DEVELOPMENT/GENETICS

Lecture Notes:

I. Fertilization
    A. Timing

Sperm lasts 1-2 days in female so secondary oocyte must be fertilized with a day (within uterine tube) in order for developing embyro to mature enough to implant in uterus.    B. Blocks to polyspermy 1. Sperm must penetrate cells and layers that come with the secondary oocyte in order to allow fusion of chromosomes

2. More than one sperm penetrating oocyte ( or polyspermy) causes death because of abnormal chromosome number

3. mechanisms

a. Oocyte changes membrane characteristics
no more sperm can penetrate easily

b. Cortical response
materials in the cell cytoplasm force attaching sperms off oocyte

C. Completion of meiosis/fertilization 1. Once sperm penetrates secondary oocyte, the cell completes second meiotic division to form zygote and polar body (which is lost)

2. New cell, the zygote, has 46 chromsomes , 23 from mom and 23 from dad

Describe the funcitn of each gender's sex cell. Identify the number of chromosomes in each..

II. Embryonic processes and events
A. processes begin and then continue throughout development

1. Cleavage
process like mitosis but without a chance for cell growth, producing more but increasingly smaller cells that cling together

2. Migration
process in which cells move from one spot to another changing within the embryo, adding new embryonic structures

3. Differentiation
process in which some cells change to form new cell types, allowing new cell types to form.

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B. Embryonic events happen only once

1.Fertilization-fusion of secondary oocyte and sperm

2. Implantation-embedding of blastocyst stage in endometrium

Distinguish processes from events.

III. Embryonic Developmental stages


A. Zygote stage (day 1, result of fertilization event)

Single cell has chromsomes from dad but chromosomes and all other cellular structures from mom (i.e., mitochondria, etc.)

B. Morula stage (days 3-4, result of cleavage)
Solid ball of cells, of greater than 12 cells, where cells (blastomeres) are all biochemically the same
and have the capability to become any tissue in adult body (same as embryonic stem cells)

C. Early Blastocyst stage (days 5-8, result of further cleavage, as well as migration and differentiation)
Hollow ball of cells, consists of two different types of cells.

a. Trophoblast cells are outer cells that:
....become embryonic part of placenta
(chorion) that produces human chorionic gonadotropin ( which tells Mom's corpus luteum to produce progesterone to maintain endometrium).
....produce enzymes to promote implantation

b. Inner cell mass cells eventually become the embryo. This mass becomes two layered disk (bilaminar disk).

D. Late Blastocyst stage (days 14-21, all processes continuous, after implantation event)
three layered, flat (trilaminar disk) embryo implanted in endometrium

1. Three types of stem cells (forming basis of all adult cells) are formed.a. Ectoderm
eventually forms skin and nervous system

b. Endoderm
eventually forms epithelial linings (mucosal layers) of digestive, urogenital and respiratory systems

c. Mesoderm
eventually forms bone, muscle, blood and vessels, organs of reproductive and urinary systems

2. Embryonic membranes begin to form a. Amnionic membrane/sac (or bag of water)
sac that contains fluid surrounding embryo penetrated by umbilicus from embryo to placenta
amniocentesis is used to determine biochemical and genetic disorders.

b. Chorion
derived from trophoblasts to form part of placenta (to provide nourishment to embyro)
encloses all membranes and embryo

E. Neurula stage (end of third week)
ectoderm of embryonic plate infolds to form central nervous system, hence name.
trilaminar disk begins to fold into cylinder.

F. One month stage
trilaminar disk has folded into cylindrical, tadpole-like embryo.
Heart and gut begin and continue to form.
Limb buds appear.


G. Two month stage (5-8 weeks)
Limb buds recognizable as appendages with digits at week 8
Sexual genitalia begin to form at week 8.

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Fetal stages
A. Third Month stage (9-12 weeks)
Sex can be determined. Head with eyes and ears obvious. Urine excreted into amnion. Bones begin to be ossified.
Placenta is now forming adequate estrogen and progesteron to maintain endometrium. HCG levels drop.

B. 4th through 8th months (12-36 weeks)
continued formation of organs and structures.
movements become detectable
surfactant forms at end of this period.

