Blueprint of Life Theory notes: (Dot point 1) Outline the impact of: changes in physical conditions/chemical conditions of the

e environment on the evolution of plants and animals. Some organisms have characteristics, which are better suited to the environment than others. Changes in the environment select characteristics, which will enable these organisms to survive.

Physical: - Physical change will cause species to either die out, or survive and diversify. - For example: The peppered moth in England. (Also a modern Eg of natural selection). Variation existed in the population of moths in Europe. Prior to the Industrial revolution, lighter coloured moths with a peppered appearance were dominant to black coloured moths as they could easily camouflage against the lichen covered trees. This ensured that they were less visible to predators (birds). They survived predation & passed on the favourable characteristic of camouflaging to offspring. After industrial revolution, pollution and black sooty deposits led to a darker appearance of the bark. The white moths could no longer camouflage, making them now easily seen and eaten by predators. The dark moth now had favourable characteristic of camouflaging, hence leading to its survival and passing on of favourable characteristic to offspring. The population thus evolved from dominantly white moths to majorly black moths. This, physical change (colour of bark) can affect the evolution of an organism. Chemical: Chemical changes in the environment act as selection pressures, which decide which organisms are the fittest. For example: Mosquitoes and DDT. DDT was first used to kill mosquitoes in low doses. In subsequent sprayings, these small doses became ineffective and needed to be increased. Few mosquitoes had a gene, which enabled them to be DDT resistant. These mosquitoes had survived and passed on this favourable characteristic to their offspring. The gene pool had transformed, changing from mainly DDT susceptible to dominantly DDT resistant, due to selection in DDT by the environment. Competition: Long-term competition can result in the elimination of a species, or the evolution of competing species to occupy differing niches (habitats). For example: The Dingo. The introduction of the dingo to Australian mainland increased competition for food for the Tasmanian tigers. Dingoes were more efficient predators due to their pack behaviours, leading to the endemic Tasmanian tiger to become extinct and for the dingo to dominate. Describe, using specific examples, how the theory of evolution is supported by: palaeontology, biogeography, comparative embryology, comparative anatomy and biochemistry.

Palaeontology: - Palaeontology is the study of fossils. Fossils are remains or traces of life forms that have been preserved.
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Fossils show that organisms began as simple and evolved to become more complex. This suggests a change over time, which is supporting evidence of evolution. For example: The horse. The first horse walked on 4- toed feet due to the presence of a forest environment. It had small molar teeth as it fed on soft leaves. The modern horse has a single toed foot as it lives on grassy plains and has large molar teeth as it feeds on tough grasses. Transitional fossils are organisms that show features of more than one group. They indicate the development of one group of fossils into another. For example: Archaeopteryx. The archaeopteryx was a small flying dinosaur. Indicates that birds evolved from early reptiles, as it possesses features of both reptiles & birds. Reptile features: Long tail, claws and teeth, solid bones, no keel. Bird features: wishbone, feathers, keel bone for attachment of flight muscles. For example: Lobe-fin-fish. The Lobe-fin-fish was a fish, which could drag itself on land & absorb oxygen from air. It suggests that fish evolved from amphibians, as the lobe fine fish shares amphibian/fish-like characteristics. Amphibian features: lobefins with bones, lungs. Fish features: Scales, streamlined body shape, gills and fins. Limitations of paleontological evidence include the fact that the fossil record is incomplete & a lack of representation of soft-bodied organisms. Biogeography: Biogeography is the study of the distribution of living things. It supports evolution, as evolution states that for a new species to arise, a group of organisms must become geographically isolated from the rest. For example: The distribution of Flightless birds (ratites). The distribution of species suggests that modern forms evolved from ancestral populations and radiated out into new environments. The present day distribution of flightless birds (ratites) suggests that these birds originated from a common ancestor on Gondwana. Different populations evolved on the isolated continents as they drifted apart, which resulted in the distribution of emus in Australia, Kiwis in New Zealand, Ostriches in South Africa etc., all of which share similarities hence suggesting a common ancestor. For example: Unique Australian flora and fauna. Australias unique flora and fauna is believed to have arisen as a result of the isolation of the continent from Gondwana. Australian organisms show similarities to those on other southern continents, hence suggesting that they may have had a common origin. Comparative anatomy:

