4.

1 – The Nature of Heredity

What is Heredity?
❖ A key feature of cell division and reproduction is the passing of chromosomes
from the parent cells to the daughter cells. Chromosomes carry information
for traits.
❖ Traits are passed from parents to offspring in a process known as heredity.

Genetic Material – Terminology

❖ Genetics is the study of heredity and the variation of characteristics.
❖ In a chromosome, genetic material is contained in a molecule of DNA
–deoxyribonucleic acid.
❖ Each DNA molecule is composed of hundreds of thousands of chemical subunits
that act as distinct sequences of information. These are nucleotides.
❖ Genes help to produce a particular trait of an organism.
❖ Each gene occupies a specific location, or locus (plural – loci) on a chromosome.

Chromosomes
❖ Chromosomes are found in the nucleus of all cells that serve to carry genetic
information.
❖ They vary widely between organisms of different species in their
Number, shape, and size.
❖ In most multicellular organisms, chromosomes occur in sets.
❖ Diploid cells have two sets of chromosomes.
❖ Haploid cells have half the normal number of chromosomes.
❖ Some cells contain three or more sets of chromosomes and are referred to as
polyploids (many plants)

Reproduction
❖ Organisms inherit genetic information from their parents.
❖ Asexual reproduction – produces offspring from a single parent. The genetic
makeup of the offspring is identical to the parent.
❖ Sexual reproduction – produces offspring from the fusion of the two sex cells.
The genetic makeup of the offspring is different from that of either parent.
4.2 – Asexual Reproduction: Copies

Cell Division
Cell division occurs for:
 - Growth
- Repair/replacement
- reproduction

The Cell Cycle:

Mitosis – eukaryotic cell division of genetic material that results in two identical
daughter cells (same chromosomes) being produced from one parent cell
Cytokinesis – equal division of the cytoplasm and organelles (occurs immediately
after mitosis)

Interphase
▪ To prepare for mitosis, the cell duplicates- its chromosomes. During division,
each cell gets one copy of each chromosome.
▪ Chromatin: the tangled strands of DNA and protein within a nucleus
▪ Sister chromatid: the identical copy of a single chromosome that remains
attached to the original chromosome at the centromere

Phases of Mitosis
Phase 1 – Prophase
▪ Chromosomes begin to shorten and thicken.
▪ In animal cells, centrioles in the cytoplasm separate and move to opposite
poles. Spindle fibers are formed and organized. The centromere helps
anchor chromosomes to the spindle fibers.
▪ Most plant and fungi cells lack centrioles but still produce similar spindle
fibers.
Phase 2 – Metaphase
▪ Spindle fibers begin moving and aligning the chromosomes to the center of
the cell.
Phase 3 – Anaphase
▪ —Centromeres divide and the sister chromatids (chromosomes), move to the
opposite poles of the cell.
Phase 4 – Telophase
▪ Chromosomes reach the opposite poles of the cell and begin to unwind.
▪ The spindle fibers dissolve and the nuclear membrane forms around the
chromosomes. The result is 2 daughter nuclei.

4.2 – Asexual Reproduction: Clones

Cloning
Cloning: the process of producing one individual that is genetically identical to
another, using a single cell or tissue.
● Mitosis creates daughter cells which are clones of the parent cell.
● Cloning is not limited to natural processes. In the field of biology that is
biotechnology, cloning can be used in engineering, industry, and medicine.

Plant Cloning
● In 1958, plant biologist Frederick Steward was successful in cloning a plant
from a single carrot cell.
● By growing individual root cells in a nutrient-rich medium containing some
plant hormones, Steward was able to get the cells to return to an
undifferentiated state (lacking any resemblance to carrot tissue).
● The cells then restarted the process of growth, specialization, and
development into new plants.
● This technique is commonly used to produce strains of plants with identical
characteristics today.

Animal Cloning
In 1996, cloned by Dr. Ian Wilmut of the Roslin Institute in Scotland, Dolly was
the first mammal to be cloned from an adult body cell. The process involved
transferring an adult cell’s nucleus into an egg in place of the original nucleus. She
was the only successful clone out of 277 attempts.

Dolly
● Dr. Wilmut’s technique involved two cells and three adult sheep.
● He obtained a body cell from the adult sheep he wished to clone and an
unfertilized egg from the second donor sheep.
● Using microscopic surgery techniques, he was able to remove the nucleus
from the egg cell.
● The electrical shock was then used to fuse the adult body cell with the
enucleated egg cell.
● The result was an egg cell containing the nucleus, and a complete set of
chromosomes, from the adult body cell of a different sheep.
● The egg cell was triggered to begin dividing and growing into an embryo
● The embryo was implanted into the uterus of the third sheep, and 5 months
later, Dolly was born.
 Mass Production
● Prized animals can be cloned on a massive scale to improve the production
and quality of livestock.
● A dairy farmer with a herd of top-producing milking cows may have an
advantage.
● By choosing parent organisms that are of the highest quality, growers can
produce clones that will potentially increase yields.
● Cloned species may be very expensive for farmers to produce and maintain.

