Ronnee Yashon

Michael Cummings

Chapter 7
Sex and Development
 Central Points
 Chromosomal sex determined at fertilization

 The phenomenon X inactivation

Is it going to be a boy or a girl?

How is the sex determined?

The Human Chromosome Set
How do chromosomes help determine sex ?
 X and Y Chromosomes
X chromosome
 Contains > 1,500 genes
 Genes exhibit a unique pattern of
inheritance
 Disorders affect males more frequently

Y chromosome
 Contains 231 genes
 Genes tend to be involved in male sex
determination, development and male
fertility
How Is the Sex Determined?
Egg-producing Sperm-producing
cell in ovary has cell in testis has
2 chromosomes an X and a Y
chromosome

MEIOSIS

The eggs produced The sperm formed

each have an X have either an X or a
Y
X and Y Chromosomes in Sex Determination
Fertilization:

If the X-bearing sperm joins with the

egg, the result is a female; if a Y-
bearing sperm joins with the egg,
the result is a male
 Review Question
A diploid cell has_______ the number of chromosomes as a
haploid cell.

A) one-forth

B) twice

C) half

D) four times
The Process of Sperm Sorting
for Sex Selection
How Does a Baby Develop from Fertilization
to Birth?
 Development: Fertilization to Birth
Union of sperm and ovum
Only sperm head enters oocyte
Acrosomal enzymes aid sperm penetration
Chemical and electrical changes in oocyte surface block entry of more sperm
Two sets of chromosomes fuse into one nucleus, forming zygote

Figure 2.3
 From Fertilization to Implantation

• Embryo moves to the uterus

(3–4 days), cell division continues

• Forms a large hollow ball of cells

or blastocyst:
It contains an inner cell mass,
an internal cavity, and an
outer layer of cells

 Implantation in uterine wall is

complete by ~12 days
Figure 2.3
 Blastocyst
Consists of two main parts:
1. Inner cell mass (ICM), which develops into the embryo

2. Trophoblast, which develops into the placenta

Figure 2.3
 Human Embryonic Stem Cells

 Inner cell mass contains human embryonic stem

cells (hEc): hEc can develop into many types of cells

 Ethical and legal issues associated with hEc use in

research and treatments
Why do you think?
 Development: The Chorion Forms
 Chorion produces human chorionic
gonadotropin (hCG), which prevents loss
of uterine lining

hCG in urine used for

home pregnancy tests

 Chorion forms villi

 Maternal tissues and villi form the placenta

 The Fetus Grows

Many developmental changes occur in the fetus from fertilization to birth

Figure 2.3
Stages of Sexual Development
Formation of reproductive organs controlled by interaction
between:

1. Which genes are activated

2. Hormones present in the uterus

 Stages of Sex Development
Sex organs do not develop until week 7 or 8

 Expression of a gene on the Y chromosome causes

the gonads to become testes

 Testes secrete testosterone, controls development of

male reproductive organs

 If Y chromosome is not present, the gonad develops as

an ovary
◦ Female duct systems develop to form reproductive structures
◦ Male duct systems degenerate

 Phenotypic sex develops

Females (XX) carry twice as many X-linked genes on their
sex chromosomes as males (XY)

How do cells control gene expression to manage this

potentially lethal dosage problem?
 X Inactivation
• Females have two X chromosomes:
Therefore, two alleles for
X chromosome genes

• Males have only one X chromosome

and one allele

In mammals, X inactivation balances this inequality

One X chromosome is randomly inactivated in each cell. The inactivated

X chromosome is called Barr body
 Barr Bodies
 In females, one X chromosome is
inactivated, forms Barr Body

 Some cells express genes from father’s X

chromosome, some express mother’s X
chromosome

 Males and XO individuals do not form Barr

Bodies
 Case Study: Fails Sex Test

 Maria Patino has complete

androgen insensitivity (CAI), or
androgen insensitivity syndrome
(AIS)

 Chromosomally, she was a male

(XY) but her gonads do not
respond to testosterone
 Complete Androgen Insensitivity (CAI)
 Mutation of androgen receptor (AR) gene on the X chromosome

• Lack receptors for testosterone or hormones derived from testosterone

• Cells in the gonad cannot respond to hormone

 Female duct system and external genitals develop

 Physically appear to be females with well-developed breasts but

limited pubic hair

 Do not menstruate, infertile, and have undescended testes in

their abdomens not ovaries
Abnormalities in Sexual Development
Androgen insensitivity syndrome = Lack of functional androgen receptors

Normal receptor Mutant receptor

 Case Study Questions
1. Is Maria Patino a female? Why?

2. Maria Patino was XY and did not form Barr

bodies. What do you conclude about this sex
testing?

3. What legal issues are important in this case?

Take Home Message

Life cycle and reproduction

 Homework

Mosaic patterns occur in the black and yellow-orange patches of female

tortoiseshess. Such coat-color patterns do not occur in male cats.
Explain why?

Hint: Coat-color genes are X-linked.