontaneous abortions or cause a variety of developmental
disorders

Abnormal Chromosome Number

• When nondisjunction (Failure of chromosomesto separate) occurs

– Pairs of homologous chromosomes do not separate normally during meiosis

– Gametes contain two copies or no copies of a particular chromosome

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 Meiotic nondisjunction
Gametes with an abnormal chromosome number can
arise by nondisjunction in either meiosis I or meiosis II
• Aneuploidy
– Results from the fertilization of gametes Meiosis I

in which nondisjunction occurred

Nondisjunction

– Is a condition in which offspring have an Meiosis II

abnormal number of a particular

chromosome Nondisjunction

Gametes
• If a zygote is trisomic
It has three copies of a particular chromosome n+1 n+1 n1 n–1 n+1 n –1 n n

• If a zygote is monosomic Number of chromosomes

(a) Nondisjunction of homologous (b) Nondisjunction of sister

chromosomes in meiosis I chromatids in meiosis II
It has only one copy of a particular chromosome
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 Alterations of Chromosome Structure
• Breakage of a chromosome can lead to four types of changes in
chromosome structure
A B C D E F G H A B C E F G H
(a) A deletion removes a chromosomal Deletion
segment.
– Deletion
A B C D E F G H A B C B C D E F G H
(b) A duplication repeats a segment. Duplication
– Duplication

– Inversion A B C D E F G H A D C B E F G H
(c) An inversion reverses a segment within Inversion
a chromosome.

– Translocation (d) A translocation moves a segment from

one chromosome to another,
nonhomologous one. In a reciprocal A B C D E F G H M N O C D E F G H
translocation, the most common type,
Reciprocal
nonhomologous chromosomes exchange
translocation
fragments. Nonreciprocal translocations
also occur, in which a chromosome M N O P Q R A B P Q R
transfers a fragment without receiving a
fragment in return.

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 Down Syndrome
– Is usually the result of an extra chromosome 21, trisomy
21
– autosomal

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 Pedigree Analysis to analyse inheritance of a particular trait
• A pedigree
– Is a family tree that describes the interrelationships of parents and children across
generations
• Inheritance patterns of particular traits (relates to the parents, offsprings & siblings)
– Can be traced and described usingFirst generation
pedigrees
Ww ww ww Ww (grandparents) Ff Ff ff Ff

Second generation
Ww ww ww Ww Ww ww (parents plus aunts FF or Ff ff ff Ff Ff ff
and uncles)
Third
WW ww generation ff FF
or (two sisters) or
Ww Ff

Widow’s peak No Widow’s peak Attached earlobe Free earlobe

(a) Dominant trait (widow’s peak) (b) Recessive trait (attached earlobe)
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