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Chapter 4 Revised Slides

The document discusses various mechanisms of sex determination, including chromosomal systems (XX-XY, ZZ-ZW, and haplodiploidy) and environmental factors. It highlights the role of the SRY gene in humans and the implications of sex-linked characteristics, particularly in Drosophila and humans. Additionally, it addresses concepts like dosage compensation and random X inactivation, emphasizing the genetic complexities of sex determination and inheritance.

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Netanya Mc Namara
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25 views49 pages

Chapter 4 Revised Slides

The document discusses various mechanisms of sex determination, including chromosomal systems (XX-XY, ZZ-ZW, and haplodiploidy) and environmental factors. It highlights the role of the SRY gene in humans and the implications of sex-linked characteristics, particularly in Drosophila and humans. Additionally, it addresses concepts like dosage compensation and random X inactivation, emphasizing the genetic complexities of sex determination and inheritance.

Uploaded by

Netanya Mc Namara
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Sex Determination and Sex-linked

Characteristics
• There are several different mechanisms of sex
determination
• The X and Y chromosomes pair during meiosis,
even though they are not homologous (the
genes located on each are different)
Sex Determination
• Sexual reproduction: alternates between haploid
and diploid states (Fig. 4.3)
• Most organisms have two sexual phenotypes,
male and female (Fig. 4.4)
Sex Determination Mechanisms

• Hermaphroditism: both sexes in the same


organism
• Monoecious: both male and female reproductive
structures in the same organism

Different from Hermaphroditism:


Dioecious: either male or female reproductive
structures in one organism. Like a male plant or a
female plant; a male animal or a female animal etc.
Chromosomal Sex-Determination Systems:
Sex Chromosomes and Non-Sex
Chromosomes (Autosomes)
• XX-XO system:
• XX – female
• XO – male
• grasshoppers

• XX-XY system:
• XX – female
• XY – male
• mammals
Chromosomal Sex-Determination
Systems
• ZZ-ZW system:
• ZZ – male
• ZW – female
• Birds, snakes, butterflies, some amphibians,
and fishes
• Haplodiploidy system:
• Haploid set – male
• Diploid set – female
• Bees, wasps, and ants
Genic Sex-Determining System

• No sex chromosomes, only the sex-determining


genes
• Found in some plants, fungi, protozoans, and
fish
Environmental Sex Determination

• Environmental factors

• Limpet’s position in the stack

• Temperature in turtles
Sex Determination in Drosophila
melanogaster
• Genic balance system
• X : A ratio (X, number of X chromosomes;
A, number of haploid sets of autosomes)
• However, current understanding is- sex is
determined by the genes on X chromosome
- #of autosomes effect is indirect- timing
of developmental events by regulating
how long sex determining genes on X are active
• Intersex- critical developmental phase shorten- no time
to accumulate X chromosome gene products
• No role of autosomal genes in sex determination
Concept Check 2

What is the sexual phenotype of a fruit fly that


has XXYYY sex chromosomes and two sets of
autosomes?
a. Male
b. Female
c. Intersex
d. Metamale
Concept Check 2

What is the sexual phenotype of a fruit fly that


has XXYYY sex chromosomes and two sets of
autosomes?
a. Male
b. Female
c. Intersex
d. Metamale
Sex Determination in Humans
XX-XY
• SRY gene on the Y chromosome determines maleness: SRY
present in XX males and missing in XY female
• Engineered SRY in XX mice- developed into male

• Turner syndrome: XO; 1/3000 female births: Short, low hairline


broad chest. Life expectancy slightly shorter than normal

• Klinefelter syndrome: XXY, or XXXY, or XXXXY, or XXYY; 1/1000


male births: Tall, normal to varying symptom. Usually normal life
expectancy but sterile

• Poly-X females: 1/1000 female births: Tall and thin, slightly lower
intellectual ability, many are fertile
• XYY male
Turner
Klinefelter
Nondisjunction in meiosis I
Nondisjunction in meiosis II