Implications?
● The long-term risks associated with reduced genetic diversity are unknown
and may be substantial.
● Unnatural or unethical?

Genetically Modified Organisms

● Genetically modified organisms (GMOs) are organisms in which the genetic
material has been altered using genetic engineering techniques.
● GMOs exhibit some of the characteristics of the gene donor species and are
unique organisms.
● Commercial insulin: produced by bacteria and yeast that have been
genetically engineered to contain copies of the human genes that codes for
insulin. Scientists have now also been able to insert the human insulin gene
into a safflower plant.

GM Organisms in Medicine and Industry

Organism Gene Action Benefit
Gene from golden orb spider to Goats produce spider silk protein in their
produce silk protein milk. It is purified and used to make
high-strength ‘spider-web’ fibre.
Genes for the production of a Bananas would contain a vaccine – making
hepatitis vaccine vaccines readily available to developing
countries
Gene involved in the production Pigs produce bacon and other pork products
of omega-3 fatty acids containing ‘healthy’ fats
Genes involved in the starch Potatoes produce starch that is more suitable
production have been altered for industrial applications such as the
production of biodegradable ‘eco-plastics’

Cloning Endangered Species

● Cloning provides an alternative to captive breeding.
 ● In 2003, a banteng (wild bovine) from Java was successfully cloned, giving
scientists hope that cloning may help save endangered species.
● In 2009, an extinct Spanish ibex (wild goat), was cloned using a tissue
sample from a frozen adult ibex. The animal later died, but opened the door
to possibly cloning extinct species.
● How would cloning endangered species decrease the variability in
populations?
4.3 Sexual Reproduction: Adding Variety

•Meiosis – the process by which gametes (sex cells) are formed.

• Meiosis involves 2 stages of cell division (PMAT I and PMAT II), that reduces the
chromosome number from the parent cell in half.
• It results in the production of 4 haploid cells.
•Each gamete will contain the same number and same kind of chromosomes but will not
be genetically identical.

•Haploid, n – the number of chromosomes in a gamete, in humans = 23

•Diploid, 2n – the number of chromosomes in body cells other than gametes, in
humans = 46
•Sexual reproduction involves a haploid egg cell (n=23) being fertilized by a haploid
sperm cell (n=23) to produce a diploid zygote (n=46).
•The zygote then divides to become an embryo containing one set of chromosomes from
each parent. These chromosomes contain different coding for the same genes/traits.
•i.e. If chromosome #3 codes for hair color, you have one copy of chromosome #3 from
your mother and one copy of chromosome #3 from your father. One may code for red
hair and one may code for brown hair.

•Homologous chromosomes - the paired chromosomes that are similar in shape,

size, gene organization, and information.
•When these homologous chromosomes are duplicated there are four chromatids
referred to as a tetrad.

The Stages of Meiosis

Prophase I – nuclear membrane dissolves, centrioles move to opposite poles, and

spindle fibres form. Synapsis occurs, as the homologous chromosomes pair up, and
crossing over (the exchange of genetic material between two chromatids) may occur.
•Metaphase I – Homologous chromosomes line up on equatorial plates.
•Anaphase I – homologous chromosomes move to opposite poles . This is reduction
division – one copy of each chromosome (still duplicate ) is in each new cell.
•Telophase I – membrane forms around each nucleus, not genetically identical
*Cytokinesis occurs to form 2 haploid cells. Chromosomes are then duplicated.

•Prophase II – nuclear membrane dissolves and spindle fibers form.

•Metaphase II – Duplicated chromosomes line up on the equatorial palette.
•Anaphase II – One chromatid (now called a chromosome) moves to either pole.
•Telophase II – nuclear membrane reforms .
*Division is completed by the second cytokinesis producing four haploid daughter cells.
Mitosis Meiosis
Number of Divisions 1,4 stages 2,8stages

Number of cells 2 4

Haploid or Diploid Diploid Haploid

Genetically Identical yes no

Random Assortment of Homologous Chromosomes

•random assortment of paternal vs. maternal chromosomes
–During metaphase 1
–Either daughter cell can receive either chromosome of each homologous pair
–The number of possible combinations depends on the number of chromosome pairs
•For any diploid the number of combinations is 2n

Genetic Variation Occurs from:

