Chromosomes as the

basis for inheritance

Lecture 2
BIOL 261 - Molecular and general genetics
Instructor: Prof. Laurent Potvin-Trottier
Fall 2020
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What we learned last class
• Gene as the unit of inheritance

• Diploid have two copies of each gene

• Versions of the genes are called alleles

• Can be dominant (A) over the recessive (a) for the

phenotype

• Alleles are segregated equally at division (Mendel’s first

law)
What we learned last class

• Ratios of offsprings indicative of single gene inheritance

• Genotype: 1:2:1, 1:1

• Phenotype: 3:1, 1:1

• P(A and B) = P(A)P(B) if A and B are independent

• P(A or B) = P(A)+P(B) if A and B are mutually exclusive

 Genes are physically
located on chromosomes
• Chromosomes are DNA molecules that contain part or all of the genome

• Different species have different number of chromosomes

• E. coli has 1 circular chromosome (haploid)

• Humans have 23 pairs of chromosomes (diploid)

• Mouse have 20 pairs of chromosomes

• Genes are linearly ordered on chromosomes

 Before replication After replication
Homologous chromosomes

Chromosome
arms

Centromere

Dyad
Chromosome
Chromatid
 Chromosomes can be classified by
the position of their centromeres

Centromeres are specialized regions of DNA used for segregation of chromosomes

How do we know what we know?

Today it is well established that the chromosomes carry

genes.

Experimentally this was established by observing patterns

of inheritance of traits that was in concordance with
the pattern of inheritance of chromosomes.

Sex determination agreed with chromosomal inheritance of

the X and Y chromosomes. And unusual pattern of
inheritance of genes on the X chromosome confirmed
that genes were on the chromosomes.
 The karyotype is the complete set of chromosomes of an organism.

This human karyotype has been stained with Giemsa to reveal

characteristic banding patterns that help identify individual
chromosomes.

National Human Genome Research Institute -

www.genome.gov/glossary/resources/karyotype
Mitosis and meiosis are the
two types of cell division

• Mitosis is responsible for the conservation of genetic material in

each cell.

• The reproductive cells are produced by meiosis

• Chromosome segregation during meiosis account for Mendel’s

Laws.

• the segregation of alleles of one gene.

• the independent assortment of genes on different chromosomes.

Mitosis - one replication of chromosomes is followed by one cell division.
The number of chromosomes, and their composition is conserved

Meiosis - one replication of chromosomes is followed by two cell divisions.

The resulting cells have one half the number of chromosomes, but comprise one
complete set.
Mitosis - cell division

Especially remember the terms Metaphase, Anaphase

Meiosis - cell division giving rise to oocytes, sperm, pollen

Especially remember Metaphase I, II, Anaphase I, II

Q: If a diploid cell has 10 picograms of
DNA at the end of S phase, how much
would a cell have after anaphase of
meiosis I?

A. 2.5 picograms

B. 5 picograms

C. 10 picograms

D. 20 picograms

E. I have no idea
Q: If a diploid cell has 10 picograms of
DNA at the end of S phase, how much
would a cell have after anaphase of
meiosis I?

A. 2.5 picograms

B. 5 picograms

C. 10 picograms

D. 20 picograms

E. I have no idea
A chromosome is
composed of
one continuous
piece of double
stranded DNA.

Different alleles
of one gene
differ by small
differences
in their DNA
sequence.
The genetic content of a cell is conserved during mitosis.
Each cell has two copies of the genome.
Meiosis produces reproductive cells each with one complete
copy of the genome. Segregation of the chromosomes
explains the segregation of alleles and genes.
What is the significance of meiosis?

Why is it important?
The pairing of homologous chromosome pairs is seen
at meiosis 1. The configuration is called a bivalent.

Crossing-over - or
breakage and
reunification of
chromosome arms
between homologous
chromosomes occurs
at meiosis 1.

Crossing over is the

basis of genetic
mapping that will be
discussed in a few
weeks.
Cell division animations.
Which organism is the most
important to understand?
A. Escherichia coli

B. Baker’s yeast (Saccharomyces cerevisiae)

C. Common fruit fly (Drosophila melanogaster)

D. Human (Homo sapiens)

E. They are all equally important

Model organisms enable us to learn about
universal biological properties shared by
living organisms
• “Anything found to be true of E. coli must also be true of elephants”
Jacques Monod

• They have properties such as:

• Easy and safe to work with

• Short life cycle, many offsprings

• Simple (e.g. small genome)

• Small size

• Community of scientists and large body of knowledge accumulated

Some Model Organisms
Drosophila need only 14 days per generation.
 Sex determination and
sex linkage, the inheritance of
genes on the sex chromosomes.
 Sex in animals is determined
by sex chromosomes
Human females have two X chromosomes
Males have one X and one Y
The X and Y chromosomes pair and segregate during meiosis and
gametes are produced with either one X or one Y chromosome.
Male XY
Female XX
X Y

Gametes: X XX XY

Male and female offspring are produced in equal frequency.

