Essentials of Genetics

Tenth Edition

Chapter 4
Modification of
Mendelian
Ratios

Copyright © 2020, 2016, 2012 Pearson Education, Inc. All Rights Reserved
Introduction (1 of 3)

• Mendelian genetics has two postulates:

• Genes are present on homologous chromosomes.
• Chromosomes segregate from each other and assort
independently during gamete formation.
• Ratios modified when gene expression does not:
• Adhere to simple dominant/recessive mode or
• When more than one pair of genes influences
expression of a single character:
• Classic ratios are 3∶1 and 9∶3∶3∶1.
Introduction (2 of 3)

• In diploid organisms, with homologous pairs of

chromosomes, two copies of each gene influence the
inheritance of traits.
• Copies of genes need not be identical:
• Alleles occur within population.
Introduction (3 of 3)

• Genes on X and Y chromosomes:

• Genes X chromosome illustrate X-linkage.
• Modified Mendelian ratios also include:
• Sex-limited and sex-influenced inheritance (not
necessarily genes on the X chromosome) influencing
phenotype.
• Expression of traits can vary depending on the overall
environment to which gene, cell, or organism is exposed.
• Extranuclear inheritance involves DNA within organelles
influencing an organism’s phenotype.
4.1 Alleles Alter Phenotypes in
Different Ways
Various Modes of Inheritance

• Alleles: Alternative forms of same gene:

• Wild-type (normal): Allele that occurs more frequently
in population:
• May often, but not always, be dominant.
• Mutations: Source of alleles:
• Mutant allele contains modified genetic information
and often specifies an altered gene product.
Changes in Functional Activity (1 of 2)

• New phenotypes result from changes in functional

activity of cellular product specified by gene:
• Loss-of-function mutation
• Gain-of-function mutation
• Neutral mutation
• Note that phenotypic trait may be affected by a single
mutation in one gene.
Changes in Functional Activity (2 of 2)

• Loss-of-function mutation:
• Mutation in gene causes change in conformation enzyme,
thus, changing affinity:
• If loss is complete → mutation results in null allele.

• Gain-of-function mutation:
• Some mutations may enhance function of wild-type
allelic function:
• Increases quantity of gene product by affecting
regulation of transcription of gene.
• Neutral mutation:
• The gene product presents no change to phenotype.
4.2 Geneticists Use a Variety of
Symbols for Alleles
Symbolizing Alleles

• Symbolizing alleles—Standard convention:

• Initial letter of recessive trait lowercase and
italicized—denotes recessive allele.
• Uppercase refers to dominant allele.
• Dwarf is recessive: d.
• Tall is dominant: D.
Drosophila Melanogaster
• Drosophila: Initial letter or combination of two to three letters of
mutant name is used.
• Body color: Ebony mutant phenotype is indicated by e:
• Normal gray (wild-type) is indicated by e+ :
• e+ e+ : gray homozygote (wild type)
• e+ e : gray heterozygote (wild type)
• e e : ebony homozygote (mutant)
or
• + + : gray homozygote (wild type)
• + e : gray heterozygote (wild type)
• e e : ebony homozygote (mutant)
No Dominance

• Variation is used when no dominance exists between

alleles:
• Uppercase italic letters and superscripts used to
denote alternative alleles.

• R1 and R 2 , LM and LN , I A and I B .

Diverse Genetic Nomenclature

• Diverse systems of genetic nomenclature:

• Used to identify genes in various organisms.
• Symbol used reflects function of gene or disorder
caused by mutant gene.
Examples of Diverse Genetic
Nomenclature
• Yeast: cdk represents cyclin dependent kinase
gene—product involved in cell-cycle regulation.
• Bacteria: leu − refers to mutation—interrupts
biosynthesis of amino acid leucine, wild-type gene
designated leu + .

