Bio 6 KCi C

keep it simple science
keep it simple science Key Concepts in Colour HSC Biology Topic 2
Blueprint of Life
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Slide 1
Blueprint of Life
Chromosomes & DNA
You will next move on to study things that Darwin & Mendel would have been delighted to have known... the cellular and molecular basis of Genetics and Evolution. You will see the link between inheritance, cell division, chromosomes and the basis of it all... the DNA molecule and the Genetic Code.
HSC Biology Topic 2
Introduction
Evolution
In earlier topics you were introduced to the concept of Biological Evolution, and the mechanism of Natural Selection. Now you will study in more detail the evidence for evolution and the Theory of Evolution.
Chromosomes
Genetics
The science of inheritance was discovered about 150 years ago by a monk living in an obscure monastery in central Europe. In this topic you will study the simple patterns of inheritance that he discovered. Gregor Mendel (1822-1884) experimented with garden peas for 12 years to work out how parents pass on their characteristics to offspring. You will study his results and the reasons for his success as an experimenter.
Part of a DNA molecule
In the section on Molecular Genetics you will learn how the DNA acts to control all the characteristics of each organism (the phenotype) and how Mutations can occur to alter the code and produce new characteristics for evolution to work on. In the final section you will look briefly at where modern Biology is heading into Reproductive
Technologies and Genetic Engineering.

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Slide 2
Evidence for Evoltion
Theory of Evolution
Mendels Experiments
DominantRecessive Inheritance
1. Evolution
2. Genetics
Chromosomes, Genes & DNA Meiosis
Blueprint of Life
3. Chromosomes & DNA
Sex-Linkage & Co-Dominance
5. Reproductive Technology & Genetic Diversity

4. Molecular Genetics & Mutation
DNA Replication, Transcription & Translation
Mutation Mutation & Evolution

Slide 3
1. EVOLUTION OF LIFE
The Evidence for Evolution
There is overwhelming evidence that life on Earth has undergone a sequence of changes over the past 3.5 billion years or so. Here, briefly (K.I.S.S. Principle) are the main sources of that evidence:
youngest
Palaeontology
(The Study of Fossils)
The fossil evidence is undoubtably our most important, direct evidence showing that life on Earth has changed. The fossils not only show that life was once different, but that the changes follow a pattern or sequence... this is evolution. Ancient Life
These fossils correlate to each other.
Patterns of Change e e
Modern Life
oldest
Simple types Less variety Less like present-day life d
More complex types Greater variety More and more resembling modern life
The coresponding rock layers (in different places) must be the same age.
Initially, scientists could only place fossils in relative time order by correlating the sequences, as suggested in the diagram.
How do we know this to be fact? Not only do we have many fossils of extinct organisms, but we can place them in time sequence to see the patterns.
Now we can also place absolute times on many fossils by Radiometric Dating... the determination of the actual age of things by measuring the residual radioactivity of certain, naturally-occurring radioisotopes in the rocks.
Slide 4
Fossils of Transitional Forms

When this fossil was first discovered, its skeleton was clearly that of a small dinosaur. Only later was it noticed that the faint outlines around the fossil were the impressions of feathers. This was a dinosaurbird! Transitional fossils are important evidence that each new type of life that appears in the fossil record did in fact evolve from a previous ancestor. Scientists have discovered transitional fossils showing: reptiles evolving to become mammals. ferns evolving to become cone-bearing plants. lobe-finned fish evolving into amphibians. ...and many more, including fossils of our own probable ancestors, who were very ape-like, but undoubtably human-like too!
Bony jaw with teeth Clawed wings Bony tail covered in feathers
Only a tiny fraction of all the zillions of organisms that have ever lived have ended up being fossilised. The fossil record is, therefore, incomplete and a rather patchy record of evolution. Despite this patchiness, there are some fossils that have given us a glimpse of the change that occurred when one type of life was evolving into another. Such fossils are called Transitional Forms Perhaps the most famous is
Archaeopteryx.
Fossil
(Archae= ancient, pteryx= wing)
Reconstruction
It is very unlikely that Archaeopteryx could fly like a modern bird. It may have climbed trees & glided down on insect & lizard prey KCiC Bio 6 Blueprint of Life copyright 2009 keep it simple science www.keepitsimplescience.com.au
Slide 5
Biogeography
(how life is distributed) Another aspect of Biogeography was seen by Darwin on a much smaller scale in the Galapagos Islands. He discovered that the islands were populated by many different species of small birds... finches. Although all were obviously related to each other, each separate island had its own particular species.
Ancestral Finch
When Charles Darwin travelled around the world on board HMS Beagle in the 1830s, it was the distribution of different types of life in different places that first gave him the idea for Evolution. He noticed that each continent had its own characteristic biota, often showing similar features although often not closely related to each other. For example, each continent has characteristic grazing mammals: North America. All these animals are relatively large, fastrunning, with flat grinding teeth, and all lead pretty much the same lifestyle.
Cattle-related r
Island 1
Island 2
Island 3
Original illustration from Darwins journal
OZ marsupials
Sth America. Camel-related r
Why?
The explanation is: the islands were first colonised by one type of finch which spread to all of the islands in the group. on each separate island conditions were different (eg different foods available) so each population evolved in a different way, into a different species. BIOGEOGRAPHY doesnt prove Evolution has occurred, but many facts about the distribution of organisms are best explained by Evolution
So why is there not Africa. just one type of large Horse-related r grazer in the world, living on every continent? Evolution explains why. On each separate continent different animals have evolved to fill the large grazing herbivore role, often beginning that evolution from an ancestor quite different to that on other continents.
Slide 6
Comparative Embryology
If the embryos of various vertebrate animals keep it simple science Comparative Anatomy are compared, it is found that they are When the body structures of different organisms are remarkably similar, even though they later develop compared, it is often obvious that they share into quite different animals. common features, even though those body parts Some Vertebrate Embryos... might be used in different ways. The classic example of this is the Pentadactyl Limb structure of the vertebrate animals
1 bone in upper arm 2 bones in forearm ...and what they develop into 5 sets of finger bones Not to same scale
Why should they be so similar when they grow up to be very different animals? Why should (for example) a human embryo have a tail and gill arches like a fish? Evolution explains this as the result of all these animals evolving from a common ancestor which had an embryo like this.
Human arm
Whale flipper
Bat wing
Each limb is used in very different ways by animals that have very different lifestyles, yet all have exactly the same basic arrangement of bones. Why? Once again, these are FACTS that are consistent with, and easily explained by, the concept of EVOLUTION. Evolution explains this as the result of all these animals evolving from a common ancestor which had this bone structure.
Slide 7
(Penta= 5, dactyl=fingers)
Biochemistry
All the life-forms on Earth have remarkable similarities at the molecular level. All organisms have basically the same: genetic code in their DNA. enzymes used for basic metabolic processes, such as cellular respiration. structural chemicals in their basic cell components, such as the phospholipids in cell membranes. WHY SHOULD ALL ORGANISMS HAVE THE SAME STRUCTURES AND CODES IN THEIR DNA? Once again, this doesnt prove that evolution occurred, but it is consistent with the idea that life on Earth has evolved from common ancestors who had these biochemical features.
Selective Breeding
People wonder how one organism can just turninto another by evolution. No individual animal changes during its life-time. The changes occur from one generation to another, as certain features are selected in favour of others. Humans have been of dogs are doing it to plants & descended animals for centuries. from the Human farmers have wolf. always chosen which seeds to keep for next years crop, or which bull to breed with the cows. This has drastically changed all these plants and animals. Modern wheat is nothing like the wild grass we believe it was bred from. Cabbages and cauliflowers used to be the same thing, but have been changed by selective breeding. Selective Breeding proves that a species can be changed. Humans can do it artificially, in the wild it happens by Natural Selection
All breeds
Slide 8
New Technologies Change Our Ideas About Evolutionary Relationships

The new technology of analysing the sequence of DNA molecules is changing our ideas about the evolutionary relationships between living things. This relationship has been overturned by DNA analysis. DNA sequencing shows that birds and crocodiles are more closely related to each other than either is to the lizards.
CLASSIFICATION IN THE FUTURE? LIZARD is DIFFERENT Croc & Bird in SAME GROUP Based on DNA studies, which show evolutionary relatedness
For example, the evolutionary relationship between LIZARDS, CROCODILES and BIRDS. Traditionally crocodiles & lizards are classified as Reptiles and considered a separate class to the Birds. It was always thought that the lizards and crocodiles were more closely related to each other than to the birds.
TRADITIONAL CLASSIFICATION BIRD is DIFFERENT Croc & Lizard in SAME GROUP
Based on body structure

Stand by for more revelations as DNA analysis reveals more!