Comparative anatomy is the study of differences and similarities in structure of different organisms. The common structures in these organisms are an indication of similar inherited characteristics from a common ancestor. For example: Pentadactyl limb. The Pentadactyl limb in vertebrates can vary in structure from organism to organism. It is a 5-digit limb and has a structure of bones that is found in vertebrates, which suggests a common ancestry, which supports evolution. Across different organisms, the Pentadactyl limb has the same basic plan/similar homologous structure but with modifications to serve different functions. The alteration of the limb suggests that divergent evolution from a common ancestor occurred, through exposure to differing selection pressures.
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This led to the production of flippers in the dolphin, wings in the bat, etc. For example: Xylem. Xylem is found in almost all plants. This suggests that these plants had a common ancestor. Comparative Embryology:

Is the comparison of the development stages of differing species. These similarities are sued to infer relationships between organisms. The embryos of many different vertebrates all have gill pouches at some stage of development, which suggests that these all vertebrates evolved from a common aquatic ancestor. Biochemistry: Study of chemicals in cells. All living organisms contain fundamentally similar structures & functions and contain similar organic compounds. Eg) DNA, RNA and proteins. This similar biochemistry is evidence of evolution from a common ancestor. For example: amino acid sequencing. Similarities in the base pairing sequencing of DNA strands have been analysed to show only 1.6% - 2.4 % of differences between the DNA of chimpanzees and humans. Humans and chimpanzees also show an identical sequence of amino acids in their haemoglobin and cytochrome C. This minute difference in base pairing and identical sequence of amino acids has shown that Humans and chimpanzees are closely related and have evolved form a common ancestor. Use available evidence to analyse, using a named example, how advances in technology have changed scientific thinking about evolutionary relationships. Before the introduction of amino acid sequencing & DNA hybridisation, Ernst Haeckl classified chimpanzees, orang-utans and gorillas into one family (pondigae) and humans in another (hominidae). This classification was made upon the basis of structural anatomy. Fossil based evidence then pointed out that Gorillas and Chimpanzees were more closely related to one another than they are to humans. In the 1960s, amino acid sequencing of Cytochrome C & haemoglobin revealed identical sequences in chimps and humans and one difference between them and gorillas. DNA hybridisation showed that Humans and chimps have the smallest difference in their DNA, where as DNA between humans and Gorillas show slightly more variation and orang-utans being most distantly related. Hence, the introduction of these technologies has led to a reformed scientific thinking on evolutionary relationships of primates as it led to the new classification of great apes and humans. Gorillas, Chimpanzees and Humans have been classified into hominidae family, with orang-utans being left in the pondigae family. Hence these new technologies have revolutionised classification systems. Analyse information from secondary sources on the historical development of theories of evolution and use available evidence to assess the social and political influences on these developments.

