MENDELIAN

INHERITANCE

Chapter 2
 INTRODUCTION
• The concept of heredity is ancient
– Dates back to at least 400 b.c.
• Our understanding of genetics is rather recent
– Gregor Mendel’s work began only 150 years ago
• Many inaccurate views of heredity were held prior
to Mendel’s time

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 GREGOR JOHANN MENDEL
• 1822 – 1884
• Father of genetics
• Augustinian monk
– Austria, now Czech Republic
• Training in
– Agriculture
– Scientific method
– Mathematics
– Statistical analysis
– Studied inheritance in garden peas
• Pisum sativum

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 GARDEN PEAS
• Several properties made Pisum sativum a
superb model organism for genetic analysis
– Available in many varieties
– Easy to maintain
– Control over mating
– Short generation time
– Numerous offspring
– No major ethical issues
– Findings applicable to
other organisms

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 FLOWER STRUCTURE
• Most flowers are
simultaneously both
male and female
– Carpels are female
structures (♀)
• Produce eggs
– Stamen are male
structures (♂)
• Produce sperm

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 FLOWER STRUCTURE
• Pollination involves
the transmission of
sperm-containing
pollen to a (female)
stigma
– Fertilization follows
successful pollination
– Self-pollination and
cross-pollination are
both possible

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 FLOWER STRUCTURE
• Structure of a pea flower
– Produces both pollen and egg cells
– Reproductive structures enclosed by a modified
petal
• “Keel”
– Self-pollination
is the rule, not
the exception

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 MENDEL’S EXPERIMENTS
• Mendel obtained several varieties of peas
– Differences between varieties were confined to one
(or more) of seven different traits
• e.g., Purple or white flowers
• e.g., Yellow or green seeds

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MENDEL’S EXPERIMENTS

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 MENDEL’S EXPERIMENTS
• Mendel began his experiments with true-
breeding lines
– Traits did not vary in appearance between
generations
– e.g., White-flowered lines that produced only
white-flowered offspring for many generations

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 MENDEL’S EXPERIMENTS
• Mendel’s first crosses involved a single trait
– Two variants existed for each trait
• e.g., Purple and white are two forms of the flower color
trait
• Purple and white are two phenotypes for flower color

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 MENDEL’S EXPERIMENTS
• True-breeding purple x true-breeding white
– Parental generation
– Stamen (♂) removed from “female”
– Pollen transfer
• Cross-fertilization
– Seeds are offspring
• F1 generation
• Single-trait hybrids
• “Monohybrids”

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 MENDEL’S EXPERIMENTS
• True-breeding purple x true-breeding white
– F1 monohybrids are produced
– F1 monohybrids all possess purple flowers
• White flowers are absent

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 MENDEL’S EXPERIMENTS
• F1 monohybrids are allowed to self-pollinate
– “Monohybrid cross”
– F2 generation is
produced
• Both phenotypes are
present in the F2
generation

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 MENDEL’S EXPERIMENTS
• Mendel obtained similar results for
each of the seven traits he studied
– One phenotype disappeared in the F1 generation
– This recessive phenotype reappeared in approximately
¼ of the F2 individuals
• 3:1 phenotypic ratio

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 MENDEL’S CONCLUSIONS
• Mendel’s results argued strongly against a
blending mechanism of heredity
– F1 individuals have the characteristics of one parent,
not intermediate characteristics
• Units of heredity are discrete units
– Now called genes
• Mendel’s Law of Segregation explained these
results
– Described the particulate nature of inheritance

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 LAW OF SEGREGATION
• Alternative versions of genes account for variations
in inherited characteristics
– These alternative versions of genes are termed alleles

– The flower color gene exists in two forms

• Purple allele
• White allele

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 LAW OF SEGREGATION
• For each character, an organism inherits two
alleles, one from each parent
– Diploid organisms possess two copies of each
chromosome
• Genes reside upon chromosomes
– A gene’s position on a chromosome is called its locus
• Diploid organisms possess two copies of each gene
– Paired chromosomes  paired alleles
– Each parent donates one copy of each chromosome
• Each parent donates one copy of each gene

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 LAW OF SEGREGATION
• For each character, an organism inherits two
alleles, one from each parent
– These alleles may be either identical or non-
identical

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 LAW OF SEGREGATION
• If these two alleles differ
– The allele that is visibly apparent is termed dominant
– The allele that is masked is termed recessive

– P = purple allele (dominant)

– p = white allele (recessive)
• PP  purple flowers
• Pp  purple flowers
• pp  white flowers

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 LAW OF SEGREGATION
• The two alleles for each character segregate
during gamete production
– Gametes are formed by meiosis
• Meiosis separates homologous chromosomes
• Meiosis separates pairs of alleles
– Each gamete receives only one allele of each gene

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 MENDEL’S EXPERIMENTS
• Parental generation
– True-breeding
– Possess identical alleles
– “Homozygous” for the relevant gene
• e.g., Genotype “AA” or “aa”
• F1 generation
– Hybrids
– Possess non-identical alleles
– “Heterozygous” for the relevant gene
• e.g., “Aa”
• F2 generation
– Both phenotypes present

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 PUNNETT SQUARES
• A Punnett square can be used to determine the
genotypes of potential offspring from a given
mating
– Genotypes of female gametes listed on one axis
– Genotypes of male gametes listed across other axis
– Offspring inside boxes
• Products of fertilizations

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 MENDEL’S EXPERIMENTS
• Individuals with the dominant phenotype may
be either homozygotes or heterozygotes
– 1/3 of the purple- flowered plants are expected to
be homozygous dominant
– 2/3 of the purple-flowered plants are expected to
be heterozygous

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 TEST CROSS
• A test cross can be used to determine the genotype
of an individual with the dominant phenotype
– This individual is crossed to a recessive homozygote
– Phenotypes of offspring will uncover the genotype of
the parent

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 MULTIPLE CHARACTERISTICS
• Mendel also analyzed crosses involving two
different traits
– Simultaneously investigated the pattern of
inheritance for two different traits
• e.g., Seed color and seed texture
– Two-factor crosses
• Dihybrid crosses

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 INDEPENDENT ASSORTMENT
Mendel’s Law of Independent Assortment
• Two pairs of alleles segregate independent of
each other during gamete formation
– The segregation of alleles for seed color has no effect
on the segregation of alleles for seed shape etc.

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 LOSS-OF-FUNCTION ALLELES
• Most genes encode proteins
– Mendel studied seven protein-encoding genes
– The recessive alleles of these genes were defective
• Rendered inactive by mutation
• Did not encode a functional protein
• “Loss-of-function alleles”
• Provide critical clues concerning the function of the
encoded protein

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• end

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