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Chapter 29

Development and
Inheritance

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Developmental Biology
Developmental biology is the study of the sequence of
events from the fertilization of a mature ovum by a
sperm cell to the formation of an adult organism
o The embryonic period is from fertilization through the
eighth week of development
o The fetal period begins at week 9
and continues until birth
o The neonatal period covers
the first 28 days after birth
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Fertilization
For about seven hours after ejaculation, sperm are not
capable of fertilization. In a process called capacitation,
the sperm involved in the final action undergo a series
of functional changes that cause their tails to beat even
more vigorously and prepare their plasma membranes
to fuse with that of the 2o oocytes
o Only capacitated sperm are capable of responding to
the chemical factors produced by the surrounding
cells of the ovulated oocyte
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Fertilization
At this stage, one capacitated sperm must penetrate the
corona radiata (granulosa cells left over from the 3o
follicle) and the zona pellucida (a clear glycoprotein layer
between the corona radiate and oocyte plasma
membrane)
o Acrosomal enzymes and
strong movements help
with penetration

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Fertilization
Fusion of sperm cell with the plasma membrane of the 2o
oocyte results in syngamy, a process that blocks
polyspermy fertilization by more than one sperm
o In a fast block to polyspermy the oocyte cell membrane
depolarizes so another
sperm cannot fuse
o Slow block to polyspermy occurs
as molecules released in the fast
block harden the zona pellucida
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Fertilization
Depolarization changes happen quickly to the oocytes
plasma membrane once penetrated by a sperm syngamy
is beautifully
depicted in this color
photomicrograph of
a starfish egg induced
by a fertilizing sperm

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Fertilization
Once a sperm cell enters a secondary oocyte, the oocyte
must quickly complete meiosis II
o It divides into a larger ovum (mature egg) and a smaller
second polar body that fragments and disintegrates
o The male and female pronuclei
fuse, producing a single
diploid nucleus

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Fertilization
Fertilization occurs as the genetic material (pronucleus)
from the haploid sperm and haploid ovum merges to
form a single diploid zygote, the first embryonic stage
o Normally this event takes
place in the uterine tubes,
and the growing ball of
cells has 45 days before
it implants in the
uterine cavity
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Fertilization
Fertilization

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The Embryonic Period
Cleavage is the rapid mitotic division of the zygote,
starting the first week of development
o Blastomeres are progressively smaller cells produced by
cleavage

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The Embryonic Period
3-4 days after fertilization a solid
ball of cells forms called the morula,
followed a day later by the
blastocyst (a hollow ball of cells
that enters the uterine cavity)
o Implantation is the attachment
of the blastocyst to the
endometrium 78 days after
fertilization

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The Embryonic Period
The first weeks events are summarized here
o The decidua is the portion of the endometrium that is
modified after
implantation

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The Embryonic Period
The blastocyst attaches to the endometrium oriented in
such a way that the developing inner cell mass is directed
toward the endometrium
o As the blastocyst burrows its
way in, the endometrium
responds by becoming
more vascularized
and the endometrial
glands enlarge
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The Embryonic Period
The growth of the developing embryo continues to
accelerate as it quickly passes through a number of
successive stages that result in the formation of a
trilaminar embryonic disc and 4 extraembryonic
membranes
o The embryonic disc is composed of cells which
develop to become the fetus
o The extraembryonic membranes are the amnion , the
yolk sac, the allantois, and the chorion
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The Embryonic Period
The trilaminar embryonic disc, which is visible as early
as 3 weeks post-fertilization, develops into the 3
primary germ layers, from which all the tissues of the
embryo derive
o The ectoderm is
the superficial layer
o The mesoderm is in
the middle
o The endoderm forms the inner layer
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The Embryonic Period
Ectoderm differentiates into the tissues of the brain and
nerves, and the epidermis of the skin
Mesoderm is a loosely organized connective tissue
(mesenchyme) that matures to form blood, muscles,
bones, and other connective tissue derivatives
Endoderm gives rise to the epithelial lining of the
digestive tract, respiratory tract, and several other
organs; also the smooth endothelial lining of blood
vessels
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The Embryonic Period
Of the 4 extraembryonic membranes, the:
o Amnion is the innermost - it forms a protecting bag
of waters (amniotic cavity) around the embryo
o Yolk sac becomes the site of early blood formation
o Allantois helps form the umbilical cord
o Chorion is the outermost - it forms the fetal portion
of the placenta and takes over production of hCG
(which continues to rescue the corpus luteum from
degeneration and sustains its secretion of
progesterone and estrogens)
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The Embryonic Period

