5 Sex

Determination
and Sex
Chromosomes
Lecture Presentations by
Cindy Malone
California State University, Northridge

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Chapter 5 Contents

5.1 X and Y Chromosomes Were First Linked to Sex

Determination Early in the Twentieth Century
5.2 The Y Chromosome Determines Maleness in Humans
5.3 The Ratio of Males to Females in Humans Is Not 1.0
5.4 Dosage Compensation Prevents Excessive Expression of
X-Linked Genes in Humans and Other Mammals
5.5 The Ratio of X Chromosomes to Sets of Autosomes
Determines Sex
5.6 Temperature Variation Controls Sex Determination in
Reptiles

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Introduction

Wide range of reproductive modes in biological

world
Some organisms are entirely asexual.
Some alternate between short periods of sexual
reproduction and prolonged periods of asexual
reproduction.

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Introduction

Sexual reproduction
Only natural mechanism for producing new members
of species
Meiosis ensures genetic constancy.
Gives genotypic/phenotypic variability through
segregation, recombination, and independent
assortment during gamete production

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Introduction

Sexual differentiation
Successful fertilization depends on sexual
differentiation in reproductive organisms.
In complex life forms, differentiation of sexes is more
evident as phenotypic dimorphism of males and
females.

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Introduction

Eukaryotic organisms exhibit phenotypic

dimorphism of males and females.
Heteromorphic or sex (dissimilar) chromosomes
(XY in mammals) characterize one sex or the other
in a wide range of species.
Genes rather than sex chromosomes are the basis
for sex determination.

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 5.1 X and Y Chromosomes Were
First Linked to Sex Determination
Early in the Twentieth Century

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Section 5.1 X and Y Chromosomes

Nuclear structure in sperm of insect discovered in

1891named X-body
Female somatic cells in butterfly (Protenor) have 14
chromosomes, including two X chromosomes.
Male somatic cells have 13 chromosomes with one
X chromosome.
Fertilization by X-bearing sperm female offspring
Fertilization by X-deficient sperm male offspring

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Section 5.1 Protenor and Lygaeus insects

Protenor and Lygaeus insects

Males produce unlike gametes (heterogametic sex).
Their gametes determine the sex of the progeny.
Female gametes (homogametic sex) all have
X chromosome.
Male gametes (heterogametic sex) have either X or
Y chromosome.
In some organisms, females produce unlike
gametes.
Figure 5-1

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Figure 5-1

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Section 5.1 X and Y Chromosomes

ZZ/ZW notation
Used when female is heterogametic sex
ZZ is homogametic male.
ZW is heterogametic female.
Example: chickens

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 5.2 The Y Chromosome Determines
Maleness in Humans

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Section 5.2

The human karyotype revealed that one pair of

chromosomes differs in males and females.
Of the 23 pairs chromosomes, one pair varied in
configuration in males and females.
Females have two X chromosomes.
Males have one X and one Y chromosome.

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Section 5.2 Klinefelter Syndrome

Klinefelter syndrome
Tall with long arms and legslarge hands and feet
Testes are rudimentary and fail to produce sperm.
Slight breast enlargement and hips often rounded
Intelligence below normal range
47,XXY karyotype
Figure 5-2a

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Section 5.2 Turner Syndrome

Turner syndrome
Female external genitalia and internal ducts but
ovaries rudimentary
Short stature; skin flaps on back of neck; flat
underdeveloped breasts; broad, shieldlike chest
Normal intelligence
45,X karyotypeFigure 5-4b
Both Klinefelter and Turner syndromes occur due to
nondisjunction during meiosis.

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Figure 5-2

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Section 5.2 47,XXX Syndrome (Triplo-X_)

Triplo-XXX
Three X chromosomes along with normal set of
autosomes (47,XXX)
Results in female differentiation (1/1000 live births)
Often 47,XXX women perfectly normalunaware of
condition
Underdeveloped secondary sex characteristics,
sterility, and mental retardation do occur.
Tetra-X and penta-X karyotypes have been
reported.

