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Chapter 7

Heredity
Key knowledge
Transmission of heritable characteristics
Genes as units of inheritance
Eukaryote chromosomes, alleles, prokaryote chromosomes,
plasmids
Cell reproduction: cell cycle, DNA replication, apoptosis,
binary fission, gamete production, inputs and outputs of
meiosis
Variation: genotype, phenotype, continuous variation,
discontinuous variation
Patterns of inheritance
One gene locus monohybrid cross, including dominance,
recessiveness, codominance, multiple alleles.
Two gene loci dihybrid cross
Pedigree analysis autosomal, sex-linked inheritance, test cross
Heredity
Heredity: is the study of inheritance. Principles of
heredity and patterns of inheritance were first
established by an Austraian monk, Gregor Mendel.
Genetics: study of the mechanism and patterns of
inheritance through the transmission of coded chemical
instructions from one generation to the next.
Genes: segments of DNA that directed the formation of
particular structural and functional protein of cells.
Genes may code for more than one kind of protein
Genome the sum aof all the DNA in the cell of an
organism
Reproduction transmission
of heritable traits
Reproduction transmission of
heritable traits
Cells pass on instructions for growth and
development from one generation to the next
during mitosis and cytokinesis.
Living things that originate from one parent are
said to reproduce asexually. They usually
resemble the parent because they only have
one source of hereditary information.
Organisms that reproduce sexually have two
sources of hereditary material, which are carried
in specialised reproductive cells called gametes.
Chromosomes and Heredity
Genetic information carried in its DNA
molecules. Eukaryotes in the nucleus
Prokaryotes DNA lies free within the cell.
Chromosomes and heredity
Chromosomes of eukaryotes
Chromatin DNA & protein
Nuclear division DNA molecules appear
as double structures each coiled around
histone proteins linked at the centromere.
Chromosomes are normally visible only
during cell division. Eukaryotes
chromosomes exist in pairs.
Changing shapes of chromosomes
Metacentric
Centromere in the centre
Submetacentric
Centromere nearer one end than the other
Acrocentric
Centromere close to the end
Telocentric
Centromere on the end
Chromosomes and heredity
Karyotype
Karyotype standard form used to display and analyse
chromosomes.
Humans somatic or body cell 46 chromosomes
which form 23 pairs of which 22 are matched or
homologous.
One chromosome of each pair comes from the male
parent via the sperm cell and the other from the female
parent via the egg cell (ovum)
Matched pairs autosomes
23rd pair is matched in females (XX) but unmatched in
males (XY) is called a heterosome (hetero-different)
Sex chromosomes
Chromosomes and heredity
Karyotype
Diploid number of chromosomes in each
body (somatic) cell 2n
Trait characteristic
Locus the position a gene occupies in a
chromosome.
Allele alternative form of a gene
Barr Bodies
In female mammals one of two X
chromosomes is inactivated, or turned off
and condenses.
Cell division
Cell cycle
Mitosis process of nuclear division in somatic
cells and cytokinesis, the division of the cell,
results in the formation of two diploid daughter
cells which contain identical sets of
chromosomes.
Meiosis nuclear division results in the formation
of four daughter cells, which each contain half
the number of chromosomes of the original
nucleus haploid.
Cell Cycle
DNA replication
DNA replication (S Phase) occurs between 2
phases of growth (G1 and G2).
G1 phase cells make biochemicals and
organelles
S phases begins with enzyme DNA helicase
unzipping the helix of double stranded DNA
exposing nucleotide bases. happens along a
small section at a time
Hydrogen bonds hold two strands of DNA
together are weak and the enzyme is easily able
to separate them.
DNA Replication
Junction between the unwound single strands of
DNA and the intact double helix is called the
replication fork.
Fork moves along the parental DNA strand so
that there is a continuous unwinding of the
parental strand.
Free nucleotides attach to the exposed bases
according to the base-pairing rule with the help
of DNA polymerase.
DNA ligase seals the new short stretches of
nucleotides into a continuous strand that
rewinds.
DNA Replication
Semi-conservative replication
Outcome of DNA replication is two double-
helix DNA molecules, each consisting of
one parental strand and one new strand.
One of the two strand is conserved from
one generation to the next, while the other
strand is new.
Nuclear division in Somatic Cells -
Mitosis
Interphase
Chromosomes not visible and cannot be
clearly distinguished.
Immediately before mitosis centrioles visible,
chromatin threads become shorter and thicker
visible under light microscope.
Mitosis
Four main stages of mitosis
Prophase
During prophase, chromatin threads condenses and sister chromatids
become visible held togheter by a centromere. A spindle forms and
the nucleolus disappears from view. The nuclear membrane break
downs.
Metaphase
Chromosomes move to the centre of the cell and line up along the
equator.
Anaphase
Chromatids separate and move to opposite poles of the spindle. They
are chromosomes.
Telophase
Chromosomes lengthen and become less visible. A new nuclear
envelope forms and nucleoli reform.
Mitosis
Cytokinesis
Following mitosis, cytokinesis occurs.
Cytoplasm of plant cells divided with
formation of a cell plate which eventually
becomes the cell wall.
Animal cells do not have a cell wall.
Cytoplasm divides by a a process called
cleavage. Cleavage furrow.
Apoptosis
Programmed cell death
Webbing in between fingers.
Crucial part of the development process
Apoptosis plays a large role in cell cycle.
Keeps tight rein on cell division.
Division of Prokaryotic Cells
Prokaryotic bacterial cells simply replicate
their single DNA strand.
Following replication and separation, a
wall forms across the cell and divides into
two cells.
Binary fission.
Nuclear division in sex cells