Structures developing from the 4 extraembryonic membranes.


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The Embryonic Period
The placenta is unique because it develops from two
separate individuals, the mother and the fetus
o The placenta is the site of nutrient and waste
management, yet prevents any mixing of fetal and
mothers blood
It also begins to take over the job of hormone

secretion (hCG, estrogen, progesterone) as the


corpus luteum in the ovary gradually atrophies.

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The Embryonic Period
The placenta is formed by the chorionic villi of the
embryo and the decidua basalis of the endometrium of
the mother. Throughout the remainder of pregnancy, it
is responsible for maintaining the uterine environment
and preparing
the mammary
glands for
breast feeding

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The Fetal Period
The fetal period occupies the remainder of pregnancy,
from the 9th through the 40th week
o Tissues and organs that developed during embryonic
period continue to grow and differentiate

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The Fetal Period
For the fetus, very few new structures appear;
consequently, the fetus is less vulnerable to the
damaging effect of drugs, radiation, and microbes
o The rate of fetal growth is remarkable: During just the
last 2.5 months of intrauterine life, half of the full-term
weight is added. The head becomes more
proportionate to the rest of the body
o By week 34 the fetus usually assumes an upside-down
position in preparation for labor and delivery
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Stages of Development
(Interactions Animation)
Developmental Stages

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Hormones of Pregnancy
During the first trimester of pregnancy, the corpus
luteum secretes the estrogen and progesterone necessary
to maintain the lining of the uterus and prepare the
mammary glands to secrete milk
o Early on, the developing chorion begins to secrete
hCG to maintain the corpus luteum
o From the 3rd month on, however, the placenta is
producing its own high levels of estrogens and
progesterone, and takes over the job completely as
the corpus luteum eventually gives out
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Hormones of Pregnancy
Human placental lactogen (hPL) is also produced by the
chorion. It helps prepare the mammary glands for
lactation and regulates certain aspects of fetal and
maternal metabolism
Normally only released by the hypothalamus, CRH is
secreted by the placenta. It is though to be part of the
developmental clock that establishes the timing of
birth, and it increases the secretion of cortisol needed for
maturation of fetal lungs and production of surfactant
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Hormones of Pregnancy
Relaxin is produced by both the corpus luteum and the
placenta. It increases the flexibility of the pubis and
helps dilate
the cervix
during labor

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Pregnancy
Hormonal Regulation of Pregnancy

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Changes During Pregnancy
In full-term pregnancy, the uterus fills nearly the entire
abdominal cavity. Major physiological changes include:
o Weight gain due to the fetus and the amniotic fluid
o Increased storage of
proteins, triglycerides
and minerals
o Breast enlargement
o Pronounced spinal
lordosis often
leading to back pain
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Changes During Pregnancy
Changes in the cardiovascular system include a 30%
increase in circulating blood volume and red cell mass
(due to increased demands placed by the fetus). Cardiac
output rises by 2030% to increase blood flow (to the
placenta) and to meet the added metabolic burdens
Minute ventilation (respiratory) can increase up to 40%
to supply additional oxygen to maternal and fetal
tissues

