Chapter 29:

Development and
Inheritance

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Embryonic period

First week of development

Fertilization

Genetic material from haploid sperm and haploid secondary

oocyte merges into single diploid zygote
Normally occurs in uterine (fallopian) tubes
Sperm undergo capacitation series of functional changes
that prepare its plasma membrane to fuse with oocytes
Sperm must penetrate coronoa radiata (granulosa cells) and
zona pellucida (clear glycoprotein layer between corona
radiate and oocyte plasma membrane)
Acrosomal enzymes and strong movements help with
penetration

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Selected structures and events

in fertilization

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First week of development

(cont.)
Fusion of sperm cell and oocyte sets in motion
events to block polyspermy fertilization by more
than one sperm

Fast block to polyspermy oocyte cell membrane

depolarizes so another sperm cannot fuse

Also triggers exocytosis of secretory vesicles

Slow block to polyspermy molecules released in

exocytosis harden entire zona pellucida

Oocyte must complete meiosis

Divides into ovum and polar body (disintegrates)

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First week of development

(cont.)

Male pronucleus and female pronucleus fuse to

form single diploid (2n) zygote with 46
chromosomes
Dizygotic (fraternal) twins are produced by the
release of 2 secondary oocytes and fertilization by
separate sperm

As genetically dissimilar as any other siblings

Monozygotic (identical) twins develop form a

single fertilized ovum they have exactly the
same DNA

Late separation results in conjoined twins

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First week of development

(cont.)

Cleavage of zygote

Rapid mitotic cell divisions after zygote forms

First division begins 24 hours after fertilization and takes
6 hours
Each succeeding division takes less time
Blastomeres progressively smaller cells produced by
cleavage
Morula solid sphere of cells

Still surrounded by zona pellucida

About same size as original zygote

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First week of development (cont.)

Blastocyst formation

Morula moves through uterine tubes toward uterus

Day 4 or 5 reaches uterus
Uterine milk glycogen-rich secretions of endometrial glands
nourishes morula
Blastocyst at 32-cell stage, fluid collects and forms blastocyst
cavity or blastocoel
2 distinct cell populations

Embryoblast or inner cell mass develops into embryo

Trophoblast outer layer that forms wall and will ultimately develop
into outer chorionic sac surrounding fetus and fetal portion of
placenta

Day 5 hatches from zona pellucida

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Cleavage and the formation of

the morula and blastocyst

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Implantation

About 6 days after

fertilization attaches to
endometrium
Orients inner cell mass
toward endometrium
7 days after fertilization
attaches more firmly and
burrows in

Endometrium becomes
more vascularized and
glands enlarge

Decidua modified portion

of endometrium after
implantation

Regions named relative to

site of implantation

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Relationship of a blastocyst to
the endometium of the uterus at
implantation

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Summary of events associated

with the first week of
development

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Second week of development

Development of trophoblast

About 8 days after fertilization, trophoblast develops into

2 layers in region of contact between blastocyst and
endometrium

Become part of chorion

Blastocyst becomes buried in endometrium and inner 1/3

of myometrium
Secretes human chorionic gondadotropin (hCG) that
maintains corpus luteum so it continues to secrete
estrogens and progesterone

Maintains uterine lining

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Second week of development

(cont.)

Development of bilaminar embryonic disc

Cells of embryoblast also differentiate into 2 layers

around 8 days after fertilization

Hypoblast (primitive endoderm)

Epiblast (primitive ectoderm)
Small cavity enlarges to form amniotic cavity

Development of amnion

Amnion forms roof of amniotic cavity and epiblast

forms floor
Amnion eventually surrounds entire embryo

Amniotic cavity filled with amniotic fluid

Fluid derived from maternal blood and later fetal urine
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Principal events in the second

week of development

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Second week of development

(cont.)