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Section 5.2 47,XYY Condition

47,XYY
Presence of additional Y chromosome is the only
deviation from diploidy.
Consistently shared characteristic found so far:
Males are over 6 feet tall with subnormal intelligence.

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Section 5.2 Sexual Differentiation in Humans

Y chromosome houses genetic information for

malenessgene provides signal.
Early embryonic developmentembryo
hermaphroditicgonadal phenotype sexually
indifferent
By 5th week, gonadal ridges form either ovaries or
testes (bipotential gonads).

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Section 5.2 Sexual Differentiation in Humans

Y chromosome houses genetic information for

malenessgene provides signal.
If cell of ridge has XY constitution medulla
develops into testes.
Absence of Y chromosome
Cortex of ridge forms ovarian tissue.
Mullerian duct forms oviducts, uterus, cervix, and
portions of vagina.

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Section 5.2 The Y Chromosome and Male
Development
Y chromosome has at least 75 genes;
X chromosome has 9001400 genes.
Pseudoautosomal regions (PARs)
Present on both ends of Y chromosomeshare
homology with regions on X chromosome
Synapse and recombine with X chromosome during
meiosis
Pairing region is critical for segregation of X and
Y chromosomes during male gametogenesis.

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Section 5.2 MSY: Male-Specific Region of Y

MSY: Male-specific region of the Y

Divided equally between euchromatic (functional
genes) and heterochromatic regions (lacking
genes)
SRY: Sex-determining region Y
Critical gene controlling sexual development
Located adjacent to PAR of short arm on Y
chromosome
Figure 5-3

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Figure 5-3

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Section 5.2 TDF: Testis-Determining Factor

SRY gene encodes protein TDF.

Testis-determining factor
Present in all mammalstriggers testes formation
Causes undifferentiated gonadal tissue of embryo to
form testes
Deviations from normal sex determination
Males with two X chromosomes and no Y
Females with one X chromosome and one Y
chromosome are missing SRY gene.

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Section 5.2

Transgenic mice research

Produced from fertilized eggs injected with foreign
DNA
Mouse DNA with SRY injected into XX mice eggs
most offspring being males
TDF believed to be transcription factorbehaves as
master switch controlling genes involved in sexual
differentiation

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 5.3 The Ratio of Males to Females in
Humans Is Not 1.0

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Section 5.3 Sex Ratio

Sex ratio
Proportion of male to female offspring
PSR: Primary sex ratio
Reflects proportion of males to females conceived in
population
Secondary sex ratio
Reflects proportion of each sex born

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Section 5.3 Sex Ratio

Why are more males born than females if:

Due to segregation, males produce equal numbers
of X- and Y-bearing sperm
Each type of sperm has equivalent viability and
motility
Egg surface is receptive to both X- and Y-bearing
sperm
Question is still under investigation; recent findings
contradict and convince earlier studies.

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 5.4 Dosage Compensation Prevents
Excessive Expression of X-Linked
Genes in Humans and Other Mammals

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Section 5.4 Dosage Compensation

Dosage compensation
Balances dose of X chromosome gene expression in
females and males

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Section 5.4 Barr Bodies

Barr Bodies (Sex chromatin body)Figure 5-4

Inactive X chromosomeshighly condensed
Lie against nuclear envelope of interphase cells
Arise from one of two X chromosomes
Provide possible mechanism for dosage
compensation

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Figure 5-4

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Section 5.4

X chromosome number in somatic cell irrelevant

all but one is inactivatedseen as a Barr Body
Turner syndrome: no Barr bodies (XO)
Klinefelter syndrome: one Barr body (XXY)
Two Barr bodies in 47,XXX
Number of Barr bodies: N 1 rule
Figure 5-5

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Figure 5-5

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Section 5.4

If one of two X chromosomes is inactivated:

Why is Turner syndrome 45,XO not entirely normal?
Why are females with triple or tetra Xs not normal?
Why does an extra X in Klinefelter syndrome
(47,XXY) result in a characteristic phenotype?