The human Y chromosome is necessary for male fertility.
The Y chromosome carries few genes.
The X chromosome carries many genes.
Autosomal are “normal” (non-sex)
chromsomes
Traits controlled by genes on the X chromosome do not
show Mendel’s classical ratios of inheritance because
the male doesn’t carry two copies of the genes on the X
chromosome.

The mutation for white eye in Drosophila is on the X chromosome.

Gene Symbol systems :

1. In class and for generic designations of genes

A – dominant allele a – recessive allele

2. Drosophila - The symbols are strongly based on familiarity

with the normal or wild type phenotype. The deviations from
wild type are mutants and the mutant phenotype influences the
name of the gene.

- the mutant type gives the letter, lower case for

a recessive mutation and Capital letter for a dominant mutation,
a plus superscript (+) for the wild type

w – white, recessive allele w+ - wild type (red) dominant allele

B – Black, dominant allele B+ - wild type (brown body)
recessive allele
X-w X-w = female, white eyes; homozygous
X-w Y = male, white eyes; hemizygous

X-w+ Xw+ = female, red eyes; homozygous

X-w+ Xw = female, red eyes; heterozygous
X-w+ Y = male, red eyes; hemizygous

Cross a homozygous white eyed female with a

red eyed male - what is the outcome? What color
eyes will the female and male offspring have, and
in what ratios?

X-w X-w x X-w+ Y ?

Females all red eyed, males all white eyed
Genes that are on the sex chromosomes do not show
classical Mendelian segregation.
 A B
White eye
in Drosophila
A
F1 all red eyed
F2
Females red eyed
Males ½ white eyed
Males ½ red males

B
F1 females red eyed
males white eyed
F2
¼ red males
¼ white males
¼ red females
¼ white females
A B
Key indicators of sex linked
traits
• The frequencies of phenotypes among male and female
offspring are different

• The outcome is different if the male parent carries the

mutant phenotype or if the female parent carries the
mutant phenotype.

• Traits tend to pass from mother to son or father to

daughter.

• Traits that have a higher frequency of expression in one

sex.
Q: Cross a homozygous white eyed female
with a red eyed male.What eye colour will
the female and male offspring have, and in
what ratios?
A. the cross is Xw Xw x Xw+ Y , all females white eyes, all males
red eyes

B. the cross is Xw Xw x Xw+ Y , all females red eyes, all males

white eyes

C. the cross is Xw+ Xw+ x Xw Y , all females white eyes, all males red
eyes

D. the cross is Xw+ Xw+ x Xw Y , all females red eyes, all males
white eyes
Q: Cross a homozygous white eyed female
with a red eyed male.What eye colour will
the female and male offspring have, and in
what ratios?
A. the cross is Xw Xw x Xw+ Y , all females white eyes, all males
red eyes

B. the cross is Xw Xw x Xw+ Y , all females red eyes, all males

white eyes

C. the cross is Xw+ Xw+ x Xw Y , all females white eyes, all males red
eyes

D. the cross is Xw+ Xw+ x Xw Y , all females red eyes, all males
white eyes
Pedigree symbols
Discovering inheritance pattern
by inspecting pedigrees
• Polydactyly

• All children
have affected
parents

• All unaffected
couples have
unaffected
children

• => Autosomal
dominant
• Ability to taste
phenylthiocarbamide

• Unaffected parents
have affected
children

• Affected couple
have all affected
children

• No apparent
difference between
male and female

• Autosomal recessive
Inheritance of haemophilia in European royal families.
In females, one X chromosome is inactivated in each
cell. The particular X chromosome that is inactivated
varies in different areas of the body. This causes
sectors with different phenotype.
X inactivation in different patches of skin causes orange
and black sectors in calico cats. Calico cats are female.
In birds the females have heteromorphic sex
chromosomes Z and W.

Males have the homomorphic sex chromosomes

called Z Z.
Recessive s allele causes small wings in Drosophila.
It is X linked. A small winged male is crossed to a homozygous
wild type female. Describe the F1 and F2.

F1 Xs Y
Female Male
X
Xs+ Xs+ Xs Y
Xs+ XsXs+ Xs+ Y
Males and female offspring wild type,
normal wings

Xs+ Y Female all wild type

F2
XsXs+ XsY ½ Males small winged
Xs
½ Males wild type
Xs+Xs+ Xs+Y
Xs+
Q. A person with red-green color blindness cannot distinguish
shades of red and green and usually see these colors as blue-green.
Red-green color blindness is caused by an X linked recessive allele.
A child would be most at risk for red green color blindness if:

A. They were female and their mother’s brother had red–green

color blindness

B. They were female and their father’s brother had red–green

color blindness

C. They were male and their mother’s brother had red–green

color blindness

D. They were male and their father’s brother had red–green color
blindness
C Sons are at risk of having a disorder controlled
by X –linked genes that are inherited through the
maternal lineage

Daughters can also have disorders that are controlled by recessive

alleles of X-linked genes, but it is much more rare, since they
would need to inherit a rare allele from both her mother
and her father.