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Changes During Pregnancy
The digestive system and brain appetite centers are
liable for the increased energy loads imposed by the
fetus
The urinary system increases GFR to eliminate the
additional waste from rapidly dividing tissues
o Pressure on the urinary bladder by the enlarging
uterus can produce urinary symptoms, such as
increased frequency and urgency of urination, and
stress incontinence Copyright John Wiley & Sons, Inc. All rights reserved.
Labor
Labor is the bringing of the fetus to birth (to delivery).
The onset is determined by interactions between several
placental and fetal hormones
o Levels of estrogen rise
sharply at the end of
pregnancy to overcome
the inhibiting effect
of progesterone on
uterine contractions

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Labor
High levels of estrogens also increase the number of
oxytocin receptors on the uterine muscle fibers. This
makes the uterus more sensitive to the contractions
induced by oxytocin at the same time that relaxin is
released to dilate the cervix
o Once begun, the process of labor is accentuated
through positive feedback mechanisms
Labor is divided into 3 distinct stages

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Labor
Stage 1 is the Stage of dilation: the time from the onset
of labor to the complete dilation of the cervix
o This stage is normally the longest, typically lasting 6-
12 hours, and sometimes much longer. Often stage 1
can be hastened
by intentionally
rupturing the
amniotic
membranes

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Labor
Stage 2 is the Stage of expulsion
o Contractions force the fetal head into the cervix,
stretching it. Stretch receptors cause release of more
oxytocin, which in turn leads to stronger, more
frequent contractions
and more stretching
o The cycle is broken
only when delivery is
accomplished and all
stimuli cease
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Labor
Stage 3 is the Placental Stage, the 530 minutes (or
more) after delivery until the placenta or afterbirth is
expelled by powerful uterine contractions

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Labor
Regulation of Labor and Birth

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Physiology of Lactation
Lactation is the production and ejection of milk from
the mammary glands
o A principal hormone in promoting milk production is
prolactin (PRL) from the anterior pituitary gland
o Even though prolactin levels increase as the
pregnancy progresses, no milk production occurs
because progesterone inhibits the effects of prolactin
After delivery the inhibition is removed

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Physiology of Lactation
The milk ejection reflex is initiated when touch
receptors in the nipple are stimulated, sending sensory
nerve impulses to the hypothalamus,
and causing release of oxytocin
o Carried by the blood-
stream to the mammary
glands, oxytocin
stimulates contraction
of the glandular cells and ducts in the breast
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Physiology of Lactation
Before the appearance of true
milk on the 4th day, the lactating
breast secretes a cloudy fluid
called colostrum which contain
important antibodies
o Lactation often blocks ovarian
cycles for few months
after delivery, though it is not a
reliable form of birth control
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Neonatal Adjustments
At birth, a number of important cardio-respiratory
changes occur in the neonate
o Respiratory adjustments are the most conspicuous as
the first deep, vigorous inspiration inflates the
collapsed lungs for the first time
o The cardiovascular changes are also pronounced
Decreased pulmonary vascularity closes the

foremen ovale and reverses blood flow through the


ductus arteriosus as blood is diverted to the lungs
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Genes and
Inheritance

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Meiosis
Except for the sperm and oocytes (gametes), during
development and afterwards, all body cells have 46 total
chromosomes: The 2n number is 23 x 2 = 46
o Through the process of mitosis, all of the somatic
cells replicate
Gametes are produced by a process called meiosis, which
is more complex than simple mitotic division because it
has two separate cycles of division

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Meiosis
Meiosis I is a reductive division from 2n to n
o The homologous
chromosomes are
segregated from each
other, then two haploid
cells are formed, each
containing one of the
segregates

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Meiosis
Meiosis II consists of decoupling each chromosome's
sister strands (chromatids), then segregating the DNA
into two sets (each set having
one of each homologue)
o Two haploid cells with
replicated sister chromatids
go to form four haploid cells
with single, unreplicated
molecules of DNAs
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Meiosis
This summary of meiosis
shows both rounds of
division resulting in
four haploid cells
(containing half
the genetic
content of the
original cell)