Slide 9
The following activity might be completed by class discussion, or your teacher may have paper copies for you to do.
Activity 1
Evidence for Evolution
Student Name .................................
1. Describe the general patterns of change (in living things) revealed by the fossil record.
2. Some areas of study which give evidence of evolution include: Transitional Fossils Comparative Anatomy Biogeography Biochemistry Comparative Embryology Selective Breeding
Circle the area(s) of study which are evidence of common ancestry. 3. a) What is a transitional fossil? b) Name a well-known example. c) What evidence of evolution do such transitional forms provide?
Slide 10
Origin of a Theory
Darwin & Wallace
In the 1830s a young naturalist, Charles Darwin (1809-1882), voyaged around the world on the naval survey ship HMS Beagle. He became convinced that living things had changed, and spent the next 20 years researching, gathering evidence and developing the how of a theory to explain evolution.
Meanwhile, another Englishman, Alfred Wallace (1823-1913) came up with exactly the same idea after his journeys in the 1840s and 1850s. We often give Darwin most of the credit for this major scientific theory, but Wallaces contribution should not be forgotten.
Charles Darwin
The Darwin-Wallace Theory of Evolution

You need to learn the details of this theory. This is best done as a series of numbered points.
In 1859 they jointly published an outline of their theory, and Darwin followed up with his detailed book Origin of Species about 2 years later.
2. In every species there is variation among the individuals.

Each animal or plant is slightly different to the other members of the species. The differences may be slight, and might not be easily visible, but theyre important!
1. All organisms produce more offspring than can possibly survive.

Plants scatter thousands of seeds and maybe only one ever makes it to plant maturity. Oysters produce a million eggs at a time, but only 1 or 2 survive. In all species, the breeding rate is far higher than the survival rate.
4. Those best suited to their environment survive, reproduce, and pass on their characteristics.
This is called Survival of the Fittest, and it will be discussed in more detail later.
3. Nature selects which individuals survive.

This is called Natural Selection. It is explained in more detail in the next slide.
Slide 11
5. Over generations, the species changes... It Evolves.

Each generation is slightly different than before, because only some, selected individuals have bred and passed on their characteristics.
Natural Selection
How Evolution Works

A population of a species with a lot of variations
Natural Selection refers to the way that the conditions of nature constantly select who survives and who dies. If survival depends on speed to run from a predator, then the faster individuals survive and the slower ones get eaten. In a drought those plants with slightly thicker cuticle on their leaves conserve water and survive, while others die.
hairy
long neck
long legs
light colour
big ears
squat body
What Factors Help Survival?

Anything might be a help survival under different conditions... a stronger immune system survives diseases. being more inquisitive might find more food. more timid behaviour might avoid dangers. brighter coloured flowers might attract more pollinators. larger body size might deter predators. smaller body size may be better to hide from predators It may seem as if Evolution is an intelligent force which directs organisms in a an appropriate direction. In our fictitious population of animals, (at right) the climate became colder and it would seem that some evolutionary force caused an appropriate change in the population... the animals became squat & hairy to conserve body heat better. But of course squat and hairy were already in the population. Their type simply became more common, and finally predominant, because they survived in greater numbers and reproduced to pass on their characteristics to their offspring.
Then, the climate changes...
winters get colder
Natural Selection
hairy survives
Many die in the harsh winters
Squat survives Survivors breed over many generations
Survival of the Fittest
The survivors pass on their characteristics. Generations later, most of the population are squat and hairy. No single animal changed, but the population has changed because of which animals survived and reproduced.
Eventually it changes so much that it becomes a different species.

The Species has Evolved.
Slide 12
Environments can change in many different ways. For example, we know that ice-ages keep it simple science come and go, and climates change as the continents gradually drift to new locations. Any change in an environment will result in Natural Selection picking out different characteristics for survival and the species will evolve in line with the environmental change. If the change is sudden and drastic, there will be fewer survivors every generation and the species may decline into extinction!
Effects of Changing Conditions
A Change in the Physical Environment

A classic example of micro-evolution is the change in the population of the English Pepper Moth which has been studied and documented over the past hundred years. This moth always rests during the day on tree trunks, which in natural forests, are mostly covered in light-patterned lichens. Under these conditions the light peppery moths are the most common form, although occasional black moths occur. During the coal-burning phase of the Industrial Revolution many forests were damaged by pollution. The lichens were killed and tree trunks blackened with soot. It was observed that the Pepper Moth population changed in the proportion of peppery to black types. Now that industrial pollution has been stopped, the moths have evolved back to being mostly of the lighter-coloured type.
KCiC Bio 6 Blueprint of Life copyright 2009 keep it simple science www.keepitsimplescience.com.au In unpolluted forests, the lightercoloured moths are camouflaged... They are fittest for survival and breeding.
Lighter-coloured c moths survive and breed in greater numbers
Predators spot the black moths more easily
Population ratio. The black form is rare.
In polluted forests, the dark-coloured c moths are better camouflaged... They are fittest for survival and breeding.
Black moths survive and breed in greater numbers
Predators spot the lighter moths more easily
Population ratio. The lighter form is rare.
Slide 13
A Change in the Chemical Conditions of the Environment

Over many generations the non-resistant types were killed, and resistant types kept surviving and breeding until almost the entire population was resistant. DDT was no longer useful for killing insects. (Just as well, because DDT caused ecological damage by Biological Magnification.) The DDT acted as a Chemical Selecting Agent resulting in the evolution of the insects by natural selection and survival of the fittest. Similar examples have been observed with bacteria becoming resistant to Penicillin and other antibiotics.
If there are some individuals who are perhaps less fussy about their food or nesting sites (what ever the resource might be) and who can survive on slightly different foods, then they will have an advantage to survive. Survivors breed and pass on their characteristics. Over generations the species evolves to be using a slightly different resource. Therefore, it is no longer in competition and both species can survive... a Win-Win situation. This outcome is called Resource Partitioning and is commonly observed in nature. For example, the predatory big cats of the African plains avoid competition because each has slightly different preferences among the various prey animals. They also have different hunting techniques, so they avoid direct competition. Slide 14
Another example of microevolution was observed when DDT insecticide began to be used against a variety of insects, such as disease-carrying mosquitoes or crop-eating pests. Initially, the chemical was a huge success, destroying the insect populations. But then Natural Selection did its thing... Among the millions of insects in each population there was variation. A few individuals had a natural resistance to the DDT and they survived and reproduced and passed on their resistance to their offspring.
Natural Selection and Competition

In a previous topic it was pointed out that competition between 2 species for the same resources usually results in a winner and a loser... the loser becoming extinct, at least within the area of competition.
Population Size (ABUNDANCE) A TYPICAL COMPETITION GRAPH Species using resource. Population stable
ER N IN W
New competitor enters ecosystem
LO SE R
TIME (years)
However, this is not the only possible outcome.

More on Survival of the Fittest

Survival does not just mean survival. The biggest toughest animal in the herd, who scares predators away, gets to eat most of the food and lives to a ripe old age, is a complete failure if it does not reproduce! In evolutionary terms Survival means to survive and reproduce.
The Importance of Variation

It is vital for the on-going survival of a species that it has variation among the individuals of the population. When changes occur in the environment, a species with a lot of variation has more chance to survive, because out of all the different types there is a good chance that at least some will survive to breed and continue the species. A species with little variation within it, might have no survivors from an environmental change, and become extinct. What constitutes an environmental change?
Reproduction is the true measure of survival.

An animal which does not live long, but manages to produce many, viable offspring is an evolutionary success! Fittest refers to those individuals with a combination of characteristics best suited to their environment. It doesnt just mean biggest, fastest, strongest... those best suited to some environments might be the smallest, sneakiest, most cautious types. ... or the most charming and socially acceptable y
a change of climate. a new disease, predator or competitor. a change in availability of a food.