1750s: George Buffon proposed that organisms changed. He didnt suggest how but noted that the environment acted directly on the organisms. Late 1700s: Erasmus Darwin suggested all life came from a single source.
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1809: Lamarck suggests that evolution occurred by use and disuse of body parts and that characteristics acquired in ones lifetime are passed onto offspring. 1859: Darwin proposed the theory of evolution by natural selection supported by evidence from his 5-year voyage. Alfred Wallace independently came up with the same theory. 1900s: Darwins theory of evolution y natural selection is combined with the understanding of genetics, to produce a modern theory of evolution (Neo-Darwinism). Prior to the introduction and spread of the theory of evolution, creationism provided the basis of understanding of the natural world. The ideas conveyed by creationism, natural theology etc. delayed the progress of the theory of evolution, because people believed that living things were proof of Gods creation and that everything has remained fixed from the time of creation. Proposing the theory of evolution created mass social and political upheaval. Delayed progress of theory: Social: Cartoons were drawn to ridicule Darwin, hence making him a much-despised figure in society, hence further slowing down the progress of the theory. Since Darwins wife and friends were devoted Christians, he feared the impact of the theory on their relationships, hence delaying the announcement of his findings. Political: Traditionalists campaigned against the anti-biblical ideas of evolution. The church condemned evolution, which made it difficult for ideas to be debated. Several states in the USA banned the teaching of evolution which meant people lacked basic knowledge of the theory, hence delaying the progress of the theory further. Helped progress of the theory: Social: In the 18th century, new scientific discoveries began to pave the way for new ideas. Also, the Huxley-Wilberforce debate allowed further progress in the theory. Political: Ban was lifted and evolution was allowed to be taught in schools, hence allowing the theory of evolution to progress. Darwin was aware that his ideas would cause upheaval. He didnt publish his book the origin of species until 25 years later, as he felt more confident as Alfred Wallace came up with the same theory. Explain how Darwin-Wallaces theory of evolution by natural selection and isolation accounts for divergent evolution and convergent evolution. Natural selection states that those organisms that have characteristics which best suit them to their environment will survive, reproduce and pass on these characteristics to their offspring. For a new species to arise, a group of individuals must become geographically isolated from the rest. Within a population, differing gene mutations occur and hence different mutations arise. Different selection pressures bring about these mutations. Characteristics deemed favourable are passed onto offspring. Divergent Evolution: Divergent evolution (adaptive radiation) is evolving to become different to a common ancestor by changing, in terms of structure, from a common ancestor due to differing selection pressures in the environment.
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Organisms originate from a common ancestor, and are isolated into two different environments. Differing selection pressures in differing environments (isolation) operate and lead to different characteristics being favoured by natural selection and passed on to offspring. This results in different changes in the population, hence leading to divergence into differing species. Thus, natural selection and isolation accounts for divergent evolution. For example: Finches or flightless birds example from pg. 2. Darwin observed several species of finches on the Galapagos. He proposed that they reached the island as one population but then got isolated into different populations as the Galapagos began to drift apart. Depending on the type of food available, the finches developed variation in their beak shape. Convergent Evolution: Convergent evolution is the evolution of an organism to become similar to a distant species due to similar selection pressures in the environment. Distantly related species show similarities as a result of being exposed to similar selection pressures in similar environments. (Similar variations would be favoured by natural selection). The distantly related species evolve to become similar, hence, natural selection accounts for the similar structures that develop. For example: the flying squirrel in America and sugar glider in Australia. In both populations, those with skin flaps between limbs could glide quickly and escape predation. In both populations, those who had this feature survived and passed on this favourable characteristic, which led to similarities in flying squirrel and sugar glider, even though they are distantly related. For example: Fin and flipper structures in aquatic organisms. The fin and flipper structures in sharks (fish), dolphins and whales (mammals) and penguins (birds). The selection pressures in their environment produced fins or flippers and a streamlined body shape for rapid movement through water.

Describe the concept of punctuated equilibrium in evolution and how it differs to gradual process proposed by Darwin. Darwins theory of evolution by natural selection proposes that populations change slowly & gradually over long periods of time. We should, thus, expect to see a full evolutionary transition in the fossil record of any organism. However, this very rarely occurs. The fossil record suggests a sudden appearance of organisms and little change over millions of years only to become extinct. To better explain lifes history as observed in the fossil record, Gould and Eldridge proposed the theory of punctuated equilibrium. This theory states that evolution occurs in short bursts of rapid change, followed by long periods of stability in a population. This theory has helped us understand the incompletion of the fossil record. DOT POINT 2: Outline the experiments carried out by Gregor Mendel.

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Mendel experimented with garden peas, investigated their breeding patterns and determined the inheritance of characteristics (traits). He is known as the father of genetics. Genetics is the study of heredity. Heredity is the transfer of characteristic from one generation to the next. Pea plants were ideally suited as they could be grown quickly and efficiently. Before he began his experiments, he bred plants for 2 years to establish pure breeding (homozygous) lines which he then cross bred to study the inheritance of their characteristics. He crossed two of these pure breeding plants & then crossed their offspring, which produced a ratio of 3:1 (Dominant: recessive). He came up for the Law of segregation; An organisms characteristics are determined by factors that occur in pairs. In a gamete (sex cell) only one factor is present. During fertilisation, the factors pair up again to make up the genotype of the offspring. Describe the aspects of the experimental techniques used by Mendel that led to his success.

Reliability: Used very large sample sizes, making the effect of errors very insignificant. Repeated his experiments many times over a large number of characteristics, constantly producing similar results and ratios.

Validity: Changed only one variable at a time whilst al others were kept constant (he conducted all experiments in the green house), thereby reducing possibility of experimental error. He analysed his results mathematically, identified patterns and produced quantitative data to draw conclusions. (Also used for accuracy).