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Section 5.4

Possible explanations
Inactivation does not take place in the early stages
of gonadal tissue development.
Not all genes on X chromosomes are inactivated.

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Section 5.4 Lyon Hypothesis

Lyon hypothesis
Inactivation of X chromosome is random; all
descendant cells have same inactivation.
Research on mice heterozygous for X-linked coat
color genes
Heterozygote female mice show mottling coat color
for coat-color genes on X chromosome.
Calico cats show black and yellow-orange patches
of fur color (Figure 5-6).

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Figure 5-6

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Section 5.4 Human G6PD

Direct evidence supports the Lyon hypothesis.

Human G6PD (glucose 6-phosphate
dehydrogenase) is controlled by X-linked gene.
Studies of direct gene expression in clones of
human fibroblast cells show X inactivation in clone
cells.

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Section 5.4 Mechanism of Inactivation

DNA, histone proteins, or both are chemically

modified.
DNA inactivated
Silences most genes
Creates a memory that keeps same homolog
inactivated following chromosome replications and
cell division
Imprinting: process whereby expression of genes
on one homolog but not other is affected

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Section 5.4 Xic: Mechanism of Inactivation

X-inactivation center (Xic)

Located on proximal end of p arm in humans
Major control unit on X chromosome
Genetic expression occurs only on inactivated X
chromosome.
Consists of X-inactive specific transcript (XIST)
genecritical to inactivation

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 5.5 The Ratio of X Chromosomes to
Sets of Autosomes Determines Sex

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Section 5.5 Drosophila and C. elegans

Y chromosome does not determine sex in

Drosophila and Caenorhabditis elegans
(C. elegans)

Drosophila: contains Y chromosome but has no role

C. elegans: has no Y chromosome

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Section 5.5 Drosophila and C. elegans

Sex is determined by ratio of X chromosomes to

haploid sets of autosomes (A).
Normal female AA and XX 1:1
Normal male AA and XY 1:2
(Figure 5-7)
X chromosome on male (in Drosophila) is
upregulatedtranscription level equals the
XX female.

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Figure 5-7

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Section 5.5 Genetic Balance Theory

Genic balance theory

Threshold of maleness is reached when X:A ratio is
1:2 (X:2A).
Presence of additional X (XX:2A) alters balance and
results in female differentiation.

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Section 5.5 C. elegans

C. elegans has two sexual phenotypesFigure

5-8.
Males with one testes have only one X chromosome,
no Y.
Hermaphrodites (have both testes and ovaries)
Have two X chromosomes, no Y
Eggs are fertilized by stored spermself fertilization.
Majority of offspring are hermaphrodites; less
than 1% are males.

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Figure 5-8

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 5.6 Temperature Variation Controls
Sex Determination in Reptiles

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Section 5.6 Temperature-Dependent Sex
Determination
TSD: Temperature-dependent sex determination
Environment, specifically temperature, has
profound influence on sex determination.
Reptile species do use ZZ/ZW or XX/XY in sex
determination; in others TSD is the norm.
Enzymes involved in steroids, androgens, and
estrogen synthesis are affected (inhibited) by
temperature.

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Section 5.6 Patterns of Temperature Sex
Determination
Three different patterns of temperature sex
determination in reptiles (Figure 5-9)
Case I: Low temperatures yield 100% females; high
temperatures yield 100% males.
Case II: The exact opposite occurs.
Case III: Low and high temperatures yield 100%
females; intermediate temperatures yield various
proportions of males.
Seen in various species of crocodiles, turtles, and
lizards

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Figure 5-9

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Section 5.6 Aromatase

Temperature effects on enzymes

Aromatase converts androgens (male hormones
such as testosterone) to estrogens (female
hormones such as estradiol).
Thermosensitive factors mediate transcription of
gene.
Sex-determining mechanisms involving estrogens
are characteristic of nonmammalian vertebrates.

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