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Inheritance
The complexity associated with the production of
gametes by reductive division (meiosis), sex,
fertilization to form a zygote, and growth and delivery
of a full term infant all support the overarching goal of
passing hereditary traits from one generation to the
next. It is a necessity no species can live without
o The branch of biology that deals with inheritance is
called genetics

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Inheritance
When the diploid number of chromosomes (2n) is
reconstituted in a fertilized ovum, one chromosome in
each pair came from the mother, and the other came
from the father - these are called homologous
chromosomes. Each pair in this genetic sampling of a
human cell is a
homologous pair

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Inheritance
Each of the two homologues contains genes that
control the same traits (make the same proteins),
though they do so with individual variation
characteristic of our species
o Alternative forms of a gene that code for the same
trait and are at the same location on homologous
chromosomes are called alleles

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Inheritance

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Inheritance
For this example, suppose the homologous chromosomes each
contain a gene that codes for blood type, with possible alleles
being A, B, AB, or nothing (O the gene for that protein is
missing). The
possible results in the
children are shown,
corresponding to
the possible traits
of the parents

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Inheritance
A person with the same alleles on homologous
chromosomes (for example, AA or aa) is said to be
homozygous for that gene
An individual with different alleles on homologous
chromosomes (Aa) is said to be heterozygous for that
gene (or trait, or protein same thing)
o In this representation, a man heterozygous for the
A gene has sperm with both
A and a alleles

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Inheritance
The genotype refers to genetic makeup of an individual;
the phenotype refers to their physical or outward
appearance (the expression of the gene)
o Most genes give rise to the same phenotype whether
they are inherited from the mother or the father. In a
few cases, however, the phenotype is dramatically
different, depending on the parental origin (eye color,
hair color, cleft chin, or height)

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Inheritance
An allele that dominates or masks the presence of
another allele and is fully expressed (for example the
trait P) is said to be a dominant allele, and the trait
expressed is called a dominant trait
An allele whose presence is completely masked (p in
this example) is said to be a recessive allele, and the trait
it controls is called a recessive trait.
A person with Pp (a heterozygote) has a different
genotype from a person with PP (a homozygote), but
both have the same phenotype
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Inheritance
Alleles that code for normal traits are not always
dominant. For instance, the gene that codes for 6 fingers
on a hand is dominant: Fortunately, it is uncommon in
the gene pool, and most of us are homozygous recessive
The probability of combining different alleles can be
worked out using a device called a Punnett square
o In constructing a Punnett square, the possible paternal
alleles in sperm are written at the top and the possible
maternal alleles in in are written on the left side
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Inheritance
The four spaces on the chart show how the alleles can
combine in the zygotes formed from the union of the
different sperm and ova to produce a variety of gene
combinations (genotypes)
o The Punnett square for
inheriting the aa
recessive albinism
trait is shown in
this graphic
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Inheritance
Aneuploidy is when an individual is born with
chromosomes added or missing
o In monosomy the cells are missing 1 chromosome
o In trisomy cells have an additional chromosome. A
common trisomy is Down Syndrome (trisomy 21)
where the cells
have three of
the number 21
chromosome

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Inheritance
Like eye color, skin color, and body build, most of the
traits we display follow a polygenic inheritance where
the phenotype is a product of multiple genes and often
also environmental factors. For example:
o Even if a person inherits several genes for tallness,
full height can only be reached with adequate
nutrition
o Neural tube deficits are more common if the mother
lacks adequate folic acid in the diet
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Amniocentesis
An amniocentesis is a medical procedure that samples
amniotic fluid through a puncture of the amniotic sac
o Sloughed-off fetal cells
within the fluid can
be sampled for
chromosome defects
Up to 350

abnormalities can
be identified
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End of Chapter 29
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