• Symbol dnaA: Represents bacterial gene involved in

DNA synthesis.
• Humans: Capital letters used to name genes:
• BRCA1—Gene associated with breast cancer.
 4.3 Neither Allele Is Dominant in
Incomplete, or Partial, Dominance
Dominance: Incomplete and Partial (1 of 2)

• Intermediate phenotype:
• Results from cross between parents with contrasting
traits.
• Incomplete or partial dominance:
• Neither allele is dominant.
• See Figure 4.1.
Dominance: Incomplete and Partial (2 of 2)

• Incomplete dominance in snapdragons

• Red snapdragon crossed with white snapdragon:
• F1 offspring: pink flowers
1 1 1
• F2 generation: red, pink, and white
4 2 4
• Phenotypic and genotypic ratios are the same:
• Each genotype has its own phenotype.
 Figure 4.1
Incomplete dominance
shown in the flower color of
snapdragons.
Incomplete Dominance—Humans

• Tay–Sachs disease—human biochemical disorder:

• Homozygous recessives affected by fatal lipid-storage
disorder.
• Hexosaminidase A activity absent:
• Enzyme involved in lipid metabolism
• Normal heterozygotes: one copy of mutant gene:
1
• wt enzyme activity compared to homozygous
2
normal noncarriers.
4.4 In Codominance, the Influence
of Both Alleles in a Heterozygote Is
Clearly Evident
Codominance

• Codominance:
• Two alleles of single gene produce two gene products.
• Joint expression of both alleles in heterozygote.
• No dominance or recessiveness.
Codominance: MN Blood Group

• MN blood group in humans:

• Characterized by antigen glycoprotein: found on
surface of red blood cells.
• Two forms of glycoprotein exist, designated M and N.
• Individual may exhibit either one or both.
• MN system is under control of autosomal locus on

chromosome 4 and two alleles LM LN .

MN Blood Group

Genotype Phenotype

LM LM
upper L superscript upper M baseline upper L superscript upper M.

LM LN
upper L superscript upper M baseline upper L superscript upper N.N

MN

LN LN
upper L superscript upper N baseline upper L superscript upper N.

• Mating between two heterozygous MN individuals may

produce children with all three blood types.
• Codominant inheritance: Distinct expression of gene
products of both alleles:
• Incomplete dominance: Intermediate, blended
phenotype.
4.5 Multiple Alleles of a Gene May
Exist in a Population
Multiple Alleles

• Multiple alleles:
• Three or more alleles of the same gene.
• Resulting mode of unique inheritance.
• Can only be studied in populations.
ABO Blood Groups

• Human ABO blood groups:

• Example of multiple alleles.
• A and B antigens present on surface of red blood cells.
• Three alleles of a single gene responsible for ABO
phenotypes.
ABO Blood Group: Antisera Studies

• Antisera studies: Antisera contain antibodies against A

or B antigen and reveal four phenotypes.
ABO Blood Type: Alleles

• Three alleles designed:

• I A allele
• I B allele
• i allele
A B
• I and I allele: Produce their respective antigens.
• i allele : Does not produce antigen.
A
• I and I
B
are dominant to i.

• I and I
A B
are codominant to each other.
The Bombay Phenotype

• Both A and B antigens are derived from precursor

molecule H substance.
• Bombay Phenotype:
• Due to incomplete formed H substance:
• Rare recessive mutation at locus.
• Results in inadequate substrate for enzyme.
• Due to rare mutation in gene FUT1:
• FUT1 gene encodes enzyme fucosyl transferase.
Bombay Phenotype Example

• Bombay phenotype: Type O female, yet…

• One parent has type AB blood and female is I B allele
donor to two children.

• Female homozygous for FUT1 at fucosyl transferase

locus:
• Prevents her from producing H substance.
• No substrate to make A or B antigens.
• Her ABO blood group behaves as type O yet
genetically she is type B.
• See Figure 4.2.
Figure 4.2

A partial pedigree of a woman with the Bombay phenotype.