Development of yolk sac

Also on 8th day after fertilization, cells at edge of

hypoblast migrate to cover inner surface of blastocyst
wall
Form exocoelomic membrane
Yolk sac hypoblast and exocoelomic membrane

Relatively small and empty since nutrition derived from

endometrium
Several important functions supplies early nutrients,
source of blood cells, contains primordial germ cells that
migrate to gonads to form gametes, forms part of gut,
functions as shock absorber, prevents desiccation
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Second week of development

(cont.)
Development of sinusoids

Development of extraembryonic coleom - about 12th day after

fertilization

9th day after fertilization, blastocyst completely embedded in

endometrium
Syncytiotrophoblast expands and spaces (lacunae) develop
12th day lacunae fuse to form lacunar networks
Endometrial capillaries dilate to form maternal sinusoids

Fuse to form single large cavity

Development of chorion

Formed by extraembryonic mesoderm and 2 layers or trophoblast

Becomes principal embryonic part of placenta
Protect embryo from immune responses of mother
Produces hCG
Connecting (body) stalk connects bilaminar embryonic disc to
trophoblast will become umbilical cord
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Third week of development

Begins 6 week period of rapid development and

differentiation
Gastrulation

1st major event of 3rd week about 15 days

Bilaminar embryonic disc transforms into trilaminar
embryonic disc
Ectoderm (skin and nervous system), mesoderm (muscle,
bones, connective tissues, peritoneum), and endoderm
(epithelial lining of GI tract, respiratory tract, and several
other organs)
Involves rearrangement and migration of epiblast cells
Primitive streak establishes head (primitive node) and tail ends

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Gastrulation

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Third week of development

(cont.)

Gastrulation (cont.)

16 days after fertilization notochord forms induces tissue to

become vertebral bodies
2 depressions form

Oropharyngeal membrane will later break down to connect mouth

to pharynx and GI tract
Cloacal membrane will later degenerate to form openings of anus,
urinary and reproductive tracts

When cloacal membrane appears, wall of yolk sac forms

allantois

Extends into connecting stalk

In most other mammals used for gas exchange and waste
removal human placenta does this instead
Does function in early formation of blood and blood vessels and
urinary bladder

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Development of the notochordal

process

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Third week of development (cont.)

Neurulation

Notochord also induces formation of neural plate

Edges of plate elevate to form neural fold
Neural folds fuse to form neural tube
Develop into brain and spinal cord
Neural crest cells give rise to spinal and cranial nerves and
ganglia, autonomic nervous system ganglia, CNS meninges,
adrenal medullae and several skeletal and muscular
components of head

Head end of neural tube develops into 3 primary

brain vesicles

Prosencephalon (forebrain), mesencephalon (midbrain), and

rhombencephalon (hindbrain)
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Third week of development

(cont.)

Development of somites

Mesoderm adjacent to notochord and neural tube forms

paired longitudinal columns of paraxial mesoderm
Segment into paired, cube-shaped somites
Number of somites can be correlated to age of embryo
Each somite has 3 regions

Myotome develops into skeletal muscles of neck, trunk and limbs

Dermatome develops into connective tissue
Sclerotome - develops into vertebrae and ribs

Development of intraembryonic coelom

Splits lateral plate mesoderm into

Splanchnic mesoderm forms heart, blood vessels, smooth

muscle and connective tissues of respiratory and digestive
systems
Somatic mesoderm gives rise to bones, ligaments, dermis of skin
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Neurulation and the

development of somites

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Third week of development

(cont.)

Development of cardiovascular system

Angiogenesis formation of blood vessels

Spaces develop in blood islands to form lumens of blood vessels

Pluripotent stem cells form blood cells

By end of 3rd week, heart forms and begins to beat

Development of chorionic villi and placenta

Chorionic villi fingerlike projections of chorion projecting into

endometrium
Blood vessels in chorionic villi connect to embryonic heart
through body stalk (becomes umbilical cord)
Maternal and fetal blood do not mix diffusion only

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Development of chorionic
villi

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Placentation

Process of forming placenta

By beginning of 12th week has 2 parts

Functionally allows oxygen and nutrients to diffuse from

maternal to fetal blood while carbon dioxide and wastes
diffuse from fetal to maternal blood
Not a protective barrier allows microorganisms, drugs,
alcohol to pass
Connection between embryo and placenta through umbilical
cord

Fetal portion formed by chorionic villi of chorion

Maternal portion formed by decidua basalis of endometrium

2 umbilical arteries carry deoxygenated fetal blood to placenta

1 umbilical vein carries oxygenated blood away from placenta

Afterbirth placenta detaches from uterus

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Placenta and umbilical cord

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Fourth week of development

4th -8th week - all major organs develop

Organogenesis formation of body organs and
systems
Embryo triples in size this week
Converted from flat disc to 3D cylinder through
embryonic folding

Main force is different rates of growth for different parts

Head fold brings heart and mouth into eventual adult

position
Tail fold brings anus into eventual adult position
Lateral folds for primitive gut forerunner of GI tract
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Embryonic folding

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4th week (cont.)