Animation
In a cross between homozygous red-eyed females (X+X+) with white eyed
Male (XwY), all were red-eyed except 3 white eyed males
- Exceptions arose only in white eyed flies
- Crossed white eyed female (XwXw) to red eyed male (X+Y)
- 5% of male had red-eye and 5% of female had white eyes- unexpected
- Expected: every male should get X from mother side- so should be white eyed
- Every female should get dominant red-eye allele from dad’s X chromosome:
should be red-eyed!!
How to explain this anomaly??
Bridges proposed that White eyed female has two X chromosomes and a Y
chromosome (XwXwY)- X:A ratio of 1 so female
Two X chromosomes in female fail to separate (10% of the time)
Proved that sex genes on X
And confirmed chromosomal theory of inheritance
The Role of Sex Chromosomes

• The X chromosome contains genetic information


essential for both sexes; at least one copy of an
X is required.

• The male-determining gene is located on the Y


chromosome. A single Y, even in the presence of
several X’s, still produces a male phenotype.

• The absence of Y results in a female phenotype.


The Male-Determining Gene in
Humans
• Sex-determining region Y (SRY) gene

• Androgen-insensitivity syndrome: Female XY

• Caused by the defective androgen receptor:


Testosterone can’t bind
- X-chromosome localized- inherit from mother
- Genes for sex characteristics located on
autosomes
- Control of expression is important
SRY gene encodes a Transcription factor: regulates
genes that promote differentiation of the testes
XX transgenic mice with SRY gene is male but sterile
- Other genes are also important for maleness
Sex-Linked Characteristics Are
Determined by Genes on the Sex
Chromosomes
• X-Linked characteristics
– X-linked white eye in Drosophila
• Figure 4.12

– X-linked color blindness in humans


• Figure 4.14
4.13 Bridges’s crosses
proved that the gene for
white eyes is located on
the X chromosome
4.13 (1) Bridges’s crosses
proved that the gene for
white eyes is located on
the X chromosome
4.13 (2) Bridges’s crosses
proved that the gene for
white eyes is located on
the X chromosome
X-linked recessive traits alternate
between the sexes: Appearing in females
in one generation and in males in the next
generation
-Affected female to sons not to daughter
but affected father to grandsons
- Males are more affected
Betty has normal vision
But her mother was color blind. Bill Page 94
Is color blind. If Betty and
Bill have a child together, what is
the probability that the child will be
color blind?
Y-Linked Characteristics

• Only present in males


• All male offspring will exhibit the trait
• Y chromosome lost DNA over time
• Important for sex determination in SRY
No crossing over- no male genes in females
Y-Linked Characteristics
• Sex chromosome evolved from autosomes
• Y chromosome accumulates mutation, lose genes,
becomes shorter
• Crossing over can repair gene mutation
• 350 gene son Y chromosome but lots of repeats
• Palindromic sequence can allow recombination
-offsetting lack of X and Y crossing over
5’ TGGGAG…..CTCCCA 3’
3’ ACCCTC….. GAGGGT 5’
- Prevents total degeneration of Y chromosome but can
cause gene rearrangement causing gene loss: like XY
female, XO (broken Y with two centromeres)
X-Linked Characteristics

• Dosage compensation: the amount of protein


produced by X-linked genes and randomly
inactivated in two sexes
• Figure 4.17
• Lyon hypothesis
Barr body is an inactivated X chromosome
Heterozygous at X linked locus:
50% of cell will express one allele; 50%
0f cells will express the other allele
- Females are mosaics for X-linked genes
Random X Inactivation

Single X linked gene determines color- X+ black and X0 –orange


- Males hemizygous: black (X+Y)or orange (X0Y)- never black AND orange
- Females can be black (X+X+); orange (X0X0) or tortoiseshell (X+X0)
- In orange patch: black allele is inactivated
- In Black patch: orange allele is inactivated
If X is inactivated, then XO (Turner) or XXY (Klinefelter) should be normal
XO should not differ from XX; XXY should not differ from XY
- 15% of X-linked genes ESCAPE inactivation- twice as much protein in females
- 10% of X-linked genes are inactivated in some females but not in others
- Actually inactivation does not actually equalize dosage
- Xist gene produces 17000 nt long RNA that coats X chromosome to inactivate

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