C. Full term (38 weeks)
Baby is head down and read for birth.

Distinguish developmenta stages. Identify key structures formed during each stage.


V. Hormones of pregnancy, birth and lactation.

1. Estrogen
Increasing levels of estrogen promote readiness of breasts, maintains endometrium and causes mother's body to store fat and water in preparation for childbirth.

2. Progesterone
Increasing levels of progesterone inhibit myometial contractions.

3. HCG
During first three months, hCG is produced by chorion (part of placenta) of embryo. Targets Corpus luteum which then maintains progesterone production to maintain endometrium.

4. Relaxin
Produced by ovaries and then the placenta-reduces myometrial contraction during pregnancy. Also relaxes ovarian ligaments and pubic symphyses prior to labor to ease birthing.

5. Prolactin
Produced by Anterior pituitary in response to baby suckling. Targets mammary glands to promote milk production. More suckling then more milk produced---positive feedback loop.

6. Oxytocin
Produced by Hypothalamus neurosecretory cells (released from Posterior pituitary axonal end of those neurons) in response to stretching of uterine cervix (baby moving).. Targets myometrium to increase contractions during birth. More moving then more birth contractions---positive feedback loop.

Produced by Hypothalamus neurosecretory cells (released from Posterior pituitary axonal end of those neurons) in response to suckling. Also targets myoepithelial cells surrounding mammary glands and ducts to eject milk. More suckling then more milk ejected---positive feedback loop.

Describe role of hormones of pregnancy, birth, milk ejection and milk production.

VI. Genetics

A. Basic information
1. Inherited information on which proteins to make and how to make them (protein synthesis) is found in sequences of nucleotides called genes. Many genes make up a single DNA molecule. DNA is not condensed most of the time (interphase) so is available to code for proteins. During division processess (mitosis and meiosis) DNA is condensed into chromosomes to aid in movment to newly produced cells.

2. Each gene codes for a proteinthat determines a specific body trait. For example, there are genes for membrane proteins, genes for metabolic enzymes, etc. The expression of these genens affect a cell's appearance and activity (a trait)

a. autosomal traits (on all DNA molecules) are those that affect general body
b. sex traits (only on the so-called sex chromosomes, i.e., X and Y) affect expression of gender.

3. There are 23 pairs of DNA molecules ( or chromosomes) in normal body cells-one set from mom and one set from dad. As such , there are two complete sets of genes that produce the same protein type and therefore determine the same traits efficiency of metabolic enzymes, type of chloride membrane transporter protein). These pairs of chromosomes are called homologous pairs because gene for same protein is found at same location on both chromosomes of the pair.

4. Because there are homologous chromosomes each cell has two versions of a gene. Each version is called an allelle.

a. Both alleles can produce exactly the same protein (known as homozygous condition)
b. Alleles can produce slightly different proteins (known as heterozygous condition)
   

5. Alleles may produce proteins with different effectiveness or durability (dominance)

a. Most active version of protein (trait) is expressed over a less active protein's affect
( known as a dominant allele)
b. Least active version (trait) is masked (known as recessive allele)

6. Allele naming

Lets assign gene a letter symbol (e.g, C). Designate upper case letter (C) for a dominant allele and lower case letter for recessive allele (c).

So a homozygous pair of alleles would be designated CC or cc while a heterozygous pair would be Cc. Adding dominance/recessive attribute would complete a description of the allele pair.

a. Genotype = description of actual alleles in gene pair
ex. CC = homozygous dominant , cc = homoxygous recessive, Cc = heterozygous

b. Phenotype = description of trait considering expression
must know which allele is dominant or recessive for each trait to determine ( ex. CC= curly, cc= straight, Cc= curly)

Be able to define genetic terms.

B Patterns of inheritance

1. Dominance patterns
a. Simple dominance -trait is either expressed or not (offspring either have the trait or not). Allele can be expressed as either dominant or recessive (e.g., Cystic Fibrosis is autosomal recessive, Parkinson's is autosomal dominant)

b. Incomplete dominance-expression can also result in an intermediate trait.(offspring could either have the trait or not but could also have a not so serious expression) e.g., sickle cell anemia

c. Codominance -both alleles are expressed so there are two traits. (offspring could either have both traits) e.g., ABO blood typing.

