CYTOGENETICS 311 MIDTERMS
Lesson 5: Model Organisms
A model organism is a non-human species that
is extensively studied to understand basic
biological phenomena, with the expectation
that discoveries made in the model organism
can be extrapolated to other species, including
humans.
Typical Characteristics of Model Organisms
Small adult size
Rapid development with short life cycles
Can be breed in large numbers
Readily available and inexpensive
maintenance
Similar genes or similar-sized genomes to
humans
Tractability to experimental methodology
Bacteria
Yeast
Arabidopsis thaliana
Caenorhabditis elegans
Drosophila melanogaster
Danio rerio
Chick Embryo
Mouse
Bacteria Under Microscope
Bacteria as a Model Organism
The foundations of molecular biology were
based on studies of bacteria.
Antibiotics.
Recombinant DNA technologies.
Yeast as a Model Organisms
Eukaryotic system.
Signaling molecules and cell cycle are nearly
similar.
Good model system to understand many
human diseases including cancer
Ease of genetic manipulation allows its use for
analyzing and functionally dissecting gene
products from other eukaryotes.
Last decade four Nobel prizes were awarded
for discoveries involving yeast.
Advantages
Excellent genetics
Genes can be easily cloned
Powerful molecular techniques
Possess all basic eukaryotic cell organelles
Cell cycle control similar to animals.
Genome sequenced
Excellent genetics
RNAi effective
Fast generation time
Second site suppressor/enhancer screens
Powerful molecular techniques
Genes can be easily cloned
Transgenic animals easily generated
Targeted misexpression of genes in space and
time
Mosaic analysis: determine where gene acts
Laser ablation of single cells possible
Limitations
Unicellular
No distinct tissues
DELA CRUZ, KJ 1
 CYTOGENETICS 311 MIDTERMS

Embryological manipulations difficult Easy-to-manipulate genetic system and can be

Targeted gene disruption still difficult used to study development, physiology and
although possible. behavior.
Caenorhabditis elegans Biological complexity comparable to that of a
One of the best characterized multicellular mammal
animals at the level of genomics, genetics, Many organ systems in mammals have well-
embryology conserved homologues in Drosophila
Its genome is fully sequenced Has provided new insights into forms of
C. elegans is unique in that it can be grown cancer, neurodegenerative diseases, behavior,
and genetically manipulated with the speed immunity, aging, multigenic inheritance, and
and ease of a micro-organism while offering development.
the features of a real animal Life Cycle of Drosophila
C. elegans has a full set of organ systems, has
complex sensory systems, shows coordinated
behavior, and it is possible to trace the lineage
of every one of its approximately 1000
constituent cells
C. elegans Life Cycle and Research
Developmental and Cell Biology
Neurobiology
Aging
Human disease studies

Danio rerio
Small size, short life cycle, ease of culture,
and ability to readily produce mutations
relevant to human health and disease
The embryonic development can be seen
through its transparent egg and closely
resembles that of higher vertebrates
Advantages Other shared features with humans include
Excellent genetics blood, kidney, and optical systems
Hermaphrodites/self-fertilization In addition, its genome is half the size of the
Fast generation times mouse and human genomes, which is valuable
Powerful molecular techniques (Cloning in identification of key vertebrate genes.
RNAi) Development in ex vivo.
Genome sequence complete Entire initial development is transparent.
Few cells: 959 cells and lineages known 48hrs is enough for the development of most
Morphology fully characterized of the organ systems.
Limitations Advantages
Limited external morphology Simplest vertebrate clone
Less similar to human Good genetics
Some embryological manipulations difficult Transparent embryos trivial
Fruit Fly (Drosophila) Embryo manipulations possible
A versatile model organism that has been used Organ systems similar to other vertebrates
extensively for biomedical research. (e.g., eyes, heart, blood, gastrointestinal tract)
Limitations
Not yet trivial to clone genes