Somite and neural tube

development
Pharyngeal (branchial)
arches, clefts and pouches
give rise to specific
structures in head and neck

1st pharyngeal arch forms

jaw

Otic placode future

internal ear
Upper and lower limb buds
appear distinct tail

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5th 8th weeks of development

During 5th week brain develops rapidly so head growth

considerable
Limbs show substantial development by end of 6th
week

Heart now 4-chambered

8th week

Digits of hands are short and webbed by the end of the week
the webbing dies (apoptosis)
Tail shorter and disappears by end of week
Eyes open eyelids come together and may fuse
Auricles of ear visible
External genitals begin to differentiate
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Fetal period

During this period, tissues and organs the

developed during embryonic period grow and
differentiate
Very few new structures appear
Rate of body growth remarkable
Fetus less vulnerable to damaging effect of
drugs, radiation, and microbes

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Summary of changes during

embryonic and fetal
development

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Summary of changes during

embryonic and fetal
development

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Summary of events of the

embryonic and fetal periods

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Maternal changes during

pregnancy
Hormones of pregnancy

1st 3-4 months of pregnancy, corpus luteum continues to

secrete estrogens and progesterone

3rd month on, placenta produces high levels of estrogens

and progesterone
Chorion secretes human chorionic gonadotropin (hCG)

Maintains lining of uterus and prepares mammary glands to

secrete milk

Maintains corpus luteum

Relaxin produced by corpus luteum and placenta

Increases flexibility of pubic symphysis

Helps dilate cervix during labor
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Hormones during pregnancy

Human chorionic somatomammotropin (hCS) or

human placental lactogen (hPL) produced by
chorion

Helps prepare mammary glands for lactation

Regulates certain aspects of fetal and maternal
metabolism

Corticotropin-releasing hormone (CRH) produced

by placenta

In nonpregnant people secreted only by hypothalamus

Though to be part of clock establishing timing of birth
Increases secretion of cortisol needed for maturation of
fetal lungs and production of surfactant
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Hormones during pregnancy

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Changes during pregnancy

By the end of a full-term pregnancy, uterus fills nearly the entire

abdominal cavity
Physiological changes

Weight gain due to fetus, amniotic fluid

Increased storage of proteins, triglycerides and minerals
Marked breast enlargement
Lower back pain lordosis

Changes in cardiovascular system due to increased maternal

blood flow to placenta and increased metabolism
Respiratory functions change to meet added oxygen demands of
fetus
Digestive system increased appetite to meet energy demands
of fetus
Urinary system pressure on bladder can cause incontinence

Increased renal filtering to eliminate wastes from fetus

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Normal fetal location and

position at the end of a full-term
pregnancy

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Labor or parturition

Process by which fetus expelled from uterus through vagina

Onset determined by interactions between several placental and
fetal hormones
Levels of estrogen must rise to overcome inhibiting effect of
progesterone on uterine contractions
High levels of estrogens increase number of receptors for
oxytocin on uterine muscle fibers
Oxytocin stimulates contractions
Relaxin increases flexibility of pubic symphysis and dilates cervix
Control of labor through positive feedback cycle
Contraction force fetal head into cervix which stretches
Stimulated stretch receptors cause release of more oxytocin
More oxytocin, more stretching
Cycle broken when stretching stops as baby exits
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Stages of true labor

True labor begins when

uterine contractions
occur at regular
intervals

As interval shortens,
contractions intensify
3 stages

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Adjustments of infant after

Respiratory adjustments
birth
Fetal lungs collapsed or partially filled with amniotic fluid

Respiratory system fairly well developed at least 2 months before

birth
Rising CO2 level in blood after delivery stimulates repsiratory center
in medulla oblongata causes respiratory muscle to contract
First inspiration is unusually deep with vigourous exhalation and
crying

Cardiovascular adjustments

Closure of foramen ovale between atria of fetal heart occurs at

moment of birth

Ductus arteriosus constricts and becomes ligamentum arteriosum

Diverts blood to lungs for the first time

Remnant called fossa ovalis
Generally does not close completely for 3 months

Umbilical arteries become medial umbilical ligaments

Umbilical vein becomes round ligament of the liver
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Physiology of lactation

Secretion and ejection of milk from mammary glands

Prolactin principal hormone promoting milk
synthesis and secretion

Secreted by anterior pituitary

Prolactin levels rise during pregnancy but progesterone
inhibits effects of prolactin
After delivery, inhibition removed as estrogen and
progesterone levels fall
Principal stimulus maintaining prolactin secretion is sucking
action of infant

