Genetics and

Reproductive Physiology
ANAT 1053 | UNIT 10: GENETICS 7 REPRODUCTIVE PHYSIOLOGY

© 2015 Pearson Education, Inc.

 Principles of Genetics

© 2015 Pearson Education, Inc.

 Principles of Genetics

• Porth (4th ed.)

• Chap 5: pages 95-99
• Chromosomes, Chromosome, the microscopic threadlike part of the cell that carries hereditary information in
the form of genes

• cell division (meiosis), Meiosis is a process where a single cell divides twice to produce four cells
containing half the original amount of genetic information. These cells are
our sex cells – sperm in males, eggs in females
• chromosome structure Chromosomes are thread-like structures located inside the nucleus of
animal and plant cells. Each chromosome is made of protein and a single
• Patterns of inheritance molecule of deoxyribonucleic acid (DNA).
• Definitions
autosomal dominant, autosomal recessive, X-linked dominant, and X-linked
recessive.

• Mendel laws (Punnett square) The Punnett square is a visual representation of Mendelian
inheritance

• Chap 6: pages 106-108, 110

• Single gene disorders
• Autosomal dominant disorders
• Autosomal recessive Autosomal
Autosomal dominant traits pass from one parent onto their child.
recessive traits pass from both parents onto their child.
Autosomal refers to the 22 numbered chromosomes as opposed to the
sex chromosomes (X and Y)
 Principles of Genetics

What is genetics?
• The study of ______________
Genetics is the study of how genes and how traits are passed down from one generation to the next

What is a gene?
• A DNA segment on a ____________ cell
that determines a specific trait
• A gene is the basic unit of ______________ heredity

• Each gene contains the instructions for a specific _____________ trait

Locus. Locus is a term that we use to tell us

where on a chromosome a specific gene is. So
it's really the physical location of a gene on a
Where are your genes located? chromosome. Each gene has its own specific location on the
chromosome or on the mitochondrial DNA.

• Each gene has its own specific location on a ______________

• Thousands of genes make up each chromosome
 Principles of Genetics

Cell Nucleus

Chromosomes

Genes

DNA
 Principles of Genetics

nucleus
DNA Bases chromosome
protein

Gene
cell

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 Chromosomes

• Human cells have 46 • “Chromosome arms”

chromosomes (23 pairs) (long and a short arm) are
located on either side of
centromere.
• Centromeres – where
the chromosome arms
are connected (help to
keep chromosomes properly
aligned during the complex
process of cell division)
• Telomeres protect the
ends of the chromosomes
 Chromosomes

• Humans have 46 • Of the 23 pairs of

chromosomes:
chromosomes (or 23
pairs) contained in • 22 pairs are autosomes
every cell in our bodies • The last pair consists of sex
(except gametes – ova/egg chromosomes
or sperm)
• Sex chromosomes:
• We have 2 main •X
categories of •Y
chromosomes:
• Autosomes • What are the chromosomes
in females and males?
• Sex Chromosomes
Females:
Males:
Females typically have two X chromosomes, while males typically have one X and one Y
chromosome
Human chromosomes. (A) Female. (Courtesy of David Peakman, Reproductive Genetics
Center, Denver, CO.)
Human chromosomes. (B) Male. (Courtesy of David Peakman, Reproductive Genetics Center,
Denver, CO.)
 Review - Mitosis

Mitosis: is the asexual reproduction that leads to

the division of the cell nucleus
• Results in two identical daughter cells
• each with the same number of chromosomes
as the parent cell
• 46 chromosomes
• or 23 pairs
• Used to produce identical cells to the parent cell!