...or any other biotic or abiotic factor of the environment.
It could be...
Slide 15
It is easy to imagine that evolution has a target that it aims for. Looking back at fossil ancestors of a modern species, its easy to think that those ancestors were deliberately evolving to become the modern, final species. Of course, the modern species is NOT the final outcome at all. Evolution has no targets. It is an on-going process which continues to cause changes. In 100 million years time, the fossils of todays creatures will seem primitive.
Directions of Evolution
Divergent Evolution
(Diverge = move apart) Ancestral Finch
One of the aspects of evolution to be aware of is the importance of Isolation. Rember Darwins finches on the Galapagos Islands? From one ancestral species of finch over a dozen different species evolved on the islands in the group. Once a population of finches colonised a new island they were isolated from other populations. Movement of birds between islands must have been a rare event, and each population was effectively cut off from other populations. On each island conditions were different... different foods were available, different conditions of water supply, shelter, nesting sites, predators and so on. Natural selection caused each population to evolve along a different path until they became different species... they had diverged!
Island 1
Island 2
Island 3
Now, even if they mixed together again, they could not interbreed because their mating rituals, sperm & egg cells and DNA have changed to become incompatible. They are forever separate. This is how we think all species have arisen from common ancestors over millions of years.
Slide 16
Convergent Evolution
(Converge = come together)
If totally different organisms live in the same kind of environment and lead similar lifestyles they will be subject to the same sorts of Selection Pressures and evolve many of the same features, so they may come to resemble each other even though not closely related at all. A classic example is the shark (a fish), dolphin (a mammal) and the extinct ichthyosaurus (a reptile).
All 3 animals are (were) fast-swimming fish-hunters of the ocean. All evolved the same streamlined shape, powerful tail, dorsal fin and sharp teeth to suit this lifestyle. The resemblance is superficial, and they are very different in the details of body structure and metabolism. For example, the shark is a gill-breathing ectotherm, while the dolphin is a lung-breathing endotherm.
There are many other examples of such convergence.
Slide 17
Activity 2
Theory of Evolution
Student Name .................................
1. The Theory of Evolution can be stated in 5 points. The following list is all jumbled up. Re-arrange them into correct order. Survivors breed. More offspring than can survive. Species changes. Nature selects survivors. Variation within species. 2. Students often confuse Natural Selection & Survival of the Fittest. Explain how they are different.
3. Micro-evolution is when a genetic shift occurs within a population due to natural selection. While it does not produce a new species, it does show how a population can undergo an evolutionary change over generations. Briefly describe an example of micro-evolution due to: a) a change in the physical environment. b) a change in the chemical environment. 4. Birds and bats are not closely related, but have some similar features such as wings, light-weight bones, etc. Why? What sort of evolution caused this?
Slide 18
2. MENDELIAN GENETICS
For example, when TALL plants were crossed with DWARF:
In Charles Darwins lifetime there were 2 parts of his Theory of Evolution that no-one could explain: Where Does Variation in a Species Come From? (That will be explained later in this topic) How Are Characteristics Passed On to Offspring? That will be explained right now!
X is shorthand for crossed with
F1 (1st Generation) Offspring were ALL TALL
Gregor Mendels Experiments

Mendel was the Abbot of a monastery in what today is the Czech Republic. He was trained as a teacher and was not a professional scientist, but became interested in discovering how inheritance works. The monks grew most of their own food, so Mendel worked his investigations into the day-to-day vegetable gardening by experimenting with garden peas. First he bred his pea plants over several generations to select plants that were pure breeding for certain contrasting characteristics, such as...
TALL DWARF PURPLE FLOWER WHITE FLOWER
Next, he self-pollinated the plants of the F1.

TALL F1 plant SELF
X
SELF POLLINATED
Mendel didnt do this with one or two plants, but with hundreds. His 2nd generation totalled thousands of plants, not just a few. He got the same result with flower colours, seed shapes, seed pod colours, and so on. In every case the first generation always took after one parent completely, and the second generation always appeared (in their thousands) in a ratio of very close to 3:1.
Each type was pure breeding, meaning that if they were selfpollinated they always produced offspring of exactly the same type as themselves.
occurred in a ratio of 3:1 Then he cross-pollinated 2 contrasting types to obtain hybrid (cross-breed) offspring. The result was that all the offspring showed the characteristic of Mendel explained this result by suggesting that the factor (GENE) which caused Tallness was one parent and none took after the other. DOMINANT to the gene for Dwarfism. Dwarf is RECESSIVE to Tall. KCiC Bio 6 Blueprint of Life
copyright 2009 keep it simple science www.keepitsimplescience.com.au
F2 (2nd Generation) Offspring
Slide 19
Mendels Explanation of Results
(Using Modern Terminology) Each characteristic is produced by factors (we now call them genes) carried by the plants. For example, there is a gene for tallness of stem, and a corresponding gene for dwarf stem. There is a gene for purple flower and another for white flowers, and so on for other characteristics. The genes which control opposite forms of the same characteristic are called alleles, or allelic genes. Genes for tall and dwarf are alleles. Genes for purple flower and white flower are alleles. One of the alleles is Dominant over the other, which is said to be Recessive. We usually use letters of the alphabet to designate this: e.g. Tall ( T ) is dominant to Dwarf ( t ) Purple flower ( P ) is dominant to white ( p ) Each plant carries 2 genes for a characteristic. The 2 genes may be the same as each other (homozygous) or different to each other (heterozygous). Example: for the height characteristic, the possibilities are: TT = homozygous, Tall plant Tt = heterozygous, Tall plant (T dominant) tt = homozygous, Dwarf plant
Mendels Pure-Breeding B parent plants were homozygous for each trait... 2 genes the same
These are Phenotypes... descriptions of the outward appearance x

Only 1 gene is passed into gametes GAMETES
PARENT PLANTS These are Genotypes the actual genes present
Tall TT
Dwarf tt
All the F1 offspring receive this combination of genes
Fertilisation
Tt Tall
ALL THE F1 OFFSPRING ARE TALL, BUT HETEROZYGOUS
Self-pollinating p the F1 plants is the same as crossing with the same genotype
Next, the F1 plants were selfpollinated to produce the F2 Tall Tt x Tall Tt
T
possible fertilisations
Possible GAMETES
Although each plant carries 2 genes for each characteristic, only one gene is passed into the gametes (pollen or ovules). Each parent passes on one gene, so the offspring gets one from each parent and gets back to having 2 genes for the characteristic. Which one of the 2 genes for each characteristic is passed on is completely at random.
TT TALL
Tt TALL
Tt TALL
tt DWARF
Ratio of Phenotypes
3 Tall : 1 Dwarf
Slide 20
Reasons for Mendels Success as an Experimenter

Gregor Mendel had discovered the basic mechanism of inheritance. Scientists before him had studied inheritance, but had failed to discover the simple patterns. Why was he successful? He chose simple, easily-identified characteristics which occurred in just 2 forms. e.g. height was either tall or dwarf. He began with pure-breeding parent plants. He bred large numbers of plants so that the numbers of offspring were statistically significant.
Reasons Why Mendels Work Was Ignored

Mendel published his results in 1865 in a German Science journal and was totally ignored. Why? He was not a recognised scientist, and had no contact with the scientific establishment of his time. His work was read by only a small circle of people, who failed to see its significance. His work was written only in German, while all the important science of that time was appearing in English or French, in well-known journals in England, France & USA. It was not until well after Mendels death that in 1900 his work was discovered by scientists, and his great contribution was recognised. He is now known as the Father of Genetics.
Why Large Numbers Were Important

His experimental ratios were approximately 3:1, but not exactly 3:1. This is because the actual combinations of gametes at fertilisation occur at random. He bred large numbers of plants and so his actual ratio was very close to theoretical. (If hed bred just a few offspring then random chance could have produced misleading results.)
Slide 21
Monohybrid Crosses
mono = 1 (referring to just one characteristic) hybrid = cross-breed
Sample Problem 2
In drosophila fruit flies, the allele for long wings (L) is dominant to the allele for short wings ( l ). A pure breeding long-winged fly was crossed with a short-winged fly. Their offspring were allowed to mate among themselves to produce a second generation. There were 240 flies in the F2. Predict how many of each phenotype would occur.
Sample Problem 1
In mice, black coat (B) is dominant to albino (b). Predict the outcome of mating a heterozygous black mouse with an albino.
Solution
To work out the F1, a punnett square is not really needed. Parents genotypes: Gametes possible:
Solution
Parents are
Bb B&b b B b Bb bb
x
gametes
bb b&b b Bb bb
LL x l l L only and l only
All the F1 flies must Ll be Genotype: Phenotype: 100% Long winged Then, for the F2:
Genotypes of parents List of all possible gametes
Ll L&l L L l LL Ll
x
gametes
Ll L&l l Ll ll
The Punnett Square

