Module 5: Heredity

Topic 1: Reproduction and Cell Replication

Reproduction is the making of a new offspring via sexual or asexual means. Sexual
reproduction occurs mainly in animals and is the process of fertilization of an egg by a sperm
to form an offspring. The fertilization can happen internally (such as in humans) or externally
(such as in fish). Asexual reproduction occurs predominantly in plants and bacteria and
requires only one individual for the making of an identical copy of itself.
The summary of these processes is as follows:

In mammals, specifically, a number of hormones are involved in pregnancy and the birth of
the offspring.
o Human chorionic gonadotropin (hCG) maintains the corpus luteum (so it can
produce progesterone) and stops ovulation. It also increases blood supply to the pelvic
area.
o Progesterone prepares the uterus and prevents lactation and uterine contractions
before birth.
o Oestrogen/Estrogen assists in organ development of the fetus, e.g., kidneys, liver,
and lungs. It also promotes the growth of breast tissue.
o Prolactin stimulates lactation (milk secretion).
o Oxytocin is a hormone released during childbirth, causing contractions of uterine
muscles. The pressure of the baby's head against the opening uterus causes more
oxytocin to be released and additional uterine contractions. This is positive feedback
loop that continues until the baby is born.
Cell Replication is the other important aspect for the survival and continuity of living
organisms. This is the process of cell division in order to make new cells, and occurs through
mitosis and meiosis.
Mitosis is the process of making new body (somatic) cells for the purpose of growth and
repair. In humans, a parent cell divides into two genetically identical diploid daughter cells
that each contain 46 chromosomes.
Meiosis produces sex cells (gametes) such as sperm and eggs for the purpose of sexual
reproduction. In humans, the parent cell divides into four genetically unique haploid daughter
cells, each containing 23 chromosomes. Each daughter cell is unique from the parent cell due
to the various processes that occur during meiosis. These processes include crossing-over,
random segregation, and independent assortment. These processes are vital in producing
genetic variability in offspring to ensure their continuity. The stages of mitosis and meiosis
are summarized in the diagram below:
Topic 2: DNA and Polypeptide Synthesis
In order to understand DNA and polypeptide synthesis, it is important for you to
understand the structure of DNA.
DNA (Deoxyribonucleic Acid) is a large molecule containing all the genetic
material necessary to pass characteristics onto the offspring. It contains
segments called genes that are like recipes for making polypeptides (that will
become proteins). These proteins are required for cellular functions inside the
organism. This DNA can be packed into larger structures called chromosomes
(the structures passed into daughter cells mentioned earlier).
DNA is found in both eukaryotic and prokaryotic cells; without DNA life would
not exist.
DNA is made up of three repeating subunits that combine to form a double helix
structure. These subunits are sugar (deoxyribose), a phosphate group, and
nitrogenous bases (adenine, which pairs with thymine, and guanine, which pairs
with cytosine). The sugar and phosphate linkage is what makes the "backbone"
of the double helix, whereas the pairing of the nitrogenous bases in the middle
of the ladder is what forms the "rungs" of the ladder, holding the double helix in
place.
This is shown below:

Polypeptide synthesis in eukaryotes and prokaryotes is the process by which a

gene is expressed to make polypeptide chains that are folded into a protein. The
process involves:

Transcription: DNA to mRNA

Transcription is the copying of a gene onto a portable single-stranded transcript
called mRNA. This takes place in the cell nucleus.
o The section of DNA containing the gene of interest unwinds to expose its
base sequence to the RNA polymerase.
o Free-floating mRNA nucleotides (NTPs) undergo base pairing with the
exposed DNA bases to make the mRNA transcript.
o In order to stabilize this mRNA and prevent its breakdown, a cap called 5'
prime is added to one end and a poly A tail is added to the other end
(Prokaryotes lack this step).
Translation: mRNA to Polypeptide
Translation occurs in the cytoplasm of the cell. It is the process where the
mRNA transcript is deciphered to produce a polypeptide chain. The process is
split into three stages:
o Initiation: This is where a ribosome attaches to the start of the mRNA
transcript. The ribosome molecule will read the mRNA three bases at a
time (codons) starting with the start codon.
o Elongation: The ribosome continues reading the mRNA codons recruits
transfer RNA (tRNA) with complementary anticodons that carry amino
acids. The ribosome joins the amino acids in a chain to create a
polypeptide.
o Termination: Once a stop codon is reached the growth of this
polypeptide chain stops and the chain detaches from the ribosome unit.
The polypeptide is still non-functional at this final step and needs be folded into
a 3D structure to start functioning as a protein.