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 Review - Meiosis

Meiosis: is sexual
reproduction that leads to two
successive divisions of the
nucleus to form gametes
• Results in four daughter
cells (gametes – ova/eggs
or sperm) with half the
number of chromosomes
• 23 chromosomes
• Used to make 4 cells
that are genetically
different!
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https://www.youtube.com/watch?v=zGVBAHAsjJM
 Genetics

• Genes carry the information • If two people's

needed to construct new genotypes are
human beings different, will their
phenotypes be
• Genotype: a person’s genetic different also?
information inherited from
the parents • Not necessarily
• (the genetic code in their cells) • Expression of the trait
will depend on
• Phenotype: a person’s whether the version
recognizable traits associated coded for is dominant
with the genotype or recessive
• (the physical expression /
observed properties)
 Mendelian Genetics
Homozygous and heterozygous are terms that are used to describe allele
• What is an allele? pairs. Individuals carrying two identical alleles (RR or rr) are known as
homozygous. While individual organisms bearing different alleles (Rr) are
known as heterozygous.
-different versions of a gene

• What is a dominant allele?

Expressed even if only one copy
of the allele is present
• What is a recessive allele?
Two copies of the recessive allele
need to be present in order for
trait to be expressed.

• If both your copies of a gene are

the same, you are homozygous

• If they differ, you are heterozygous

• If you are heterozygous for a

recessive trait and do not show it,
you are a carrier
Homozygous: You inherit the same version of the gene from each parent, so
you have two matching genes. Heterozygous: You inherit a different version of
a gene from each parent. They do not match.
Punnett Square Summarizes Genetic Inheritance Process
Used to predict the probability of an offspring having a particular genotype

Dominant allele = B (purple

colour)
Recessive allele = b (white
colour)

Genetics:
1 out of 4 = BB (purple flower)
2 out of 4 = Bb (purple flower)
1 out of 4 = bb (white flower)

Appearance:
3 out of 4 are purple (BB, Bb)
1 out of 4 is white (bb)
 Punnett Square Summarizes Genetic
Inheritance Process
If parents, Susan and George, are carriers for blue eyes, what are the
chances of the baby having brown eyes? What about blue eyes?

Father
Dominant allele = B (brown eye
colour)
Recessive allele = b (blue eye
colour)

Genetics:
1 out of 4 = BB
Mother

2 out of 4 = Bb
1 out of 4 = bb

Appearance:
3 out of 4 (75%) are brown eye (BB,
Bb)
1 out of 4 (25%) is blue eye (bb)
 Genotype Mutations

• Genetic mutations result from

changes to genes of
chromosomes
• Some arise spontaneously
• Others are caused by
environmental agents

• Our cells have built-in defenses

against genetic changes. Some
genetic mutations cause no
serious problems, whereas
others can overwhelm our
defense mechanisms and
cause cancer and other
congenital (present at birth)
anomalies
 Genetic (Autosomal) Disorders

• Most hereditary disorders are

caused by autosomal defects
(from autosomes)

• Autosomal dominant vs.

autosomal recessive
• E.g. Cystic Fibrosis
(autosomal recessive disorder)

• People who have both a normal

and a ‘mutated’ allele for the CF
gene are carriers

• Disease phenotype arises when

both alleles are recessive

Cystic Fibrosis – hereditary disorder affecting exocrine glands (abnormally thick

mucous) →constant respiratory infection →destruction of lungs (lifespan ~37yrs)
 Critical Thinking Question

Stella is a carrier for sickle cell anemia. Her partner Tom is not a
carrier.

• She asks you what is the chance that her baby will be a carrier.
(hint: when we say “carrier”, that means the trait is recessive)
 Critical Thinking Question

Tabitha’s husband, Paul, has sickle cell anemia. Tabitha does not
have sickle cell anemia, but she does carry the trait.

• Tabitha and Paul want to know the chances of their offspring to

get sickle cell anemia before they try to conceive.

Codominance, as it relates to genetics, refers to a type of inheritance in which two versions (alleles) of the same gene are expressed
separately to yield different traits in an individual.
 Reproductive Physiology
Marieb Textbook

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 Review – Reproductive Organs

• Gonads—primary sex organs (the glands that produce

reproductive cells)
• Testes in males
• Ovaries in females

• Gonads produce gametes (sex cells) and secrete hormones

• Sperm — male gametes
• Ova (eggs) — female gametes

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 Male
Reproductive
Physiology
Figure 16.2a Male reproductive organs.