The working out of a cross by a diagram can be a bit messy and confusing. A scientist called Punnett invented a simple method which you must learn to use.
Phenotypes of Offspring Black : Albino 1:1 50% : 50%
Punnett Square table shows all the possible offspring genotypes The phenotypes of offspring are written as a ratio or percentage
You will soon come to realise that only 3 outcomes are possible: 100% : zero 50% : 50% 75% : 25%
Phenotypes of Offspring Long Wing : Short Wing 3:1 75% : 25%
If the F2 comprises 240 flies, we should expect close to 180 long-wing flies and 60 short-wing flies. However, this is a statistical prediction only, and we should not be surprised if the actual numbers were (say) 190 to 50, just by random chance.
Slide 22
Pedigrees (Family Trees)
Example
In humans, some people can roll their tongue while others cannot. This is passed on by simple Mendelian Inheritance. Here is a pedigree of a family showing how this trait was passed on.
Generations 1 2
Another skill you must learn is how to read, interpret and construct a pedigree diagram. This is a diagram showing the inheritance of a trait through a family. It is used particularly with human families to trace some characteristic over a number of generations. Symbols Used in Pedigree Diagrams Male with trait being studied Female with trait Male without trait Female without trait
Can you tell which gene is dominant?
Can you work out (most of) the genotypes?
II
III
8 9
Horizontal connections are marriage lines. Vertical lines lead to children of that couple. Each generation is numbered by Roman Numerals. Individuals may be numbered for identification.
Sarah can... Nathan cant
Uses of Pedigree Diagrams

Pedigree diagrams are used to study human inheritance because it is not moral or ethical to carry out breeding experiments on people to discover which traits are dominant/recessive. Some human disorders are inherited. Examples are haemophilia (in which blood will not clot properly) and colour-blindness (inability to distinguish certain colours). Health professionals can study affected families by compiling a pedigree chart, then advise people about the risks to future children. This allows people to make informed decisions about family planning.
Slide 23
Activity 3
Mendelian Genetics
1. Explain each of the following terms: a) Alleles b) Dominant gene c) Recessive gene d) Phenotype e) Genotype f) Homozygous g) Heterozygous
Student Name .................................
2. What ratio of offspring is likely to occur in each general case? a) Parents: homozygous-dominant gene x homozygous recessive gene. b) Parents: both heterozygous. c) Parents: heterozygous x homozygous recessive gene.
Slide 24
3. CHROMOSOMES & DNA STRUCTURE

Actual Photo (false colours) of human chromosomes Before cell division, each chromosome is duplicated. Study the diagram. The original and its exact copy remain attached to each other, as a double chromosome. Each part of a double chromosome is called a Chromatid.
Homologous pair of Double chromosomes
Chromosomes
Mendels discoveries were re-discovered by mainstream science in 1900. At about the same time, new techniques in using stains to highlight specific parts of the cell had led to the discovery of chromosomes. The combination of Mendelian Genetics + Chromosomes was the next big breakthrough.
Things you need to know...

Chromosomes are thread-like structures in the nucleus of cells. They become visible (to a light microscope) only during cell division. Chromosomes have genes along their length. There may be 1000s of genes on one chromosome. Chromosomes occur in pairs. Chromosomes in a pair are called homologous. Homologous chromosomes correspond with each other by carrying allelic genes in corresponding locations. Study this diagram to get the idea. Consider 3 sets of genes. Genotype is AaBbCc. (heterozygous for each characteristic) This is how the genes could be located on some chromosomes. Notice that homologous pairs correspond with each other, but are NOT identical.
A B C
A B C
a b c c b
Homologous pair A B
a b
Indentical Chromatids in each chromosome
Another Homologous pair
The chromatids in a double chromosome are identical... (look at the genes in the diagram) but the homologous partners are not identical... merely corresponding.
Slide 25
Mitosis & Meiosis
You should already be familiar with the difference between these processes of cell division in terms of their outcomes. Now look more carefully at what happens to the chromosomes during each process. ORIGINAL BODY CELL with 4 chromosomes (2 homologous pairs) This cell is DIPLOID (abbrev. 2n) (chromosomes in pairs) In this case, 2n = 4
Mitosis
Chromosomes line up in a single line.
Nuclear membrane dissolves
In BOTH processes, the chromosomes are first duplicated, to form double chromosomes
Meiosis
Chromosomes line up in their homologous pairs
Nuclear membrane dissolves
Chromatids separate
Homologous pairs separate and cell divides in 2.
Cell Divides in 2 2 Daughter cells
Cells divide again. 4 Gamete cells
Now the Chromatids separate
Identical to each other and to the parent cell DIPLOID CELLS 2n = 4

NOT identical to each other, nor to parent cell HAPLOID CELLS n=2
Haploid means half the chromosome number. The chromosomes are not in pairs.
Slide 26
Chromosomes & Mendels Genes Chromosomes Contain DNA

Chemical analysis reveals that chromosomes are made of Deoxyribonucleic Acid (DNA for short) wrapped in proteins.
In 1902, two scientists independently noticed a similarity between the way that chromosomes behaved in meiosis, compared to how Mendels genes were inherited. Walter Sutton (USA) and Theodor Boveri (Germany) had both been studying meiosis using new staining techniques which made chromosomes more visible. Both were aware of Mendels discoveries, which had been re-discovered just 2 years before. Chromosomes During Meiosis
Begin in homologous pairs Pairs separate in meiosis Gametes have only 1 of each chromosome pair (haploid) At fertilisation, each gamete supplies one chromosome, so the zygote gets back to having paired chromosomes (Diploid)
Chromosomes
Mendels Genes
Two genes for each characteristic The 2 genes separate in gamete formation Gametes have only 1 of each gene pair At fertilisation, each gamete supplies one gene, so the offspring gets back to having two genes per characteristic
Part of a DNA molecule
We now know that DNA is a double helix-shaped molecule which carries a chemical code... it is a gene. Each chromosome contains 1000s of DNA molecules (wrapped in protein) each one specifying one of the organisms many hereditary traits.
The obvious similaries made it clear that the genes must be located on the chromosomes in the cell nucleus.
Slide 27
The Structure of DNA
Two Strands of Nucleotide Chains
Like many biological molecules, DNA is a polymer, made of many smaller units which are joined in long chains. The basic unit of DNA is a Nucleotide. (named for nucleus)
A NUCLEOTIDE Phosphate group Sugar (Deoxyribose)
A
Bases
T
A-T bonded T
C
Bases
G
C-G bonded G
Base molecule There are 4 different bases, so 4 nucleotides are in DNA
The 4 different bases are usually known just by the first letter of each name:
A Notice that the only base combinations are A-T and C-G T G
A C G T
Adenine Cytosine Guanine Thymine
One Nucleotide
DNA molecules are composed of 2 strands of nucleotides (one running upside-down compared to the other) which are joined by the bonding between base molecules.
Finally, the entire molecule is corkscrewed into a double helix, like a spiral staircase or ladder.
Sugars & phosphates are the side rails Bases are the steps of a ladder
Slide 28
In humans, and in many other species, sex is determined by a special pair of chromosomes... the sex chromosomes. In a normal human body cell there are 46 chromosomes arranged in 23 homologous pairs. Of these, 22 pairs are called autosomes and are the same size and shape in males as in females. The 23rd pair are the sex chromosomes:
What Determines Sex?
Female
A womans 23rd pair are a matching pair of large, X-shaped chromosomes. This is referred to as XX.
XX
Xy
Male
A mans 23rd pair do not match. He has one large X chromosome, but its partner is a small, stubby chromosome called y. He is Xy.
When she produces eggs by meiosis, each egg gets one of each pair, so every egg carries a single Eggs X chromosome.
X X
Meiosis
X X
Sperm cells
When he makes sperm cells by meiosis, half of them will carry an X, the other half will have a y-chromosome.
Father Mother x
gametes
y X y
Xy X&y X X y XX Xy
XX X&X X XX Xy Girls Boys
How these chromosomes are passed on to children can be shown using the Punnett Square diagram to track, not genes, but the sex chromosomes: Notice that females can only pass on an X chromosome in their eggs. Males sperm cells can either carry an X or a y. Which type of sperm fertilises the egg determines the sex of the baby.
Phenotypes of Offspring Girls : Boys 1:1 50% : 50%
Slide 29
Activity 4
Chromosomes & DNA
Student Name .................................
1. Answer each part with mitosis or meiosis or both. In which cell division: a) are all the chromosomes duplicated before division starts? b) do the chromosomes line up in homologous pairs? c) are there 2 identical daughter cells produced? d) does the spindle pull identical chromatids apart, at some stage? e) does the nuclear membrane dissolve and later re-form? f) do chromosomes line up in a single line? g) are there 4 different daughter cells produced? 2. a) What is the basic chemical unit of a DNA molecule? b) This unit has 3 parts. Name them. 3. a) What is the human diploid number? b) How many of the chromosomes in a human body cell are autosomes? c) What is a haploid cell. Give TWO examples of cells which are haploid. d) How many chromosomes in a human gamete? e) Which parent determines the sex of a human baby?
Slide 30
Non-Mendelian Inheritance
Gregor Mendel discovered the basics of Genetics, but it was found early in the 20th century that genes dont always work in that simple Mendelian fashion. Morgan produced hundreds of flies in the experiment so, like Mendel, his results were statistically significant.
Thomas Morgan began experimenting with Drosophila fruit flies and quickly found they were ideal for genetics experiments. In 1910, in an experiment involving flies with different eye colours, Morgan realised that the way this characteristic was being inherited depended on the sex of the fly... males and females were inheriting eye colour differently.
The Explanation: The genes for eye colour are carried on the X chromosome. The dominant (Red) gene can be designated as XR. The recessive (White) gene is Xr The male y chromosome does NOT carry one of these alleles at all.
The possible female (XX) genotypes & phenotypes are: XRXR Red eye female (homozygous) XRXr Red eye female (heterozygous) XrXr White eye female The possible male (Xy) genotypes & phenotypes are: XRy Red eye male Xry White eye male Note that females get 2 genes, but males only get one because their y chromosome lacks this allele totally. A male cannot be heterozygous for this trait and cannot have a hidden recessive gene. WHEN DOING PUNNETT SQUARES WITH SEX-LINKAGE, YOU MUST TRACK THE X AND y CHROMOSOMES... see next slide.
Sex-Linkage Inheritance
The common and normal eye colour in the flies is red. Morgan discovered a male fly with white eyes. He set out to do a Mendel-type breeding experiment: PARENTS
White-eyed e Male X Red-eyed e Female
F1 generation All have red eyes. Morgan concluded (correctly) Red is DOMINANT, White RECESSIVE F2 generation Females 100% red eyed.
F1 flies were allowed to mate among themselves
Males 50%: 50%
Whats going on?