2. .Sex linked inheritance-gene for autosomal trait is physically located on (linked to) "sex" chromosome. eg. hemophilia.

Describe the inheritance patterns, giving examples

C. Punnett Squares ( for further further discussion click here, for practice click here)
click on this image for an audio message for suggestions on studying genetics

This is a mechanism to predict possible outcomes of each crossing of male and female gametes.

1. Simple dominance (Autosomal dominant or Autosomal recessive) patterns

a) Cross of heterozygous parents
(Bb) to predict offspring's traits. This hypothetical trait is autosomal recessive.
 
 
Mother's 
oocytes
 
 
B
b
Dad's
B
BB
Bb
sperms
b
Bb
bb
 
What are offspring genotypes? 25% are homozygous dominant (BB), 50% are heterozygous (Bb) and 25% are homozygous recessive (bb).
phenotypes? BB and Bb are not afflicted. In autosomal recessive disorders only bb genotypes are afflicted. One allele comes from each parent.

b) Cross of heterozygous parents (Bb) to predict offspring's traits. This hypothetical trait is autosomal dominant
 
 
Mother's 
oocytes
 
 
Z
z
Dad's
Z
ZZ
Zz
sperms
z
Zz
zz
What are offspring genotypes? 25% are homozygous dominant (ZZ), 50% are heterozygous (Zz) and 25% are homozygous recessive (zz).
phenotypes? BB and Bb are afflicted. In autosomal dominant disorders all genotypes with dominant trait are afflicted.


c). Test cross to determine parenthood with heterozyous mom.
 
 
Mother's 
oocytes
 
 
B
b
Dad's
B
BB
Bb
sperms
?
Bb
bb
 
What is dad's genotype- BB or Bb?

2. Test to determine whom determine offspring's gender.

 
 
Mother's 
oocytes
 
 
X
X
Dad's
X
XX
XX
sperms
Y
XY
XY
 
What are frequencies of offspring's genders? 50% males, 50% female
Who determines the offspring's gender? The male
.

3. X-linked inheritance of a recessive trait
trait is on leg of X chromosome only so missing on Y chromosomes.
example: color blindness, balding, hemophilia
convention is lowercase on X shows trait (Xc) are recessive, uppercase on X (XC) is dominant
In terms of phenotypes, male with trait is affected
; female with one trait is a carrier but not affected ;female with two traits is affected.

 
 
Mother's 
oocytes
 
 
Xc
XC
Dad's
XC
XCXc
XCXC
sperms
Y
XcY
XCY
 

What are offspring genotypes (and phenotypes in parentheses)? boys:XcY (affected), XCY (not affected)
girls: XCXC (not affected), XCXc (not affected), XcXc (affected)
%50 of boys, 0% of girls affected
 

Another mating.

 
 
Mother's 
oocytes
 
 
Xc
XC
Dad's
Xc
XcXc
XcXC
sperms
Y
XcY
XCY
 
What are offspring genotypes (and phenotypes in parentheses)? boys:XcY (affected), XCY (not affected)
girls: XCXc (not affected), XcXc (affected)
50% of boys, 50% of girls affected

2. Incomplete dominance

Sickle cell anemia

 
 
Mother's 
oocytes
 
 
S
s
Dad's
S
SS
Ss
sperms
s
Ss
ss
Only SS have normal phenotypes, Ss is moderately afflicted and ss is more severely afflicted Like other recessive traits, both parents must give offspring a recessive allele for child to have disorder.


3. Codominance

ABO blood typing
previously only one pair of alleles was considered
ABO typing involves three alleles in population but only two can be in one individual

A and B are red blood cell markers, O is lack of markers
A and B are codominant, O is recessive

 
  genotype (Alleles)                phenotype (blood type)

AA, AO                                         A
 
BB,BO                                         B

AB                                                 AB

OO                                                 O

Click here to work some punnett squares problems-useful for quizzes and final exam.

Be able to perform punnett square method on one gene (monohybrid).


Professor Thomas M. Lancraft

Human Anatomy and Physiology Courses 
at St. Petersburg College
St. Petersburg/Gibbs Campus

5/2008