The whole reason for this structure of the male reproductive

system is to have a good system for creating, packaging,
storing and passing their DNA to their offspring

Seminal vesicle
Ampulla of
ductus deferens
Ejaculatory duct

Prostate
Bulbo-urethral gland

Ductus (vas) deferens

Epididymis
Testis
Scrotum

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 Spermatogenesis

• Process of making sperm cells (millions per day) (begins at puberty

and continues throughout life)
• Spermatogonia (stem cells) undergo rapid mitosis to produce more
stem cells before puberty
• During puberty, follicle-stimulating hormone (FSH) is secreted in
increasing amounts
• FSH is a tropic hormone that in males targets the testes and stimulates
sperm production
• Sperm are formed in the seminiferous tubules in the testes
Spermiogenesis is the process of transformation of spermatids into fully developed sperm cells with a head, neck middle piece and a tail.

Meiosis + Spermiogenesis = Spermatogenesis

Meiosis: Daughter cell B → Spermatids

Spermiogenesis: Spermatids → Sperm

Spermiogenesis is the final stage of spermatogenesis, and, during this phase, spermatids mature into spermatozoa (sperm cells) (Figure 2.5).
The spermiogenesis phase is completed with maturation of a spermatozoon.
Figure 16.3 Spermatogenesis.

Seminiferous
tubule
Basement
membrane
Spermatogonium 2n 2n Daughter cell type A
(stem cell) (remains at basement
Mitosis membrane as a stem cell)
2n
Growth Daughter cell type B
Enters (moves toward tubule
prophase of lumen)
meiosis I 2n
Primary

Meiosis
Meiosis I spermatocyte
completed
n n Secondary
Spermatogenesis

spermatocytes
Meiosis II
n n n n Early
spermatids
Spermiogenesis

n n n n Late spermatids

Sperm
n n n n

Lumen of
seminiferous
tubule

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 Spermatogenesis - Meiosis

Spermatogonium (2n)
Daughter A
Daughter B moves toward seminiferous tubule lumen
(remains as a stem cell)

Primary spermatocyte undergoes meiosis I

To form two secondary spermatocytes

Both secondary spermatocytes undergo meiosis II

To form a total of 4 spermatids (n)

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 Spermatogenesis vs Spermiogenesis

• Spermiogenesis:
• Streamlining process that strips excess cytoplasm
from a spermatid and modifies it into a sperm
• Mature sperm is compacted into three regions:
head, midpiece, tail

• The entire process of spermatogenesis, including

spermiogenesis, takes 64 to 72 days

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Figure 16.5b Structure of sperm.

Provides genetic
Provides instructions and a
energy for means of penetrating
mobility the follicle cell
capsule and
Plasma membrane oocyte membrane
Neck
Provides Tail
for mobility Head
Midpiece

Axial filament Acrosome

of tail
Nucleus
Mitochondria

Proximal centriole

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Figure 16.5a Structure of sperm.

(a)

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Figure 16.6 Hormonal control of the testis. Slide 1
Hypothalamus 1 The hypothalamus releases
gonadotropin-releasing hormone
1
(GnRH).
GnRH
Anterior 2 GnRH stimulates the anterior
pituitary pituitary to release gonadotropins
—FSH and LH.
3 FSH stimulates spermatogenic
5 cells to produce sperm.
2 4 LH stimulates the interstitial
cells to release testosterone,
FSH LH which serves as the final trigger
Testosterone for spermatogenesis.
3 4 Testosterone then enhances
5 spermatogenesis.

5 Rising level of testosterone

exerts feedback inhibition on the
hypothalamus and pituitary.