Meiosis
Meiosis
Stages of Meiosis
Stages of Meiosis Meiosis I
Prophase I
Chromosomes condense, nucleolus disappeares, spindle forms. Homologous
chromosomes side by side synapsis. Homologous chromosomes may coil
around each other. Later they may move apart by the chromatids remain in
contact at points called chiasmata.
Metaphase I
Nuclear envelope breaks down and the homologous chromosomes move
together to the equator of the spindle.
Anaphase I
Homologous chromosomes move towards the opposite poles of the spindle.
Disjunction of pairs of homologous chromosomes is independent of other
chromosomes.
Telophase I
Cell starts to divide across its middle and nuclear envelopes form around the
two nuclei. The spindle breaks down.
Interphase
Brief interphase usually occurs. DNA does not duplicate during this interphase
Stages of Meiosis Meiosis II
Prophase II
New spindle forms at right angles to the first
Metaphase II
Chromosomes move to the equator of the spindle
Anaphase II
Chromatids separate and move apart from each other.
Chromatids become the chromosomes of daughter cells. When
they reach the poles, the cells enter
Telophase II
Spindle disappears, chromosomes regain their thread-like form
and new nuclear envelopes and nucleoli form.
4 haploid cells (n)
Mitosis Meiosis
Nuclear and cell division for growth, repair and Nuclear and cell division for producing sex cell
replacement of tissues. (gametes)
Mitosis takes place in the nucleus of body (somatic) Meiosis takes place in the gonads or reproductive
cells. organs of living things (eg ovaries and testes of
mammals, ovaries and anthers of flowering plants,
spores of some plants).
One cell division completes the process of mitosis Two cell divisions complete the process of meiosis
Two cells are outputs of the process Four cells (gametes) are outputs of the process
Each daughter cell contains the diploid number of Each daughter cell contains the haploid number of
chromosomes (2n) chromosomes (n)
Asexually reproducing organisms (plant cuttings, Sexually reproducing organisms reproduce by fusion
runners, bulbs, prokaryotes) reproduce by mitotic of gametes thus restoring the diploid number (2n) of
division of cells. chromosomes for each cell.
New cells or offspring produced by this kind of Offspring produced by this kind of reproduction show
reproduction do not show variation between them variation between them.
unless there are environmental influences or
mutations; they are genetically identical (ie clones) to
each other.
Variation and diversity of offspring are narrowed Variation and diversity of offspring are increased.
Increasing variation
Mitosis offspring have same DNA as parent cell.
Spontaneous or induced changes in DNA mutations
can result in variation of characteristics.
Environmental conditions stable little variation for
species survival, asexual reproduction is ideal less
energy needed for complex and specialised reproductive
processes.
Sexual reproduction can result in an increase in variation
between generations as there is input from two parents.
If environmental conditions change, some members of a
species may have slight variations in characteristics,
which may or may not give them a competitive edge in
survival.
Patterns of Inheritance
Monohybrid inheritance
Gene a segment of DNA that controls a particular trait
Allele An alternative form of a gene. For example in
pea plants there is a gene which controls pod colours. It
has two alleles A green pods, a yellow pods
Dominant refers to a trait which is expressed when the
organism has either one or two copies of the allele
present for that particular trait.
Phenotype the characteristics shown by a particular
organism. The phenotype is a result of an organisms
genotype and any influences due to the environment.
The genotypes, AA and Aa, would be expected to result
in pea pods showing a green phenotype. The genotype
aa, would result in pea pods with a yellow phenotype.
Monohybrid inheritance
Monohybrid involves one gene, with two different
alleles.
One trait is dominant and the other is recessive.
It is important to note that the traits are dominant
or recessive not the actually alleles.
Pure breeding parents homozygous for that
gene
Individuals with two different alleles = hybrids
heterozygous for that gene.
Monohybrid inheritance
Complete dominance
The law of segregation
Inherited characteristics are controlled by
genes that occur in pairs.
The alleles of each gene will separate
during meiosis so that each gamete only
have one allele of each gene
The law of independent assortment
Each gene pair is inherited independent of
other gene pairs during gamete formation.
Alleles of one gene assort independently
of the alleles of another gene during
meiosis.
Identifying recessive alleles
If the parents do not express the recessive
trait, they must be homozygous. In such a
case.
The first appearance of the recessive trait
within a family is usually in the F1 generation.
25% of this F1 will express the trait
Both males and females can express the trait
unless it is a recessive sex-linked gene.
If one parent does express the recessive
trait
That parent must be homozygous
The trait will not be expressed in every
generation
Both males and females can express the trait
unless it is a recessive sex-linked gene
Identifying dominant traits
If the trait is dominant, at least some offspring in all
generations will show the trait
The trait is passed from the affected parent to at least
50% of the F1 generation. If at least one parent is
homozygous for the dominant trait, then all offspring
will show it. If both parents are heterozygous and the
other is heterozygous for the recessive trait then 50%
of offspring will show it.
Any parents that does not express the trait does not
transmit it to any of the F1.
Both males and females can express and transmit the
trait.
Test crosses
Are a way of determining whether an
organism is homozygous or heterozygous
Test crosses are used to determine an
organisms genotype.
We test cross with individuals that are
know to be homozygous recessive.
By examining the offspring we are able to
identify the genotype of the individual.
Test crosses
Can be used to determine an unknown
genotype.
In a test cross an individual showing the
dominant phenotype but of unknown
genotype is crossed with a homozygous
recessive genotype.
Consider the following examples of crosses
between Aa X aa, and AA x aa
Test crosses
If the unknown genotype is Aa, A a
then at least half of the offspring
a Aa aa
could be expected to show the
recessive character. Genotype ratio a Aa aa
Aa:aa = 1:1.