DELA CRUZ, KJ 2
 CYTOGENETICS 311 MIDTERMS
Transgenics not trivial
No targeted gene disruption
Chick Embryo
The chick embryo provides and excellent
model system for studying the development of
higher vertebrates wherein growth
accompanies morphogenesis.
Chick Embryo Development
Advantages
Availability, low cost
Accessibility, outside of mother
Great for embryological manipulation;
transplants of tissue
Easily transfected by avian retroviruses
Limitation
Limited genetics
Genome sequenced
Mus musculus (Mouse)
Closest mammalian model organism to
humans
Genes that code for proteins responsible for
carrying out vital biological processes in both
the human and the mouse share a high degree
of similarity.
Therefore, the mouse has already proven
extremely useful in development, genetic, and
immunology studies
Transgenics and KO’ s possible
A great system for studying and understanding
human disease, as well as a mechanism for
investigating new treatment strategies in ways
that cannot be done in humans
Advantages
Mammals, brains similar to human, all
homologous areas/cell types
“Reverse” genetics: targeted KOs
Developmental overview same as for all
mammals
Large mutant collection
Construction of chimeric embryos possible
Availability of material at all stages
Source of primary cells for culture
Limitations
Classic genetics difficult
Early-acting mutant phenotypes difficult to
study
Embryonic manipulations difficult
Development and life cycle relatively slow
Arabidopsis thaliana (Thale cress)
Small flowering plant
Has a small genome relative to other plants
and is easily grown under laboratory
conditions.
Amenable to some genetics particularly
generation of transgenics
Allows insight into numerous features of plant
biology, including those of significant value to
agriculture, energy, environment, and human
health.
DELA CRUZ, KJ 3
 CYTOGENETICS 311 MIDTERMS
Lesson 6: Mendelian Genetics (PART 1)
Gregor Johann Mendel
1866
major postulates of transmission genetics
garden pea (Pisum sativum)
discrete units of inheritance exist and
predicted their behavior during the formation
of gametes (elementen)
Mendel’s postulates were accepted as the basis
for the study of what is known as transmission
genetics
Garden Pea
easy to grow and hybridize artificially
self-fertilizing in nature
seven visible features (unit characters), each
represented by two contrasting forms, or traits
Character: stem height: traits: tall and dwarf
He selected six other visibly contrasting pairs
of traits involving seed shape and color, pod
shape and color, and pod and flower
arrangement.
Mendel’s simplest crosses involved only one
pair of contrasting traits. (Monohybrid cross),
from two parent strains, each exhibiting one of
the two contrasting forms of the character
under study.
Initially, we examine the first generation of
offspring of such a cross, and then we consider
the results of selfing, the offspring of self-
fertilizing individuals from this first
generation.
The original parents constitute the P1 or
parental, generation, their offspring are the F1
or first filial generation, and the individuals
resulting from the selfed F1 generation are the
F2 or second filial generation.
When Mendel crossed tall plants with dwarf
plants, the resulting F1 generation consisted
only of tall plants. (gibberellin).
When members of the F1 generation were
selfed, Mendel observed that 787 of 1064 F2
plants were tall, while the remaining 277 were
dwarf. Note that in this cross the dwarf trait
disappears in the F1 only to reappear in the F2
generation.
To explain these results, Mendel proposed the
existence of particular unit factors for each
trait.
He suggested that these factors serve as the
basic units of heredity and are passed
unchanged from generation to generation,
determining the various traits expressed by
each individual plant.
“round” and “wrinkled” peas arise from the R
gene.
Mendel’s First Three Postulates
Unit Factors in Pairs
Genetic characters are controlled by unit
factors that exist in pairs in individual
organisms.
Because the factors occur in pairs, three
combinations are possible: two factors for tall,
two factors for dwarf, or one factor for each
trait.
Dominance/Recessiveness
When two unlike unit factors responsible for a
single character are present in a single
individual, one unit factor is dominant to the
other, which is said to be recessive.
the trait expressed in the F1 generation is
controlled by the dominant unit factor
the trait not expressed is controlled by the
recessive unit factor
pertains only when unlike unit factors are
present in pairs.
Segregation
During the formation of gametes, the paired
unit factors separate or segregate randomly so
that each gamete receives one or the other
with equal likelihood.
Modern Genetic Terminology
The physical appearance of a trait is the
phenotype of the individual.
Mendel’s unit factors represent units of
inheritance called genes by modern
geneticists.
DELA CRUZ, KJ 4
 CYTOGENETICS 311 MIDTERMS

the phenotype is determined by alternative Terminologies

forms of a single gene called alleles. Genotype
When alleles are written in pairs to represent the genetic constitution of an individual (PP,
the two-unit factors (DD, Dd, or dd), these Pp, pp)
symbols are called the genotype. Phenotype
When both alleles are the same (DD or dd), the outward appearance of an individual
the individual is homozygous or a (purple, white)
homozygote; when the alleles are different Dominant Phenotype
(Dd), we use the term heterozygous or a the phenotype seen when two alternative
heterozygote. alleles are present together (Pp: purple)
Dominant Allele
the form of the gene that is expressed when
two alternative alleles are present together
(P>p)
Recessive Allele
the form of the gene that is not expressed
when two alternative alleles are present
together.
Recessive Phenotype
the phenotype that is only seen when two
identical alleles are found together (pp: white)
Homozygous
having two identical alleles (PP or pp)
Heterozygous
having two different alleles (Pp).
Punnett Squares

Punnett square, named after Reginald C.