Topic 3: Genetic Variation and Inheritance Pattern in a Population

DNA maintains genetic continuity but also introduces genetic variation. The
main processes that introduce variation include:
1. Gamete formation (meiosis)
2. Sexual reproduction
3. Mutation

1. Gamete formation (meiosis)

Gamete formation (meiosis) produces gametes that are genetically unique from
one another, resulting in variation in the offspring. This is caused by – crossing
over, random segregation, and independent assortment.
o Crossing over refers to the exchange of a section of genetic material
between maternal and paternal chromosomes to form new combinations
of characteristics in the offspring.
o Random segregation is the process of randomly distributing
chromosomes into different gametes.

o Independent assortment refers to the fact that genes that are not close to
each other on a chromosome are inherited independently. This means that
the inheritance of one trait does not depend on another (e.g., hair color
does not depend on height).
 2. Sexual Reproduction
The process of fertilization is random, and since each gamete is genetically
unique, the union of sperm and egg results in an even greater genetic variability
in the offspring.

3. Mutation
A permanent change to the DNA can occur during meiosis and create a new
characteristic, affecting the phenotype of the offspring.
Inheritance patterns depict how traits are passed on to the offspring through
genes. Mendelian genetics illustrates the inheritance of characteristics
controlled by a simple dominant/recessive relationship. In this case, there are
two variations of a gene called alleles, allele expression is dependent on
whether it is dependent on whether it is dominant or recessive, affecting the
phenotype of the offspring accordingly.
This topic depicts allele combinations and their respective genotype and
phenotype ratios using Punnett squares.
Other inheritance types occurring across a population can follow more complex
patterns, including:
1. Sex-linkage
2. Co-dominance
3. Incomplete dominance
4. Multiple alleles

o Sex linkage is when a gene controlling a characteristic/disease is located

on a sex chromosome (usually the X chromosome). It affects more males
than females, as males only have one X chromosome (unlike females,
who have two) and thus no backup X chromosome to mask the trait if
they inherit the faulty X chromosome. An example of this is color-
blindness.
o Co-dominance refers to both alleles of a gene being expressed
simultaneously. An example of this is human blood types. This is where
both A and B alleles can be expressed at the same time to produce an
offspring with the type of AB blood.
o Incomplete dominance is when both alleles mix together rather than
being fully expressed simultaneously. An example includes the crossing
of a red flower with a white flower to produce a pink flower.
o Multiple alleles refer to the possibility of having more than two alleles
across a whole population (not present in an individual, as we only carry
 two alleles for each gene). An example of this includes the leaf pattern of
white clover plants controlled by up to 7 alleles, giving rise to 22
different patterns on the leaf as a result.

We can also recognize inheritance patterns through the use of pedigrees, which
are family tree diagrams that show genetic relationships between individuals
across generations. Pedigrees represent traits that are autosomal or sex-linked.
This module teaches you how to construct pedigrees, so you will need to
familiarize yourself with the standard symbols used, as shown below.

There are four main types of inheritance patterns detected by pedigrees:

1. Autosomal recessive:
This is where the trait skips a generation (such as generation II below). Another
clue to look for is that the unaffected parents can have affected children.
 2. Autosomal dominant:
This is where the trait affects every generation. Besides that, affected parents
can have unaffected children.

3. Sex-linked recessive:
This type of trait affects more males than females, as shown below.
 4. Sex-linked dominant:
This trait involves an affected father passing the trait to all his daughters only.
This type of trait is very rare, however.

Technologies can be used to examine population inheritance patterns and

identify individuals through regions in their DNA that make each individual
unique. One type of mutation that makes us unique is called Single Nucleotide
Polymorphism (SNP).
During DNA replication, SNP involves a natural mutation of a single base in the
polypeptide sequence that ultimately affects the phenotype.
In this module, you will learn about the steps involved in various technologies
that use DNA to identify individuals and to reflect population inheritance
patterns.
An example of such technology includes DNA sequencing and profiling that
can be used in areas like crime scene investigations and paternity tests. For
example, the Golden State Killer was apprehended thanks to DNA sequencing
and profiling.