If unknown genotype is AA, then A A


none of the offspring would show
the recessive character. All of the a Aa Aa
offspring would show the dominant a Aa Aa
feature. Genotype: all Aa.
Dihybrid inheritance
Relationships and Dominance
Co-dominance and incomplete
(partial) dominance
Co-dominance and incomplete
(partial) dominance
Co-dominance refers to a pattern of inheritance
in which heterozygous individuals have a
phenotype different form the phenotypes of both
of the homologous individuals, and the effects of
the two different alleles are both evident in this
phenotype.
Inheritance of ABO blood types in humans is an
example of this.
One gene locus controls the production of
certain antigens present on the surface of red
blood cells. This gene has three alleles.
Blood gene alleles
Allele Expression
IA A type antigens produced
IB B type antigens produced
i Neither A nor B produced

Notice that when dealing with co-dominant of


incompletely dominant inheritance, alleles are shown as
capital letters with a superscript/subscript letter or
number distinguishing the alleles.
Co-dominance and incomplete
dominance
As there are three Genotype Expression Phenotype
possible alleles at this
A type antigens
locus, an individual may IAIA
produced
A type blood

have one of six A type antigens


IAi A type blood
genotypes. produced

The alleles IA and IB are A type antigens


produced and B
IAIB AB type blood
codominant and so are type antigens
produced
both expressed if present.
B type antigens
IBIB
The six possible produced
B type blood

genotypes can produce IBi


B type antigens
B type blood
produced
four possible phenotypes
Neither A nor B
ii O type blood
produced
For your consideration
Consider a cross
between two parents IBi
and IAi.