Functionally, her ABO blood group behaves as type O.
Genetically, she is type B.
Family pedigree showing inheritance of Bombay allele
The White Locus in Drosophila

• Drosophila:
• Many alleles known at practically every locus.
• Recessive mutation that causes white eyes
discovered in 1912; has over 100 alleles that occupy
this locus.
• Eye colors range from complete absence of pigment to
deep ruby to orange to buff.
4.6 Lethal Alleles Represent
Essential Genes
Lethal Alleles

• Lethal alleles are essential genes:

• Required for organism’s survival.
• Mutations resulting in nonfunctional gene product can
be tolerated if heterozygous:
• One wild-type allele is sufficient for survival.
• Homozygous recessive will not survive.
• Mutation behaves as recessive lethal allele.
• Recessive lethal alleles result in homozygous
recessive individuals and do not survive.
Homozygous Lethal Alleles

• Some homozygous lethal alleles may result in a

distinctive mutant phenotype.
• Mutation in mice causes yellow coat color; varies from
normal agouti (wild-type) coat phenotype:
• Crosses between two strains lead to several
phenotypes.
• Homozygous yellow coats are lethal in mice:
• Mice die before birth.
• See Figure 4.3.
Allele Behavior

• Agouti gene in mice (coat color):

• Agouti allele A
• Mutant yellow allele AY
• Mutant allele ( AY ) :
• Behaves dominantly to normal allele to control coat
color.
• Behaves as homozygous recessive lethal allele.
• Genotype AY AY does not survive.
Figure 4.3
An agouti and a yellow mouse.
Dominant Lethal Allele

• Dominant lethal allele:

• Presence of one copy of allele results in death.
• Mutation behaves as dominant lethal allele.
• Example is Huntington disease.
• Huntington disease:
• Allele H.
• Onset of disease in heterozygotes (Hh) delayed.
• Late onset around age 40.
• Gradual nervous and motor degeneration.
4.7 Combinations of Two Gene Pairs
with Two Modes of Inheritance
Modify the 9:3:3:1 Ratio
Two Modes of Inheritance Occurring
Simultaneously

• Different modes of inheritance combined:

• Result in many variants of modified ratios.
• Example:
• Two heterozygotes mate.
• Both autosomal recessive for albinism.
• Both blood type AB.
• Albinism inherited Mendelian style.

• Blood types via three multiple alleles: I A ,I B , and ii .

• Dihybrid ratio yielded is not classic 9∶3∶3∶1.
• See Figure 4.4.
 Figure 4.4
Calculation of the mating
probabilities involving the ABO
blood type and albinism in
humans, using the forked-line
method.
4.8 Phenotypes Are Often Affected
by More Than One Gene
Phenotypes Under Control of Several
Genes

• Phenotypic characters are influenced by many different

genes and their products.
• Gene interaction:
• Several genes influence a particular characteristic:
• Not necessarily due to interaction of genes with
each other.
• Cellular function of numerous gene products
contributes to development of common phenotype.
Epigenesis

• Epigenesis:
• Example: Eye formation—shape, texture, and color:
• Each step of development increases complexity of
sensory organ.
• Under control of one or more genes.
• Example: Hereditary deafness:
• Mutations interrupt steps in ear development.
• Influences by many genes—multiple gene
interaction.
• Mutant phenotype described as heterogeneous trait.
Epistasis

• Epistasis:
• Expression of one gene or gene pair masks/modifies
effect of another gene pair.
• Gene masks phenotypic effects of another gene.
• Example: Bombay phenotype.
Epistasis—Bombay Phenotype

• Bombay phenotype:
• Homozygous recessive condition.
• First locus masks expression of second locus.
• Mutant FUT1 gene masks expression of I A and I B
alleles.
• A and B antigen forms only when individual has one
wild-type allele.
• See Figure 4.5.
 Figure 4.5
The outcome of a mating
between individuals who are
heterozygous at two genes
determining their ABO blood
type. Final phenotypes are
calculated by considering both
genes separately and then
combining the results using the
forked-line method.
Effects of Epistasis

• Gene interaction reveals inheritance patterns that modify

9∶3∶3∶1 ratio.
• Epistasis has effect on one or more of four phenotypic
categories (Figure 4.6):
• Inheritance is discontinuous.
• Genes are not linked.
• Complete dominance exists between alleles.