Testosterone Primary and secondary

sex characteristics

Supporting cell Seminiferous

tubule in testis
FSH and
testosterone
stimulate
sperm
production

Spermatogenic
cells
Spermatogenesis

KEY:
Stimulates
Inhibits

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 Question

• What is the role of: • Do you remember where these

• Gonadotropin-releasing hormones are released?
hormone (GnRH): • GnRH released by hypothalamus
• Stimulates anterior pituitary
to release FSH and LH • FSH and LH released by Ant.
• FSH: Pituitary
• Stimulates spermatogenic • Testosterone released by testes
cells to produce sperm (interstitial cells in seminiferous
• LH: tubules )
• Stimulates interstitial cells in
seminiferous tubules to • How does negative feedback work
release testosterone
• Testosterone: with testosterone?
• Final trigger for • Rising levels of testosterone
spermatogenesis exerts feedback inhibition on the
• Stimulates growth spurt, hypothalamus and anterior
primary sex characteristics pituitary glands.
and secondary characteristics
 Critical Thinking Question
Some bodybuilders & athletes use anabolic
steroids (anabolic-androgenic steroids) to grow
muscle and enhance performance. These
chemically resemble testosterone.
But what are other effects?
• Increased cholesterol atherosclerosis
• Deteriorating circulation gangrene
• Liver problems cancer and other effects
• Suppresses immune system infection,
cancer
• Women: masculinization facial hair,
enlarged clitoris, atrophy of breasts & uterus,
irregular ovulation & menstruation
• Men: feminization breast enlargement,
testes atrophy, impotence, low sperm count,
infertility
 Time for a Short Break!

After the Break:

• Female reproductive physiology
 Female
Reproductive
Physiology

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Figure 16.8a The human female reproductive organs.

Infundibulum
Uterine tube
Ovary
Fimbriae
Uterus (fundus)
Round ligament

Cervix
Vagina
Clitoris

(a)

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© 2015 Pearson Education, Inc.
Figure 16.7 Sagittal view of a human ovary showing the developmental stages of an ovarian follicle.
Primary oocyte
Primary follicle Growing follicles
Ovarian follicles
Degenerating secrete estrogen
corpus luteum

Blood
vessels
Antrum
Corona
radiata

Mature vesicular
(Graafian) follicle
Secretes
Germinal
progesterone
epithelium
Corpus luteum
Developing Ruptured Ovulation Secondary oocyte
corpus luteum follicle

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 Ovaries

• Primary follicle—contains • Ovulation—the follicle

an immature oocyte ruptures when the egg is
mature and ready to be
• Vesicular (Graafian) ejected from the ovary;
follicle—growing follicle occurs about every 28 days
with a maturing oocyte
• The ruptured follicle is
transformed into a corpus
luteum

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 Oogenesis and the Ovarian Cycle

• Oogenesis is the process of producing ova (eggs) in a

female
In female fetus:
• Oogonia are female stem cells found in a developing fetus
• Oogonia undergo mitosis to produce primary oocytes that
are surrounded by a single layer of cells that form primary
follicles in the ovary
• Oogonia stem cells will no longer exist at birth
• At birth, the lifetime supply of primary oocytes is already in
place in ovarian follicles. They remain inactive until puberty.

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 Oogenesis and the Ovarian Cycle

Monthly from puberty to menopause:

• At puberty, release of follicle stimulating hormone (FSH) causes
some primary follicles to mature each month in preparation for
ovulation
• Cyclic monthly changes in the ovary constitute the ovarian cycle
– spike in FSH and LH around day 14 of ovarian cycle to cause
ovulation

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Figure 16.12a Hormonal interactions of the female cycles.

Plasma hormone level

LH

FSH

Days 1 5 10 15 20 25 28
(a) Fluctuation of gonadotropin levels: Fluctuating levels
of pituitary gonadotropins (FSH and LH) in the blood
regulate the events of the ovarian cycle.
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Figure 16.10 Events of oogenesis.
Meiotic Events Follicle Development
Before birth in Ovary
2n Oogonium (stem cell)
Follicle cells
Mitosis Oocyte
2n Primary oocyte Primary
follicle
Growth

2n
Primary oocyte Primary
(arrested in prophase I; follicle
present at birth)
Childhood (ovary inactive)
Monthly from
puberty to menopause Primary
follicle
2n Primary oocyte
(still arrested in Growing
prophase I) follicle

Mature
Meiosis I (completed by one vesicular
primary oocyte each month) Secondary oocyte (Graafian)
(arrested in follicle
First polar body n metaphase II)
Ovulation
Sperm Ovulated
secondary
Meiosis II of polar body
oocyte
(may or may not occur) Meiosis II completed
(only if sperm
n penetration occurs)
Polar bodies n n n
(all polar bodies Second Ovum
degenerate) polar body
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 Oogenesis