These parents can


produce offspring with all
four possible phenotypes;
each is equally likely.
Again the gamete
probabilities are
multiplied to find the
probability of each
genotype in the offspring.
Another example
Another example of co-dominance occurs in
coat colour in some cattle and horses.
The offspring of reddish animal and a white
animal will often have the coat colour called
roan, a pinkish tan.
This pinkish appearance is due to the presence
of both white and red hairs.
Both of the alleles are expressed in different
individual hairs.
What offspring might you expect if a roan cow
was crossed with a red stallion?
Incomplete or Partial dominance
Incomplete dominance refers to a pattern of inheritance where
heterozygote are different from both homozygotes, but where the
separate effects of the two alleles cannot be seen in the phenotype.
Examples of incomplete dominance occur in the genes affecting
flower colour in many plants species.
One such plant species is Japanese four oclocks.
One gene determines flower colour. It has two alleles: R1 and R2.
Individual plants have one of three possible genotypes.
These genotypes give rise to three distinct phenotypes.

Genotype Phenotype

R1R1 Red flowers

R2R2 White flowers

R1R2 Pink flowers.


Multiple alleles
Multiple Alleles
As you saw with the example of human ABO blood groups, genes
can and often do, have more than two possible alleles.
An example of multiple alleles at a single gene locus occurs in the
inheritance of coat colour in dogs.
Early wild type dogs were nearly always agouti in colour, with
genotype AA.
During centuries of domestication a number of alternative alleles of
this gene have arisen by mutation.
Amongst dogs today there are five recognized alleles at this one
locus.
The following table shows these five phenotypes in order of
dominance, and the genotypes which give rise to each phenotype.
Remember each individual only inherits 2 alleles, regardless of
how many different alleles exist.
Multiple Alleles
Phenotype Allele Symbol Genotypes
Solid black AS AS AS , AS AY, AS A, AS asa, As at
Dominant yellow AY AY AY, AY A, AY asa, AY at
Agouti A A A, A asa, A at
Saddle pattern asa asa asa, asa at
Tan pattern at at at

The five alleles at this locus means there are 15


different genotypes and 5 different phenotypes.
The table on the next page shows the number of
possible genotypes for a locus with multiple
alleles.
Multiple Alleles
Number Number of The number of phenotypes is a
Calculation
of alleles genotypes bit more complicated. If the
alleles in the series all show
2 3 2+1 complete dominance then the
number of possible
3 6 3+2+1 phenotypes is equal to the
number of possible alleles.
4 10 4+3+2+1 If however, some of the alleles
are co-dominant there can be
more phenotypes, e.g. the
5 15 5+4+3+2+1 human ABO blood group has 3
alleles, 6 genotypes and 4
6 21 6+5+4+3+2+1 phenotypes.

n n+(n-1)+(n-2)+..1
Lethal genotypes
Some dominant traits are lethal in homozygous
individuals. An example of this occurs in a gene which
determines coat colour in rats.
A mutant allele (Y) produces yellow pigmentation in
heterozygous (Yy) rats. The alternative allele (y)
produced normal pigmentation in homozygous rats.
A zygote which is homozygous (YY) for the yellow allele
fails to develop and hence is never born.
Consider a cross between two yellow rats. (Yy X Yy).
Litter sizes will smaller than average, as of offspring
are not born.
Those which are born are yellow or normal pigmented in
the ratio of 2:1
Lethal genotypes

Gametes Y Y

Y YY (lethal) Yy (yellow)