• All P1 crosses involving homozygotes/ F1 are

heterozygous
• F2 is focus of analysis.
Figure 4.6
Generation of the various modified dihybrid ratios from the
nine unique genotypes produced in a cross between
individuals who are heterozygous at two genes.
Recessive Epistasis

• Example: Inheritance of mice coat color (Figure 4.7):

• B allele: Black pigment
• A allele: Agouti phenotype
• aa genotype: All black
• bb genotype: No black pigment, even if A or a alleles
present:
• Mouse is albino.
• bb genotype masks expression of A allele =
recessive epistasis.
 The basis of modified dihybrid F2 phenotypic ratios, resulting from crosses

Figure 4.7 between doubly heterozygous F1 individuals. The four groupings of the F2
genotypes shown in Figure 4.6 and across the top of this figure are combined in
various ways to produce these ratios.
Dominant Epistasis

• Dominant epistasis:
• Dominant allele at one loci masks an allele at second
loci.
• Example: Summer squash fruit color:
• Dominant allele A = white fruit:
• Regardless of second loci allele
• Absence of A allele = yellow fruit:
• Genotypes aa, BB, Bb = yellow fruit
• Genotype bb = green
• Crossing two heterozygotes results in a 12∶3∶1
modified ratio.
Complementary Gene Interaction

• Complementary gene interaction:

• Third type of gene interaction (Figure 4.7, case 3):
• Crossing of two true-breeding strains of white-
flowered sweet peas → F1 all purple, F2 9
16
7
purple and white.
16

• At least one dominant allele for each locus needed

for purple flowers—ensures proper biochemical
conversions.
Novel Phenotypes (1 of 2)
• Disc-shaped fruit (AABB) crossed with long fruit (aabb).

• F1 : All disc-shaped fruit.

• F2 : Includes parental phenotypes and spherical variants in 9∶6∶1

ratio:

• 9 A—B— disc
16
3 aaB— sphere
• 3 A—bb sphere,
16 16

• 1 aabb long
16
• Both gene pairs influence fruit shape equally.
• See Figure 4.8.
Figure 4.8

Summer squash exhibiting the fruit-shape phenotypes disc,

long, and sphere.
Novel Phenotypes (2 of 2)

• Disc fruits:
• Require dominant alleles at both loci.
• Sphere fruits:
• Require dominant allele at one/either locus.
• Long fruits:
• Occur when no dominant alleles at either locus.
Other Modified Dihybrid Ratios

• Figure 4.7:
• Cases 5–8 illustrates additional examples of gene
interactions.
• All cases have commonality:
• Principles of segregation and independent
assortment followed.
• F2 phenotypic ratio has expressed in sixteenths.
4.9 Complementation Analysis Can
Determine If Two Mutations Causing
a Similar Phenotype Are Alleles of
the Same Gene
Complementation Analysis

• Complementation analysis:
• Determines if two mutations are in the same gene.
• Cross two mutant strains and observe F1 generation.

• See Figure 4.9.

• Complementation group:
• All mutations present in any single gene.
• Will complement mutations in all other groups.
 Complementation analysis of alternative outcomes of two wingless

Figure 4.9 mutations in Drosophila (ma and mb ). In Case 1, the mutations

are not alleles of the same gene, whereas in Case 2, the mutations
are alleles of the same gene.
4.10 Expression of a Single Gene
May Have Multiple Effects
Single Gene—Multiple Phenotypic Effects
(1 of 2)

• Pleiotropy:
• Expression of single gene has multiple phenotypic
effects.
• Example: Marfan syndrome:
• Autosomal dominant mutation in gene encoding
connective tissue protein fibrillin.
• Results in multiple phenotypic effects.
• Affects eyes, aorta, bones, and other tissues.
Single Gene—Multiple Phenotypic Effects
(2 of 2)

• Example: Porphyria variegate:

• Autosomal disorder.
• Inadequate metabolism of porphyrin results in toxic
buildup of porphyrins in body.
• Numerous phenotypic effects:
• Abdominal pain, muscular weakness, fever, racing
pulse, insomnia, vision issues.
4.11 X-Linkage Describes Genes on
the X Chromosome
X-Linkage

• Genes present on X chromosome sex of animals and

plants determined by unlike chromosomes X and Y.
• Exhibit unique patterns of inheritance compared to
autosomal genes.
• Results in modification of Mendelian ratios.
X-Linkage in Drosophila

• Thomas Hunt Morgan (1920):

• Showed X-linked inheritance in studies of white-eyed
mutation in Drosophila.
• Inheritance pattern clearly related to sex of parent
carrying mutant allele.
• Study concluded that white locus is present on X
chromosome and not autosomes.
• Reciprocal crosses between white-eyed and red-eyed
flies did not yield identical results.
• See Figure 4.10.
Figure 4.10

The F1 and F2 results of T. H.