Impulses from stretch receptors decrease release of prolactininhibiting hormone (PIH) and increases release of prolactinreleasing hormone (PRH) from hypothalamus
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The milk ejection reflex

Oxytocin causes milk ejection

reflex

Colostrum before
appearance of true milk on 4th
day

Suckling, hearing baby cry,

touching mothers genitals can
initiate

Contain important antibodies

Lactation often blocks ovarian

cycles for few months after
delivery
Primary benefit of breastfeeding is nutritional

Other benefits also

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Inheritance

Passage of hereditary traits from one generation to

the next
Genotype and phenotype

Nuclei of all human cells except gametes contain 23 pairs

of chromosomes diploid or 2n
One chromosome from each pair came from father, other
member from mother
Each chromosome contains homologous genes for same
traits
Allele alternative forms of a gene that code for the same
trait
Mutation permanent heritable change in allele that
produces a different variant
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Phenylketonuria or PKU
example
Unable to manufacture enzyme phenylalanine hydroxylase

Allele for function enzyme = P

Allele that fails to produce functional enzyme = p
Punnet square show possible combinations of alleles
between 2 parents
Genotype different combinations of genes
Phenotype expression of genetic makeup
PP homozygous dominant normal phenotype
Pp heterozygous normal phenotype

1 dominant allele codes for enough enzyme

Can pass recessive allele on to offspring carrier

pp - homozygous recessive PKU

2 recessive alleles make no functional enzyme

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Inheritance

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Inheritance

Alleles that code for normal traits are not always

dominant

Huntington disease caused by dominant allele

Both homozygous dominant and heterozygous individuals get

HD

Nondisjunction

Error in cell division resulting in abnormal number of

chromosomes
Aneuploid chromosomes added or missing

Monosomic cell missing 1 chromosome (2n-1)

Trisomic cell has additional chromosome (2n +1)

Down Syndrome trisomy 21 3 21st chromosomes

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Variations of Dominantrecessive inheritance

Simple dominance-recessive

Just described where dominant allele covers effect of

recessive allele

Incomplete dominance

Neither allele dominant over other

Heterozygote has intermediate phenotype
Sickle-cell disease

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Sickle-cell disease

Sickle-cell disease

HbAHbA normal
hemoglobin
HbSHbS sickle-cell
disease
HbAHbS normal and
abnormal hemoglobin

Minor problems, are

carriers for disease

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Multiple-allele inheritance

Some genes have more

than 2 alleles
ABO blood group

IA produces A antigen
IB produces B antigen
i produces neither
A and B are codominant

Both genes expressed

equally in heterozygote

Genotype

Phenotype
(blood type)

IA IA or IA i

IB IB or IB i

IA IB

AB

Ii

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Blood type inheritance

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Complex inheritance

Polygenic inheritance most inherited traits not

controlled by one gene
Complex inheritance combined effects of many
genes and environmental factors

Skin color, hair color, height, metabolism rate, body build

Even if a person inherits several genes for tallness, full
height can only be reached with adequate nutrition
Neural tube deficits are more common if the mother lacks
adequate folic acid in the diet environmental effect

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Skin color is a complex trait

Depends on
environmental conditions
like sun exposure and
nutrition and several
genes
Additive effects of 3
genes plus
environmental affect
produces actual skin
color

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Autosomes, sex chromosomes and

sex determination

Karyotype shows 46
chromosomes arranged in
pairs by size and centromere
position
22 pairs are autosomes
same appearance in males and
females
23rd pair are sex chromosomes

XX = female
XY = male

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Sex determination

Males produce sperm

carrying an X or Y

Females only produce eggs

carrying an X
Individuals sex determined
by fathers sperm carrying X
or Y

Male and female embryos

develop identically until
about 7 weeks

Y initiates male pattern of

development

SRY on Y chromosome

Absence of Y determines
female pattern of
development
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Sex-linked inheritance

Genes for these traits on

the X but not the Y
Red-green
colorblindness

Most common type of

color blindness
Red and green are seen
as same color
Males have only one X

They express whatever

they inherit from their
mother

Genotype

Phenotype

XCXC

Normal female

XCXc

Normal female
(carrier)

XcXc

Color blind
female

XCY

Normal male

XcY

Color blind
male

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Inheritance of red-green color

blindness

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End of Chapter 29
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