Punnett.
the vertical column represents those of the
female parent, and the horizontal row
represents those of the male parent.
This process thus lists all possible random
fertilization events.
The genotypes and phenotypes of all potential
offspring are ascertained.

DELA CRUZ, KJ 5
 CYTOGENETICS 311 MIDTERMS

crossed to a known homozygous recessive

individual.

Lesson 7: Mendelian Genetics (PART 2)

Mendel’s Dihybrid Cross Generated a Unique F2
Ratio
Such a cross, involving two pairs of
contrasting traits, is a dihybrid cross, or
twofactor cross.
The F1 offspring will all be yellow and round.
It is therefore apparent that yellow is dominant
to green and that round is dominant to
wrinkled.

The Testcross: One Character

To distinguish the genotype, Mendel devised

the testcross method.
The organism expressing the dominant
phenotype, but of unknown genotype, is
DELA CRUZ, KJ 6
 CYTOGENETICS 311 MIDTERMS

Independent Assortment three pairs of contrasting traits, in what is

called a trihybrid cross, or three-factor cross.
When F1 individuals serve as parents, each
produces eight different gametes in equal
frequencies.
At this point, we could construct a Punnett
square with 64 separate boxes and read out the
phenotypes.

Pedigrees Reveal Patterns of Inheritance of

Human Traits
The traditional way to study inheritance has
been to construct a family tree, indicating the
presence or absence of the trait in question for
each member of each generation.
Such a family tree is called a pedigree. By
analyzing a pedigree, we may be able to
predict how the trait under study is inherited—
for example, is it due to a dominant or
recessive allele?
On the basis of similar results in numerous When many pedigrees for the same trait are
dihybrid crosses, Mendel proposed a fourth studied, we can often ascertain the mode of
postulate called independent assortment inheritance.
During gamete formation, segregating pairs of Forked-Line Method or Branch Diagram.
unit factors assort independently of each other.
This postulate stipulates that segregation of
any pair of unit factors occurs independently
of all others. As a result of random
segregation, each gamete receives one
member of every pair of unit factors.
Thus, according to the postulate of
independent assortment, all possible
combinations of gametes are formed in equal
frequency.
The testcross can also be applied to
individuals that express two dominant traits
but whose genotypes are unknown.
The Trihybrid Cross demonstrates that
Mendel’s Principles Apply to Inheritance of
Multiple Traits

DELA CRUZ, KJ 7
 CYTOGENETICS 311 MIDTERMS
Queen Victoria was the World’s most famous
carrier of hemophilia. Her son, Leopold, and
two carrier daughters, Alice and Beatrice,
spread the gene fairly widely through the royal
families of Europe, Prussia, and Russia.
Fortunately, no modern monarchs have
inherited the allele. Indicate the probably
genotype of each of the people below.
Remember, hemophilia is a sex-linked trait
and shaded individuals have the disease.
Lesson 8: Pedigree Analysis
Pedigree Reveals Patterns of Inheritance of
Human Traits.
The traditional way to study inheritance has
been to construct a family tree, indicating the
presence or absence of the trait in question for
each member of each generation. Such a
family tree is called a pedigree. By analyzing a
pedigree, we may be able to predict how the
trait under study is inherited.
Pedigree Conventions
A pedigree chart displays a family tree and
shows the members of the family who are
affected by a genetic trait.
Consanguineous
The parents are related (first cousins)
They are connected by a double line
Sibs
short for siblings
connected by a horizontal sibship line
Monozygotic
for identical twins
diagonal lines are linked by a horizontal line
DELA CRUZ, KJ 8
 CYTOGENETICS 311 MIDTERMS

Dizygotic
for fraternal twins
same as monozygotic but lacks a connecting
line
Proband
individual whose phenotype first brought
attention to the family
indicated by an arrow connected to the
designation p
can be applied to either male or female
Pedigree Analysis
Autosomal Recessive Trait

Autosomal Dominant Trait

DELA CRUZ, KJ 9