Morgan’s reciprocal crosses

involving the X-linked white
mutation in Drosophila
melanogaster. The actual F2

data are shown in parentheses.

Photographs of red and white eyes
are shown in Chapter 1, Figure 1.3.
X-Linked Inheritance

• Genes present on X chromosome:

• Exhibit unique patterns of inheritance due to presence
of only one X chromosome in males and two in
females.
• Since Y chromosome lacks homology with most
genes on X chromosome:
• Alleles present on X chromosome of male will be
expressed.
• Males cannot be homozygous or heterozygous but are
hemizygous (Figure 4.11).
 Figure 4.11

The chromosomal
explanation of the results
of the X-linked crosses
shown in Figure 4.10.
Crisscross Pattern of Inheritance

• Crisscross pattern of inheritance:

• Result of X-linkage.
• Phenotypic traits controlled by recessive X-linked
genes.
• Passed from homozygous mother to all sons.
• Females carry mutant allele on both X chromosomes.
X-Linkage in Humans

• X-linked traits: Controlled by X chromosome:

• Color blindness: Figure 4.12:
• Red/green color blindness.
• Mother passes to all sons.
• Mother passes to no daughters.
Figure 4.12

A human pedigree of the X-linked color-blindness trait. The photograph is

of an Ishihara color-blindness chart. Those with normal vision will see the
number 15, while those with red-green color blindness will see the
number 17.
Lethal X-Linked Recessive

• Lethal X-linked recessive disorders:

• Observed only in males.
• Females can only be heterozygous carriers who do
not develop the disorders.
• Example: Duchenne muscular dystrophy:
• Onset prior to age 6.
• Lethal around age 20.
• Occurs only in males.
 4.12 In Sex-Limited and Sex-
Influenced Inheritance, an
Individual’s Sex Influences the
Phenotype
Sex-Limited Inheritance (1 of 2)

• Sex-limited inheritance:
• Patterns of gene expression affected by gender.
• Expression of specific phenotype absolutely limited to
one gender.
• Patterns of gene expression may affect by gender
even when not on X chromosome.
• Expression of genes dependent on hormone
constitution of individual.
• Example: Domestic fowl neck plumage different in
males and females (Figure 4.13).
Sex-Limited Inheritance (2 of 2)

• Feather plumage in chickens (Figure 4.13):

• Caused by autosomal gene.
• Hen-feathering controlled by dominant allele expressed in both
sexes.
• Cock-feathering controlled by recessive allele only expressed in
males.
• Actual expression can be modified by individual’s sex hormones.

Genotype Phenotype Phenotype

Females Males
HH Hen-feathered Hen-feathered
Hh Hen-feathered Hen-feathered
Hh Hen-feathered Cock-feathered
Figure 4.13

Hen feathering (left) and cock feathering (right) in domestic fowl. Note
that the hen’s feathers are shorter and less curved.
Sex-Influenced Inheritance

• Pattern baldness in humans (Figure 4.14):

• Autosomal genes responsible for phenotypes.
• Allele B behaves dominant in males and recessive in
females.
• In BB genotype in females, phenotype is less
pronounced.

Genotype Phenotype Phenotype

Females Males
BB Bald Bald
Bb Not bald Bald
bb Not bald Not bald
Figure 4.14

Pattern baldness, a sex-influenced autosomal trait in a young man.