Slide 31
Morganss Sex-Linkage Experiment (continued...)

Here is the experiment explained by Punnett Square. Then, the F1 generation were allowed to breed among themselves. Notice that the F1 females are all heterozygous red eyed ( XRXr ) and the males are all red eyed ( XRy ).
F1
The F1 are all red-eyed. e Note that females are all heterozygous.
Xry Xr & y
x
gametes
XRXR XR & XR XR XRXr XRy
XR Xr y XRXr XRy
F2
The F2 are red : white 3:1 just like Mendels results, but the sexes are different.
XRy XR & y
x
gametes
XRXr XR & Xr Xr XRXr Xry
XR XR y XRXR XRy
Phenotypes of Offspring (both sexes) Red : White 100% : 0
There are a number of genes in humans that are sex-linked. The best-known are 2 genetic disorders:
Phenotypes of Offspring FEMALES MALES Red : White Red : White 100% : 0 50% : 50%
Red-Green Colour Blindness, is where a person cannot distinguish between certain colours. Haemophilia, is a condition in which the blood does not clot properly, putting the person at constant risk of internal bleeding. It was always a fatal condition, but in modern times people with haemophilia are treated with clotting factors from donated blood. Both conditions are sex-linked, inherited as recessive genes on the X chromosome. They occur much more often in males than females.
Slide 32
Inheritance by Co-Dominance
Another example of Non-Mendelian Inheritance is known as Co-Dominance. This is a fairly common situation in which the 2 alleles for a characteristic do not show a Dominant-Recessive pattern, but when both genes are present (heterzygous) they are both expressed, and may result in an in-between phenotype. Here is what happens in a Mendel-type cross:
PARENTS
RR X WW
Example: In Shorthorn cattle, there is gene (R) that causes the hair of the animals coat to be red (actually a rustybrown colour). To be red, the animal must be homozygous for this gene. Genotype RR
gametes: R only
W only
The other allelic gene (W) causes the coat to be white, if the animal is homozygous. Genotype WW
RW
RW
RW
RW
F1 100% Roan gametes: R or W

F1 breed among themselves
If an animal is heterozygous, with both alleles present, neither gene dominates the other. Both genes are expressed, producing mottled patterns of red and white hair which Genotype RW is called roan. Note that it is best to use 2 different CAPITAL letters as symbols in this case, since neither gene is recessive.
RR
RW
RW
WW
F2 Phenotypes:
RED : ROAN : WHITE 1 : 2 : 1 25% : 50% : 25%
Try to verify the F2 result by using a Punnett Square.

Slide 33
The Effect of Environment

Its not just an organisms genes that produce its phenotype; the environment has an effect as well. In Hydrangea plants, if cuttings are taken from a single individual (the cuttings would be genetically identical) and grown in different soils, the flowers on each cutting can be different colours. If the soil is slightly acidic the flowers will be blue, but in slightly basic soil theyll be pink. Identical twins have inherited exactly the same genes. In the USA about 40 years ago, a famous study was done on identical twins who had been adopted into separate families and raised in different environments. The study found quite large differences between the twins in intelligence, personality, and even appearance. The conclusion was that these differences were due to different foods, education, etc.
For example, consider some of Mendels pea plants with different genes for stem height.
IN GOOD SOIL Genotype TT Phenotype TALL Genotype tt Phenotype DWARF
Now, imagine planting them (as baby seedlings) in very poor soil, so that normal growth was not possible. IN POOR SOIL
Genotype TT Genotype tt Phenotype DWARF Phenotype DWARF
The point is that the genes may control what the organism COULD grow up to be, but the environment may influence this, possibly altering the final appearance (phenotype).
Slide 34
A key aspect of Evolution is the genetic diversity, or variation, within a species. It is those variations that Natural Selection works on. Where does variation come from?
Genetics, Sex and Evolution
Variation Caused by Meiosis

The process of meiosis to produce the sperm and egg cells increases variation, even before fertilisation occurs.
Crossing-Over
During meiosis homologous chromosomes also swap pieces of chromatid with each other, further mixing up the possible gene combinations:
GAMETE FORMATION WITHOUT CROSSING-OVER O
A B A B a b b a MEIOSIS
Random Separation of Homologous Pairs

Study the previous diagram of meiosis. Remember that homologous chromosomes are NOT identical. Each pair of homologous chromosomes line up and separate at random, and independently of all other pairs, so the number of different possible gametes is very large. In humans, with 23 pairs of chromosomes, it is possible for meiosis to produce about 8 million different combinations of chromosomes in the gametes of each person!
Possible gene combinations in gametes AB or ab
Remember, each gamete gets just one of these 4 chromatids
WITH CROSSING-OVER O
A B a A a b b MEIOSIS
Possible gene combinations in gametes AB aB Ab ab
Variation Caused by Sexual Reproduction

The simple fact that sexual reproduction involves TWO parents, creates a lot of variation. The offspring receives genes from 2 different individuals, thereby getting a new mix of traits.
These chromosomes have exchanged pieces of chromatid with each other. This has mixed up the combinations of genes A, a, B and b.
Summary Meiosis creates variations in the way homologous chromosomes separate, AND in the process of Crossing-Over. Further variation comes from combining genes from 2 parents.
Slide 35
Activity 5
More on Genetics
1. a) What is sex-linked inheritance? Your answer must describe how it is different to mendelian inheritance. b) Give an example of a sex-linked trait in humans. c) On which chromosome are sex-linked genes carried?
Student Name .................................
2. In a species of plant, the flowers can be red or white. However, if a redflowering plant is crossed with a white-flowering plant, the seeds grow into plants which have pink flowers. a) What type of inheritance is operating? b) Can you have a pure-breeding pink-flower type in this species? Explain your answer by suggesting the outcome of self-pollinating a pink-flowering plant.
3. In another species of plant the flowers can be either pink or blue. In this case, pure-breeding blue flowers are a proven possibility. However, if lime is added to the soil, a blue-flowering plant begins to produce pink flowers. What sort of inheritance is this?
Slide 36
4. MOLECULAR GENETICS & MUTATION