y Yy (yellow) yy (normal)
Polygenic Inheritance
Polygenic inheritance
Many aspects of phenotype are influenced by many genes.
These traits are known as polygenic.
The greater the number of genes influencing a phenotype the great
the variation there will be in the trait in a population of organisms.
Traits influenced by a single gene generally have only two of three
possible phenotypes.
Populations of organisms show discontinuous variation for these
traits.
Consider the gene for the Rhesus blood factor in humans.
There are two possible phenotypes, Rh+ and Rh-, and each person
has one of these two.
Data for Rhesus blood factor in a population for the general
population would look like this.
Each person is Rh+ or Rh-, there is nothing in between.
Polygenic inheritance
Feather colour in budgerigars is influenced by
three genes.
Variations in these three genes produce seven
feather colour phenotypes in budgies.
Each colour is distinguishable from the others,
so the budgies are still said to show
discontinuous variation.
The feather colour data for a group of domestic
budgerigars might look something like this.
Polygenic inheritance
When a large number of genes influence an
aspect of phenotype a population will show
continuous variation.
Individuals phenotypes will be impossible to
distinguish.
There are many genes which influence height.
The interaction of all of these genes produces
continuous variation in a population of
organisms.
Similar patterns of discontinuous variation are
found in other polygenic traits such as skin
colour, weight and seed size.
Pedigree Analysis
Pedigree analysis
A pedigree can be drawn to show the inheritance of a trait in a family
or families.
Pedigrees show only phenotypes but often genotypes can be
worked out from them.
If you are asked to determine whether a trait is dominant or
recessive, sex linked or autosomal you need to model each
possibility to see if it is possible.
Too often students assume the most common trait in a
pedigree is dominant, or that a lot of affected males indicates
that the trait must be sex linked.
The only way around these mistakes is to make and test
assumptions about the inheritance of the trait.
The table on the next page shows a number of pedigrees and what
can be deduced from them.
In all of these examples A represents the dominant phenotype, and
a represents the recessive phenotype.
Pedigree Analysis
Male
Female
Autosomal Recessive Inheritance
Two copies of the allele must be present for an individual
to have the trait
Both males and females can be affected
Characteristic can skip a gneration or generations
Affected individual can have unaffected parents, as both
may be heterozygotes (carriers), so they do not actually
show the trait
If both parents have the trait, then all the offspring will
have the trait.
Over many generations approximately equal numbers of
males and females will be affected.
Autosomal dominant inheritance
One copy of an allele is sufficient for expression of a trait
The allele must be expressed in every generation for the
trait to continue (once it disappears from a branch of the
pedigree it does not reappear, unless it is reintroduced
by a person from outside the family)
Males and females are affected
All affected individuals have at least one parent with the
trait
Transmission can be from either parent to either sons or
daughters
Over many generations approximately equal numbers of
males and females will be affected.
Sex (X) linked recessive
inheritance
Males are XY therefor an X-linked allele present will be
expressed.
Females are XX and will need to carry a copy of the
gene on each of their X chromosome for the
characteristic to be expressed.
A mother with the trait passes it on to all of her sons.
All daughters of the fathers with the trait are carriers,
therefore will not show the trait although their sons may
have the trait.
Fathers with the trait cannot pass the characteristic to
their sons
If both parents show the trait the children will have the
trait
More males than females show the trait
Sex (X) linked dominant inheritance
All daughters of affected fathers have the
trait
Mothers may pass it onto sons and
daughters
The trait does not skip generations to
reappear in later generations.
Over large numbers of generations more
females than males are affected.
Pedigree Dominant/Recessive? X-Linked (Sex-linked) or Autosomal

It is recessive. If it is X-linked then the daughter


must be XaXa.
Two parents who do not have the trait
have produced children who do. For her to have this genotype her father would
have to be XaY. He is not!. The trait cannot be
The trait must be recessive.
recessive and X-linked. The trait must be
autosomal.

It is dominant. If it was X-linked parental


genotypes can be XAXa and XAY. The boys are
Two parents who have the trait have XaY and the girls could be XAXA or XAXa.
produced children who do not. The trait
must be dominant. X-linkage is possible, though not proved. This
pedigree is also consistent with autosomal
dominant inheritance

It is recessive. If it is X-linked then the sons are


XaY and the daughter is XA_. These genotypes are
Two parents who do not have the trait possible if the parents are XAXa and XAY. X-linkage
have produce children who do. The trait is possible, though not proved. If the sample size
must be recessive. was very large and females were always
unaffected and males often affected, you could
infer X-linkage.

One parent and one child have the trait.


If it is X-linked and recessive then the parental
You cannot conclude dominance from
genotypes are XAY and XaXa. All of the sons would
this. If it is recessive, the parents are:
be affected. One is not affected so the trait cannot
male Aa and female aa. If it is dominant:
be X-linked and recessive. If it was X-linked and
male aa and female Aa. Both
dominant the parents would be XaY, XaXa and XAY.
possibilities are consistent with the
This is possible given what we know.
information in the pedigree.

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