4.13 Genetic Background and the
Environment May Alter Phenotypic
Expression
Phenotypic Expression

• Phenotypic expression of trait:

• Influenced by environment.
• Influenced by genotype.
• Gene products function within cell in various ways.
• Organism exists in diverse environmental influences.
Penetrance and Expressivity

• Penetrance:
• Percentage of expression of mutant genotype in
population.
• Expressivity:
• Range of expression of mutant phenotype.
• Result of genetic background differences and/or
environmental effects.
Penetrance and Expressivity—Drosophila

• Eyeless mutation in Drosophila:

• Homozygous recessive mutant gene.
• Phenotype ranges from presence of normal eyes to
absence of one or both eyes.
• See Figure 4.15.
Figure 4.15

Variable expressivity, as
shown in flies homozygous
for the eyeless mutation in
Drosophila. Gradations in
phenotype range from wild
type to partial reduction to
eyeless.
Genetic Background: Position Effect

• Physical location of gene in relation to other genetic

material may influence its expression:
• Physical location of gene influences expression.
• Translocation or inversion events modify expression.
• Gene is relocated to condensed or genetically inert
chromosome (heterochromatin).
• Example: Female Drosophila heterozygous for X-
linked recessive eye color mutant white (w).
Conditional Mutations (1 of 3)

• Temperature effects phenotype

• Figure 4.16:
• Evening primrose:

• Red flowers at 23o C

• White flowers at 18o C
• Siamese cats and Himalayan rabbits:
• Darker fur on cooler areas of body (tail, feet, and
ears).
• Enzymes lose catalytic function at higher
temperature.
Figure 4.16

(a) A Himalayan rabbit. (b) A Siamese cat. Both species show dark fur
color on the snout, ears, and paws. The patches are due to the
temperature-sensitive allele responsible for pigment production.
Conditional Mutations (2 of 3)

• Temperature-sensitive mutations:
• Viruses, bacteria, fungi, and Drosophila.
• Mutant allele expresses mutant phenotype at one
temperature, wild-type phenotype at another.
Conditional Mutations (3 of 3)

• Studying viral genetics:

• Temperature-sensitive mutations are easily induced
and isolated in viruses.
• Permissive condition:
• Bacterial virus cultured at 25o C
• Mutant gene product is functional.
• Restrictive condition:
• Bacterial virus cultured at 42o C
• Gene product arrests.
Onset of Genetic Expression (1 of 5)

• Genetic traits:
• Become apparent at different times during an
organism’s life span.
• In humans:
• Prenatal, infant, preadult, and adult phases require
different genetic information.
• Many severe inherited disorders are not manifested
until after birth.
Onset of Genetic Expression (2 of 5)

• Tay–Sachs disease (autosomal recessive):

• Lipid metabolism disease involving abnormal enzyme
hexosaminidase A.
• Newborn is normal for few months, then
developmental disability, paralysis, blindness, and
death by age 3.
Onset of Genetic Expression (3 of 5)

• Lesch–Nyhan disease (X-linked recessive):

• Abnormal nucleic acid metabolism leads to increased uric
acid in blood and tissues.
• Intellectual disability, palsy, and self-mutilation of lips and
fingers:
• Due to mutation of gene-encoding enzyme HGPRT.
• Newborns normal for 6–8 months prior to onset of first
symptoms.
Onset of Genetic Expression (4 of 5)

• Duchene muscular dystrophy (DMD):

• X-linked recessive
• Associated with progressive muscular wasting
• Diagnosis 3–5 years of age
• Fatal in early 20s
Onset of Genetic Expression (5 of 5)

• Huntington disease:
• Autosomal dominant.
• Affects frontal lobes of cerebral cortex.
• Progressive cell death occurs over period of more than
a decade.
• Brain deterioration accompanied by spastic
uncontrolled movements, intellectual and emotional
deterioration, and ultimately death.
• Onset around age 45.
Genetic Anticipation

• Genetic anticipation:
• Genetic disease has earlier onset and increased
severity with each succeeding generation.
• Example: Myotonic dystrophy (DM):
• Most common type of adult muscular dystrophy.
• Autosomal dominant.
• Increased severity and earlier onset with successive
generations of inheritance.
4.14 Extranuclear Inheritance
Modifies Mendelian Patterns
Inheritance Patterns (1 of 2)

• Extranuclear inheritance:
• Inheritance patterns which vary from traditional
biparental inheritance of nuclear genes.
• Examples:
• Organelle heredity
• Maternal effect
Inheritance Patterns (2 of 2)