• Meiosis II is completed after • Once ovum is formed, the

ovulation only if sperm 23 chromosomes can be
penetrates the oocyte combined with the 23
chromosomes of the sperm
• Ovum is produced to form the fertilized egg
• Two additional polar (zygote)
bodies are produced
• If the secondary oocyte is
not penetrated by a sperm,
it dies and does not
complete meiosis II to form
an ovum
• Instead is shed with the
menstrual cycle

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 Male and Female Differences

• Meiosis • Sex cell size and structure

• Males—produces four • Sperm are tiny, motile, and
functional sperm equipped with nutrients in
seminal fluid
• Females—produces one
functional ovum and three • Egg is large, non-motile, and
tiny polar bodies has nutrient reserves to
nourish the embryo until
implantation

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 Uterine (Menstrual) Cycle

• Cyclic changes of the endometrium about 28 days in

length
• Regulated by cyclic released of estrogens and
progesterone produced by the ovaries
• FSH and LH, from the anterior pituitary, regulate the
production of estrogens and progesterone by the
ovaries
• Typically about 28 days long, similar to ovarian cycle
• Ovulation typically occurs about midway through
cycle, on day 14

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 Uterine (Menstrual) Cycle

Proliferative
Menstrual phase Secretory phase
phase
• Days 1-5 • Days 6-14 • Days 15-28
• Endometrium • Estrogen levels • Rise in
sloughed off rise progesterone
• Hormones at • Regeneration of (from corpus
lowest levels endometrium luteum)
• By day 5, • Ovulation at end • Endometrium is
growing follicles of this stage more vascular
produce more and ready for
estrogen implantation

https://www.youtube.com/watch?v=Is1LOacgWkc
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Figure 16.12c Hormonal interactions of the female cycles.

Plasma hormone level

Estrogens

Progesterone

Days 1 5 10 15 20 25 28
(c) Fluctuation of ovarian hormone levels: Fluctuating
levels of ovarian hormones (estrogens and progesterone)
cause the endometrial changes of the uterine cycle.
The high estrogen levels are also responsible for the
LH/FSH surge.

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Figure 16.12d Hormonal interactions of the female cycles.
Endometrial Blood vessels
glands

Basal layer Functional layer

Menstrual
flow

1 5 10 15 20 25 28 Days
Menstrual Proliferative Secretory
phase phase phase

Estrogen Progesterone
(d) The three phases of the uterine cycle:
• Menstrual: Shedding of the functional layer of the endometrium.
• Proliferative: Rebuilding of the functional layer of the endometrium.
• Secretory: Begins immediately after ovulation. Enrichment of
the blood supply and glandular secretion of nutrients prepare
the endometrium to receive an embryo.

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 Hormone Production by the Ovaries

• FSH • What are the female

• stimulates a small number of primary
follicles to grow and mature each
month
secondary sex
characteristics?
• LH • Breasts
• causes ovulation
• Axillary and pubic hair
• Estrogen • Widening of the pelvis
• produced by primary follicle cells • Onset of menses
• regeneration of endometrium during (menstrual cycle)
proliferative phase
• causes female secondary sex
characteristics

• Progesterone
• produced by corpus luteum
• maintain endometrium during
secretory phase

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Figure 16.7 Sagittal view of a human ovary showing the developmental stages of an ovarian follicle.

Primary follicle Growing follicles

Estrogen
Degenerating
corpus luteum

Blood
vessels
Antrum
Corona
radiata

Mature vesicular
(Graafian) follicle

Germinal
epithelium
Corpus luteum
Developing Ruptured Ovulation Secondary oocyte
corpus luteum follicle

Progesterone
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Figure 16.4 The human life cycle.

What is the path of the egg from ovulation to Gametes (n = 23)

implantation quizlet?
Ovum -> ovary -> fallopian tube -> fertilized egg ->
uterus -> implants in the uterine lining
n
Egg

n
Sperm
Meiosis Fertilization

Multicellular
adults Zygote 2n
(2n = 46) (2n = 46)

Mitosis and
development

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