Then a young American, James Watson, who was interested in understanding the DNA mystery, visited the Wilkins-Franklin laboratory. With their collaboration, he took their data to Crick for his expert interpretation. Between them, Watson and Crick made one of the most notable scientific breakthroughs in the history of Biology... they figured out the basepairing, double-helix structure of DNA and realised immediately how this structure could lend itself to replication... an essential feature of a gene.
Double-stranded Helix s
How DNA Structure Was Discovered

By the middle of the 20th century it was suspected that DNA was probably the genetic chemical and it was known that it contained sugar, phosphate and the 4 bases A,C,G and T. What no-one could understand was, if DNA was the genes, how could it: Replicate (duplicate) itself for cell division? Control the phenotype of an organism? It seemed likely that the key to this problem was to find out the structure of the DNA molecule. The story of what happened is a classic example of how Science and scientists make progress using collaboration and communication. In 1953, English scientist Francis Crick had become an expert at interpreting the shapes of molecules using the new technique of X-ray Diffraction. Meanwhile, at another laboratory, Maurice Wilkins (New Zealand) managed to prepare a pure crystal of DNA, and Rosalind Franklin (England) was able to get an X-Ray Diffraction image of it, but neither understood how to make any sense of the pattern it produced.
Pairs of Bases
Sugar & phosphate chains
No one of these scientists could have made progress alone. Each had certain data, or skills or expertise, but only by bringing it all together was the great discovery possible. Success came from different people communicating and unselfishly sharing their knowledge and talents.
Slide 37
So how does the structure of the DNA molecule lend itself to replication?
DNA Replication
DNA REPLICATION
Molecule is untwisted and unzipped by enzymes
GC TA CG CG C AT G A G C C T
Nucleotides match up with complementary base on original strand. Enzymes connect them in place, forming a new strand.
Original, doublestranded DNA

Spare nucleotides
The key is the way the complementary bases bond together in the double stranded structure. This means that if you have ONE STRAND of a DNA molecule it is a mirror-image template for the other. If you split a DNA molecule into 2 separate strands, each strand can be used to build a new, complementary strand. Thats exactly what happens to all the DNA in each chromosome, before a cell division occurs.
sugar-phosphate side rail p Bases A T G C T A C G C G A T A C T A A T G C C G G C A T T A C G G C
old strand New strand
G G A T A T GC CG GC A T T A CG GC
When completed, each new DNA molecule is twisted back into a doublehelix shape.
G T A
C G A
T T C
G A T
The only combinations that will bond are A-T T and C-G G
Each DNA molecule (a gene) must be replicated before any cell division.
Slide 38
TWO IDENTICAL DNA MOLECULES
How Can DNA Control a Phenotype?
Protein Functions
Proteins have many functions within an organism: Enzymes are all protein molecules Structural Molecules, such as in muscle fibres, skin, hair and bone matrix are proteins. Many Special Molecules are proteins, such as haemoglobin, (the oxygen carrier in blood) chlorophyll (absorbs light for photosynthesis) antibodies (which help fight disease) ... and many more. In every case, it is the shape of the protein molecule which is essential to its correct functioning.
To answer this question, you need to be reminded about the structure, and the role, of proteins.
Protein Structure
has been covered briefly in previous topics. Heres a quick revision:
PROTEINS are polymers of Amino Acids. Amino Acid molecules
a Polypeptide chain may contain 1000s of amino acids
Protein with precise 3-D shape D
A Polypeptide is NOT a protein until it folds and twists into a final, 3-D shape. D Sometimes, several polypeptides join together to form the final protein molecule
Enzymes can only connect to their substrate if their shape is right. Haemoglobin can only pick up oxygen if the shape is correct... and so on. Proteins carry out many vital functions.
The exact shape of the final protein depends on the sequence of the amino acids in the polypeptide chain. There are about 20 different amino acids, and some of them are attracted to (or repelled from) each other, so how the chain twists and folds upon itself depends on exactly which ones are located where.
Correct functioning depends on the sequence of amino acids in the polypeptide chain. IT IS THE DNA WHICH CONTROLS THE AMINO ACID SEQUENCE.
Slide 39
DNA and Protein Synthesis
The sequence of bases in the DNA molecule is a code. Each 3 bases are a code word (called a Codon) which specifies an amino acid to go into the polypeptide chain.
DNA Strand Bases T A C T G G C A T C A A 3-base b Codon specifies an amino acid Amino Acids forming a Polypeptide
Changing Definitions of a Gene

When studying Genetics at the organism level: a gene = the hereditary unit which determines one trait in the organisms phenotype. Then, in the 1940s, two American scientists, George Beadle and Edward Tatum discovered the connection of genes to proteins. Studying a genetic defect in a common fungus, they found that Normal Chemical Pathway in Fungi Cells there were 3 Enzyme 3 Enzyme 1 Enzyme 2 S Q R different genes that P could produce the P,Q,R and S are cell chemicals. If any reaction is same defective blocked, then S cannot be made, and the phenotype. organism has a chemical defect Beadle and Tatum realised that each enzyme 1,2 & 3 must have a separate gene. The phenotype S-defect could be produced by a defect to the gene for enzyme 1, or the gene for enzyme 2, or the gene for enzyme 3. So, the new definition for a gene became: gene = a unit of heredity that specifies a protein But now that we know about DNA, and that some proteins require more than one polypeptide chain...
If a polypeptide containing 1,000 amino acids is needed, then a DNA molecule made up of 3,000 nucleotide bases, will be the gene for this polypeptide. Only one strand of the double-helix of DNA is the gene. The other mirror-image strand is present only to allow the gene to be replicated for cell divisions. How the DNA base sequence makes a functioning protein which then produces a phenotype is explained by a simple model in the next 2 slides.
A Gene is a DNA molecule which specifies one polypeptide

Slide 40
How DNA Causes a Phenotype

Part 1. From DNA to Polypeptide
This step is called TRANSLATION
(DNA code is transcribed to m-RNA code) R
The first step is called TRANSCRIPTION

This occurs in the nucleus.
DNA
Each 3-base codon b in m-RNA R specifies one amino acid in the polypeptide chain.
(The code is translated into an amino acid chain) Amino Acids are carried into position by t-RNA R (Transfer RNA) molecules.
t-RNAs R Amino Acids
gr ow in g
m-RNA R
P by oly ad pep di ti tio de n ch of a Am in in o
RNA is a polymer of nucleotides, similar to DNA, but single strand only different sugar one different nucleotide
mfro RNA m m the ove nu s ou cle t to us ar ibo som e.
Ribosome enzymes connect the amino acids to form a polypeptide chain.

m-RNA R
Ac id s
One strand of the DNA (the gene) acts as a template for the production of a single-stranded s messenger RNA (m-RNA) R
Ribosome moves along m-RNA R
You should recall that the Ribosomes are the organelles responsible for protein synthesis in cells.
Slide 41
How DNA Causes a Phenotype

Perhaps its a structural protein, used to build muscle or skin Maybe it becomes a molecule of Haemoglobin, used to carry oxygen in the blood
Part 2. From Polypeptide to Phenotype

Once the polypeptide chain has been made...
The polypeptide chain twists and folds to form a protein
Possibly it is combined with other polypeptides or special chemical groups to form...
a functional PROTEIN molecule It could be a Hormone, which controls some aspect of Homeostasis
The colour of your eyes is a genetically determined phenotype. The coloured pigment is made by enzymes, which are proteins, coded in your DNA
Example: Eye Colour
Substrates
It could be an ENZYME, able to catalyse a chemical reaction
Enzyme
STARTING CHEMICALS (Substrates)
Enzyme catalyses reaction(s) to produce coloured pigment in cells of the iris of the eye
Product; a Coloured Pigment
Phenotype of eye colour is produced.
The gene(s) for eye colour are present in every cell of your body, but are only expressed in your iris cells. Similarly, the genes for liver functions are only expressed in your liver cells, and genes to make taste buds are only expressed in your tongue. What controls which genes are expressed is still unknown in most cases.
Slide 42
Activity 6
Molecular Genetics
Student Name .................................
1. a) Using the letters A,C,G & T, state all the base pair combinations possible within the DNA molecule. b) Why is it essential for DNA replication, that the DNA molecule is composed of two complementary (mirror-image) strands? 2. a) What (physically) is a DNA codon? b) What does each codon specify? c) What does one gene specify? 3. Briefly state or outline what happens: a) during the process called DNA Transcription. b) during Translation of a single gene. c) in the conversion of a polypeptide into a functional protein. d) when a protein causes an actual phenotype, such as eye-colour.
Slide 43
Mutation Evidence for Mutagenic Nature of Radiation