• Organelle heredity:
• Organism’s phenotype affected by genes in
mitochondria and chloroplasts.
• Maternal effect:
• Organism’s phenotype determined by genetic
information expressed in maternal gamete.
• Following fertilization, developing zygote’s phenotype
is determined not by individual’s genotype but by
gene products directed by mother’s genotype.
Organelle Heredity: DNA in Chloroplasts
and Mitochondria

• Inheritance patterns related to chloroplast and

mitochondrial function.
• Organelle heredity:
• Extranuclear pattern of inheritance.
• Transmission from maternal parent via ooplasm.
• Heteroplasmy:
• Cell may or may not have mutant genes in
organelles—phenotype may not be revealed.
Chloroplasts: Variegation in Four-o’clock
Plants

• Inheritance linked to chloroplast transmission:

• Mirabilis jalapa (four-o’clock plant):
• White, green, and variegated (white and green)
leaves were found in Mirabilis jalapa.
• White areas contain no chlorophyll, found in
chloroplasts.
• See Figure 4.17.
• Ovule determines leaf coloration—related to
presence of normal/mutant chloroplasts.
Figure 4.17
Offspring from crosses between flowers from various branches of four-o’clock plants. The
photograph illustrates variegation in leaves of the madagascar spur.

Source of Pollen Location of Ovule Location of Ovule Location of Ovule

White branch Green branch Variegated branch
White branch White Green White, green, or variegated

Green branch White Green White, green, or variegated

Variegated branch White Green White, green, or variegated

Mitochondrial Mutations: Poky in
Neurospora and Petite in Saccharomyces

• Mitochondrial mutations:
• Transmitted through cytoplasm (like chloroplasts).
• Neurospora crassa (bread mold):
• Slow-growing mutant strain pokey had impaired
mitochondrial function—transmitted through cytoplasm.
• Saccharomyces cerevisiae (yeast):
• Petite colonies—deficiency in cellular respiration, indicating
mutations in mitochondrial DNA (Figure 4.18).
Figure 4.18
A photo comparing normal versus petite colonies of the yeast
Saccharomyces cerevisiae. The larger normal colonies appear pink,
while the smaller mutant petite colonies appear white.
Mitochondrial Mutations: Human Genetic
Disorders (1 of 2)

• DNA found in human mitochondria completely sequenced:

• Contains 16,569 base pairs.
• Mitochondrial gene products identified to include:
• 13 proteins required or aerobic cellular respiration.
• 22 transfer RNAs (tRNAs)—required for translation.
’ ’

• 2 ribosomal RNAs (rRNAs)—required for

’ ’

translation.
Mitochondrial Mutations: Human Genetic
Disorders (2 of 2)

• MERRF: Myoclonic epilepsy and ragged-red fiber

disease:
• Disorder due to mutation in mitochondrial genes:
• Specifically the gene encoding tRNALys .

• Interferes with translation—leads to disorders.

• Affected cells exhibit heteroplasmy.
• Contain mixture of normal and abnormal
mitochondria.
Maternal Effect

• Maternal effect (maternal influence):

• Offspring’s phenotype of particular trait under control
of mother’s nuclear gene products present in egg.
• Nuclear genes of female gamete are transcribed—
genetic products accumulate in egg ooplasm:
• Genetic products get distributed among new cells.
• Influence patterns or traits in early development.
Embryonic Development in Drosophila

• Protein products of maternal-effect genes function to

activate other genes:
• May in turn activate other genes, ultimately leading to
normal embryo.
• Genes illustrate maternal effect:
• Have products synthesized by developing egg and
stored in oocyte prior to fertilization.
• Products, upon fertilization, specify molecular
gradients—determine spatial organization and
development.
Section 4.15 Bicoid (bcd)

• Bicoid (bcd) gene:

• Responsible for anterior development of fly.
• Embryos from mothers homozygous recessive for gene
fail to develop anterior areas:
• Heterozygous mothers develop normally—even if
genotype of embryo is homozygous recessive.
• Genotype of female parent, not genotype of embryo,
determines phenotype of offspring.