•crossing over prophase 1
•random assortment
•combination of two gametes during sexual reproduction

Gametogenesis
•The formation of sex cells through meiosis takes in the ovaries and testes is called
gametogenesis.
•The production of sperm= spermatogenesis
•The production of eggs (ova) = oogenesis

Oogenesis
•The cytoplasm of female gametes does NOT divide equally.
•It produces 1 single ovum (egg cell) and 3 polar bodies
•The polar bodies die
•The ovum is large and contains a large supply of nutrients and organelles in its
cytoplasm
•Females are born with all of their potential eggs that stop developing at the end of
prophase I. When she reaches sexual maturity some of the eggs (approx. 400-500) will
complete meiosis in her lifetime

Spermatogenesis
•Four equal-sized sperm are formed during spermatogenesis.
•Sperm must be small and highly motile
•Males produce hundreds of millions of sperm every day.
Karyotype
•a picture of homologous chromosomes
•chromosomes are ‘frozen’ during metaphase and stained to make banding visible
•chromosomes are paired up based on size and banding pattern
•homologous chromosomes are ordered, decreasing in size, with the sex chromosomes
lasting as a pair of 23

Sex Chromosomes
•chromosomes that determine the sex of an individual
•X chromosome is larger than the Y chromosome.
•Contain matching regions that enable them to undergo synapsis and behave like
homologous pairs during meiosis.
–XX = female –XY = male

•Chromosomes that do not play a part in sex determination are referred to autosomes
.

4.4 Abnormal Meiosis and/or Fertilization

Abnormal Meiosis: Non-disjunction

Nondisjunction: occurs when both homologous chromosomes move to the same poles
during meiosis.
•This may result in an individual having
3 copies of a chromosome, referred to as trisomy, or
•having only 1 copy of a chromosome, called a monosomy.
•Any cell lacking information or with too much information does not function
properly.

Down syndrome
•A chromosomal abnormality in which an individual has three copies of chromosome 21
•Referred to as trisomy 21
•Approximately 1:800 live births produce a child with Down syndrome. The probability
increases with age
–A woman in her forties has a 1:40 chance
•Individuals experience both physical and mental challenges
•Common traits
–Round, full face
–Short height
–•Individuals maintain a wide range of abilities

Disorder Chromosome Characteristics

Abnormality
Turner Syndrome X (missing X)( no Y 1:2500 female births
either ) Female appearance but do
not mature sexually
Most miscarried < 20 weeks
Klinefelter XXY 1:500 male births
Syndrome Males are usually sterile
and exhibit some feminine
body characteristics
Patau syndrome Trisomy 13
1:25000 live births
Serious developmental
problems
Rarely live more than a few
months
Edwards syndrome Trisomy 18 1:6000 live births
Many organ defects
Very low survival rate (< 1
mos)

Diagnosing Non-disjunction
•Prenatal Testing
–Detecting a genetic disorder prior to birth
–Often recommended for women over 35 y/o

1.CVS – chorionic villus sampling (CVS)

•cells are removed from the outer membrane (chorion) surrounding the embryo.

2. Amniocentesis
•cells are removed from the fluid-filled sac that surrounds the fetus
•a karyotype is generated

3. Blood tests – multiple marker screening

–Between 15th-20th weeks of pregnancy
–Looking for specific hormones that indicate risk of birth defects ( i.e. Down syndrome,
spina bifida)

Problems with Fertilization

•In Ontario, approximately 10% of couples trying to conceive experience problems

•Possible causes:
–Poor or reduced egg/sperm quality or production
–blocked fallopian tubes (in women) or epididymis or vas deference (in males)

ART
•Assisted Reproductive Technologies
•Used to increase the sperm and egg production, improve the chance of successful
fertilization and enhance the likelihood of implantation and development

In Vitro Fertilization (IVF)

1.stimulation of ovaries using hormones to increase egg production
2.Egg retrieval
3.Fertilization of eggs outside the body
4.Embryo transfer into uterus

Artificial Insemination (AI)

•Sperm is inserted directly into the uterus
•Fresh or previously frozen sperm can be used

Implications of Reproductive Technologies

Pros - Providing insights into underlying causes of human reproductive disorders

Cons - •Highly controversial

•Significant ethical and moral concerns of applying these technologies to humans

Non-human Applications of Reproductive Technologies

•Applied to breeding and wildlife conservation efforts
•AI has been extensively used in breeding livestock, pets , captive wild animals for
decades.

Benefits of Artificial Insemination:

•Semen can be frozen and stored for long periods
•Can “bank ” genetic information by obtaining semen from many different animals
•Low transportation costs
•Permits breeding of animals that do not breed successfully in captivity