Controlled experiments have demonstrated that genetic changes can be induced in living things (eg plant seeds, fungi, fruit flies etc) by exposing them to doses of X-rays, or nuclear radiations. Medical records from Japan following the Atom Bomb attack on Hiroshima (1945) indicate a huge increase in genetic mutations among the people in the years following. Countries like Australia, with a sunny climate and outdoor lifestyle, have high rates of skin cancer. These cancers are believed to be due (at least in part) to the mutagenic properties of UV light.
In all organisms, cells divide all the time. Theres mitosis to make new cells for growth, and meiosis to make gametes for sexual reproduction. Whenever a cell is about to divide, the chromosomes are replicated and all the DNA they contain makes an exact copy of itself. But sometimes mistakes happen... Errors can occur in duplicating the DNA. Chromosomes get broken, then incorrectly repaired. Entire chromosome can be lost. Any accidental change to the genetic material is a Mutation.
Causes of Mutation
Some mutations do not have any clear cause... they are just accidents that happen. However, it is known that certain factors can increase the likelihood of mutations. These factors are called mutagens, and include: Higher Temperatures. Mutation rates are higher in hotter climates. Certain Chemicals, for example, some pesticides. Radiation, including X-rays, nuclear radiation and ultra-violet radiation from the Sun.
Slide 44
DNA Change Makes a New Gene
Original DNA Strand Bases T A C T G G C A 3-base b Codon specifies an amino acid
Change will occur here
You will see (below) that mutations can have many possible effects, ranging from absolutely nothing, to a new inheritable characteristic. How could a new characteristic happen? Imagine an accidental change to just 1 base in a DNA strand.
Blue original Enzyme Substrate Chemical Mutated Enzyme New Colour Pigment Pigment in iris
Amino Acids forming a Polypeptide Mutated DNA Strand Bases T A C T G G A A

Changed base
Original Phenotype (Blue eyes) Mutant Phenotype (new colour)
Just one amino acid being different may alter the way the polypeptide folds into its 3-D shape.
This could alter the shape of an enzyme molecule, so that instead of producing (say) Blue-Eye Phenotype, it produces a new colour pigment.
Mutation during Meiosis Affects a Gamete
Different Amino Acid
Effects of Mutation
It depends on what sort of cell the mutation occurs in.
Mutation during Mitosis Affects a Body Cell Cell might not be able to function properly. Cell dies. No effect on multicellular organism.
Gamete NOT involved in reproduction. No effect.
Gamete involved in fertilisation Mutation might cause malfunction in cell, which becomes cancerous. Organism seriously affected, but future generations are not.
Mutation might have no effect on cell.
Offspring might get new inheritable gene. New trait might be: detrimental; less chance to survive. an improvement; helps survival. neither good nor bad, just different. The mutation becomes a new variation to be t t o s i t inherited by future generations i y t t s Usage & copying is permitted according to the Site Licence Conditions only
Slide 45
Mutation and Evolution

Finally, Darwin & Wallaces Theory of Evolution is complete... 1. All organisms produce more offspring than can survive. 2. In every species there is variation. New traits originate from genetic mutation. Traits are mixed in new combinations by meiosis and sexual reproduction, producing greater variation. 3. Natural Selection chooses the survivors. 4. The Fittest individuals reproduce and pass on their characteristics as genes (DNA) inherited by the processes of Genetics. 5. Over generations, a species evolves, as the selected variations become more and more common.
Mutations occur at random in the DNA molecules and chromosomes. Most are detrimental to the cell in which they occur, but occasionally a mutation produces a new, inheritable trait in an offspring. Usually, new mutant genes are recessive alleles. Being recessive, they can be inherited through many generations without ever being visible in the population. Only when 2 heterozygous individuals mate and bring together a pair of recessive genes does the new phenotype actually appear. The new phenotype might be quite a trivial difference... slightly bigger ears slightly shorter toes a new colour pigment in the fur a slightly longer intestine ... and so on. However, it is such small differences that give the variation to a population for Natural Selection to work on.
Sexual Reproduction and Meiosis keep mixing the genes in new combinations, but the original source of variation is MUTATION.
Slide 46
The Rate of Evolution
Evidence for Punctuated Equilibrium

Many fossil sequences show the same species existing, apparently unchanged, for millions of years, then suddenly disappearing and being replaced by a different (but similar) species. Perhaps it rapidly evolved into the new species?
EVOLUTION by PUNCTUATED EQUILIBRIUM
STABLE AGAIN
Darwin always imagined that evolution was a very slow process, taking at least 100,000 generations over perhaps millions of years, for a species to change significantly. The fact that the fossils EVOLUTION by GRADUALISM showed significant change from one rock layer to the next was simply, in Darwins opinion, due to the patchiness of the fossil record, giving us just a glimpse here and there of the slow and steady changes going on.
SLOW, STEADY CHANGES OVER A VERY LONG TIME
Studies on living populations (eg snails in grasslands) show that if the environment changes suddenly (e.g. because of humans clearing the land) the species can respond with a very rapid genetic shift within a few generations. For short-lived species, this might be only a year or two.
NO CHANGE...
An alternative explanation was proposed in the 1970s. This idea, called Punctuated Equilibrium suggests that evolution does not occur in a slow and steady way, but in short, sharp bursts of rapid change, in between long periods of little or no change at all. It is suggested that a species might change significantly within just a few thousand years rather than millions.
...THEN A RAPID BURST OF CHANGES
This does not prove that a new species can evolve quickly, but lends support to the idea of rapid change. Perhaps evolution can occur by both methods. The debate continues...
Slide 47
Activity 7
Mutation & Evolution
Student Name .................................
1. Define mutation and state 3 mutagens which are known to increase the occurrence of mutation.
2. Outline how the change of just one base in a DNA molecule could cause a new phenotype to occur.
3. Mutations occur frequently, but much less frequently do they have any effect in an evolutionary sense. Why is that?
4. Outline the differences between the gradualism model of evolution and the Punctuated Equilibrium model.
Slide 48
5. REPRODUCTIVE TECHNOLOGIES & GENETIC DIVERSITY Artificial Insemination (A.I.)

Semen can be collected from a champion bull, divided up into many small samples and frozen. Distributed anywhere in the world, it can be used to fertilise many cows. Thus a top-quality bull can become the father of thousands of calves, thereby improving the quality of cattle herds all over the world. This works too, for racehorses, dogs, sheep and so on. There are huge advantages, such as entire herds of highquality beef cattle, but there may be disadvantages too. (Discussed later) Humans use A.I. for their own reproduction too. If a man is sterile, but he and his wife wish to have children, she can be inseminated with semen from an anonymous donor. There are sperm banks of frozen semen for this use. No-one has seriously suggested using this to improve the human race... this would be an ethical & moral issue.
Reproductive Technologies
Humans have developed a number of techniques for controlling or enhancing the reproduction of crop plants, domesticated animals, and even ourselves.
Artificial Pollination
This is the oldest and simplest reproductive technique. Gregor Mendel used this to control the reproduction of his pea plants, and it had been used for centuries before that. Very simply, it involves taking pollen from one (selected) plant and dusting it onto the flower of the other (selected) parent. This gives complete control over which plants become the parents of the next generation. In modern agriculture, almost all of our cereals, fruits and vegetables are now the result of artificial pollination. New types are created by artificial pollination using different varieties or even different species. Such cross-breeds are called Hybrids. For example, the nectarine is a hybrid of peach and a plum. Once commercially important varieties are created, huge numbers of seeds are produced, again by artificial pollination of selected parent plants. This results in millions of almost identical plants being grown in crop monocultures. Commercially it has many advantages, such as great consistency in growth rates and food quality. Later, we will discuss possible disadvantages.
Slide 49
Cloning
HOW TO CLONE A MAMMAL

PARENT of CLONE EGG DONOR
A clone is a group of organisms which are all genetically identical. The simplest form of cloning is asexual reproduction, which has been done artificially with plants for thousands of years. Every time a plant is grown from a cutting, or by grafting, a clone is being created. Farmers and gardeners have been doing this for thousands of years. More recently, the process of Tissue Culture has allowed plant cloning on a massive scale. This involves taking thousands of small pieces of tissue (each perhaps just a few cells) from a parent plant and culturing them in a nutrient liquid in a test tube in the laboratory. Eventually they grow large enough to be planted out into soil to grow to be adult plants. This allows a clone of many thousands to be grown from just one parent plant. Cloning of animals is much more difficult and the first mammal clone was not achieved until the 1990s with the famous Dolly the sheep.
KCiC Bio 6 Blueprint of Life copyright 2009 keep it simple science www.keepitsimplescience.com.au Body Cell Unfertilised Egg
Diploid Nucleus Extracted
Nucleus removed
Diploid Nucleus from body cell placed into Egg Cell
Surrogate Mother
Fertilised egg electrically stimulated to begin dividing, then placed in uterus
Normal pregnancy and birth
The baby lamb is genetically identical to the single parent at top left. It is an identical twin, except younger Usage & copying is permitted according to the Site Licence Conditions only
Slide 50
Reproductive Technologies & Genetic Diversity
Too much of the same?
Artificial Pollination, A.I. and cloning all have the potential to diminish the Genetic Diversity of the species involved. All these processes, if used on a large scale, result in many offspring being produced from just a few, or even just one, parent. This means that all these offspring are closely related to each other and have less genetic diversity.
Already, many of our food crops, such as wheat and rice, are monocultures of millions of individual plants who are siblings from relatively few parents. In a banana The Irish Potato Famine plantation, the entire population may be a clone of In Ireland in the 19th century, thousands of poor families lived by genetically identical plants grown from cuttings and subsistence farming on rented fields barely large enough to grow suckers (asexual runners) from a single parent. food for a family. Among farm animals such as beef cattle, the They relied totally on potatoes, the only crop which grew well in the climate and produced enough food to live on. widespread use of A.I. to improve herds has also lessened the genetic diversity of those herds. Almost every field was planted with the same variety of high-yield There are many benefits to this, but there may be serious consequences too. Remember that genetic diversity (variation) is essential for the long-term survival and evolution of a species. If a species has little variation, then any change in the environment (eg a new disease, climate change) might adversely affect ALL the population, and leave no survivors.
Our food crops and animals have been bred selectively for high productivity. This has also resulted in low genetic variation. Is this a disaster waiting to happen?
potato. The plants were grown from seed-potatoes saved from the best plants of the previous years crop. This was asexual reproduction, so there was little genetic variety, and everyone was growing the same crop! In 1847, a fungal disease struck. Its spores spread on the breeze and it destroyed a crop field within days of infection. This Potato Blight totally destroyed the crops for 3 successive years until different, resistant varieties were slowly introduced. By then, an estimated 1 million people had starved to death. Millions more fled Ireland, settling in USA, Canada and Australia.
Slide 51
Transgenic Species
As well as reproductive technologies, humans are altering the gene pools of species in another way...
Genetic Engineering technology is able

to transfer one or more genes from one species to another to form Transgenic Species. Some examples: Gene Transfer
Human gene for Insulin hormone inserted into bacteria
Ethical Issues Concerning Genetic Engineering

Reproductive technologies, such as Genetic Engineering and Transgenic Species cause some scientific concerns about loss of genetic diversity. However, the main concerns tend to be ethical issues raised by society. You need to be aware of the issues and prepared to form your own, informed opinion... there is no single correct answer. Weigh up the benefits (some were listed on previous slide) against the concerns some people raise... transferring genes, especially human genes, into other species is unnatural, and wrong religiously and morally. foods from transgenic species may have unforseen consequences for human health, such as inceases in cancer. No-one has the right to expose us all to unknown risks. under current law, the companies who develop transgenic species own patents on them, and are making huge profits by forcing farmers to use their products or sell-out. This is seen as unethical, putting profit before people.
Slide 52
Purpose / Benefits
Bacteria produce insulin (to treat diabetic patients) in great quantity.
Human genes for bloodSheep can be milked and blood clotting factors inserted factors extracted to treat into sheep, which produce patients suffering Haemophilia. blood factors in their milk. Strawberry plants have Allows strawberries to be received a gene from a grown in colder areas not fish, which allows them previously possible. to resist freezing better. Crop plants have received a gene from the Pyrethrum plant which causes the crops to produce a natural insecticide chemical. Crops do not need to be sprayed with insecticides to control insect pests... any insect which eats the crop will die.
How Genes are Transferred

The exact mechanism of transfer of genes for Genetic Engineering depends on the species.
Human Insulin
Type I Diabetes is a killer disease in which a persons pancreas stops making the hormone insulin. Without insulin their cells cannot absorb glucose and they lapse into a coma and die. Early treatments relied on extracting insulin from animals at an abbatoir, but there were many side-effects and supplies were uncertain.
Firstly, the gene to be transferred from the source species needs to be isolated. This is often achieved by collecting DNA from cells of this species and chopping it into fragments using restriction enzymes from bacteria. These enzymes have the ability to cut DNA into sections. It often takes a lot of trial-anderror to then locate a fragment of the chopped-up DNA containing the desired gene. The desired fragment can then be incorporated into the DNA of the target species by several possible methods. In some cases the DNA fragment can be injected into an egg of the target species. The DNA becomes incorporated into a chromosome and is an inherited gene from that point on. Some viruses quite naturally transfer pieces of DNA from one cell to another. These can be enlisted as vectors to carry DNA to the target cells. The DNA fragment is inserted into a harmless virus. Then when the virus is allowed to infect a target cell, the DNA fragment becomes incorporated into its chromosomes. In the case of transferring human genes into bacteria, the same restriction enzyme is used to chop-up both the human DNA, and the bacterial Plasmid... a bacterial chromosome. Since both were cut by the same enzyme, the fragments match-up, and can readily join together when mixed in the presence of suitable enzymes. This technique has been in use for about 40 years, notably to produce pure human insulin for treating diabetics.
Recombinant DNA Technology now supplies pure human insulin.

Human DNA, extracted from a human cell Circular bacterial DNA extracted from a bacterial cell
chemically chopped-up u into fragments
chemically cut open
Mixed together
Some human DNA fragments recombine with the bacterial DNA.
DNA re-inserted into i bacterial cells. If the recombinant DNA contains the gene for insulin, the growing bacteria will make human insulin . These cells can be isolated and grown in huge numbers. They produce human insulin which can be collected for the treatment of diabetes.
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keep it simple science

keep it simple science Key Concepts in Colour HSC Biology Topic 2

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HSC Biology Topic 2

Part of a DNA molecule

Technologies and Genetic Engineering.

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Evidence for Evoltion

Chromosomes, Genes & DNA Meiosis

3. Chromosomes & DNA

Sex-Linkage & Co-Dominance

5. Reproductive Technology & Genetic Diversity

4. Molecular Genetics & Mutation

DNA Replication, Transcription & Translation

Mutation Mutation & Evolution

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(The Study of Fossils)

These fossils correlate to each other.

Simple types Less variety Less like present-day life d

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Fossils of Transitional Forms

(Archae= ancient, pteryx= wing)

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New Technologies Change Our Ideas About Evolutionary Relationships

Based on body structure

Stand by for more revelations as DNA analysis reveals more!

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Evidence for Evolution

Student Name .................................

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The Darwin-Wallace Theory of Evolution

2. In every species there is variation among the individuals.

1. All organisms produce more offspring than can possibly survive.

3. Nature selects which individuals survive.

5. Over generations, the species changes... It Evolves.

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How Evolution Works

What Factors Help Survival?

Then, the climate changes...

winters get colder

Many die in the harsh winters

Squat survives Survivors breed over many generations

Survival of the Fittest

Eventually it changes so much that it becomes a different species.

The Species has Evolved.

Effects of Changing Conditions

A Change in the Physical Environment

Lighter-coloured c moths survive and breed in greater numbers

Predators spot the black moths more easily

Population ratio. The black form is rare.

Black moths survive and breed in greater numbers

Predators spot the lighter moths more easily

Population ratio. The lighter form is rare.

A Change in the Chemical Conditions of the Environment

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Natural Selection and Competition

New competitor enters ecosystem

However, this is not the only possible outcome.