Accuracy: When cross-pollinating, he prevented errors from arising from accidental self-pollination by removing one sex organ from each plant (anther or stigma). He transferred the pollen manually by hand, ensuring that the offspring produced are from the intended cross. Before conducting self-fertilisation to get pure breeding lines, he ensured no accidental selfpollination by isolating the plants and covering them.

Outline the reasons why the importance of Mendels work was not recognised until sometime after it was published. Mendel was not a very well recognised scientist and had not been well known for any prior discoveries; hence, he lacked an established reputation and thus, his standing as a scientist may have been. He presented his ideas to a very small group of scientists. At the time, very little was known about cells, cell division and chromosomes. His findings appeared to be made on very little background knowledge. Scientists may have not fully understood Mendels findings as his use of mathematics differed radically from customary result reporting. Distinguish between the term allele and gene using examples.
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Alleles refer to alternative form of a gene, situated at the same position or locus on a pair of homologous chromosomes. Eg: In humans, allele for blue eyes is located on the same locus as the allele for brown eyes. Genes refer to a section of DNA on a chromosome that determines a particular characteristic & has a specific base sequence for making one polypeptide chain (part of a protein). Genes code for the characteristics of an organism and are passed from one generation to the next. Eg: In humans, eye colour or hair colour. Distinguish between homozygous and heterozygous genotype in monohybrid crosses.

Homozygous (pure-bred): the alleles carried on homologous chromosomes for a particular characteristic are the same. Eg: In peas, a homozygous tall plant would have a genotype TT. Heterozygous (hybrid): the alleles carried on homologous chromosomes for a particular characteristic are different. Eg: In peas, a carrier tall plant would have a genotype Tt. Explain the relationship between dominant and recessive alleles and phenotypes using examples. Phenotype refers to the physical appearance of an organism, determined by the genotype. Dominant alleles are those alleles, when present, are always expressed in an individuals phenotype. Eg: In pea plants. In pea plants, the genotype TT & the genotype Tt would both express a tall phenotype, since the tall allele is the dominant one and the short allele is recessive. Recessive alleles are those alleles, which are expressed only when in homozygous form. Eg: in pea plants. In pea plants, the only genotype, which will express a short phenotype, is tt. In this case, no dominant allele is present; hence, the recessive allele is shown in the physical appearance. Describe the outcome of monohybrid crosses involving simple dominance using Mendels explanations.

2 pure bred parents with different traits were crossed (i.e. one homozygous/pure-bred tall TT was crossed with one homozygous/pure-bred short tt). All offspring expressed dominant phenotype (they were all tall). When two hybrids breed (i.e. Tt x Tt (Tall), they produce an offspring of ratio tall: short, 3:1). So, 3 tall offspring are produced and 1 short offspring is produced. Mendel explained that the phenotype of an organism is determined by factors that occur in pairs. When a dominant allele is present, it will be expressed in the organisms phenotype. Recessive traits will only appear in the absence of dominant alleles/ when they are in homozygous form. Perform a first hand investigation to construct pedigrees, family trees, trace the inheritance of selected characteristics & discuss their current use. Pedigrees or family trees are used to show how characteristics are inherited form one generation to the next. They can be used to assess genotypes from phenotypes. They make it clear to visualise and establish relationships between data. Their uses include: Determine inheritance patterns to predict the likelihood of a family member inheriting a genetic disorder. To determine whether a chromosome is sex linked, dominant or recessive. They allow easy scientific analysis of inheritance of genetic traits & easily trace the inheritance of a particular characteristic. In animals, used to select desirable characteristics for breeding purposes.
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Dot Point 3: Explain the relationship between homozygous and heterozygous genotypes and the resulting phenotypes in examples of co dominance. Co-dominance is the genetic expression of both dominant alleles in which the resulting effect is not blending. In a heterozygote, both alleles are expressed in the phenotype, but not blended together. For example: the short horn cattle. When Homozygous, it may have a red or white coat colour (RR red, WW white). Heterozygous individuals have one allele for red and one for white (RW), thus, they have a roan appearance both red and white hairs are present, however are distinct from one another. Describe the inheritance of sex-linked genes & alleles that exhibit co dominance & explain why these do not produce simple Mendelian ratios. Mendel simplified his study of inheritance by studying only one pair of characteristics at a time (monohybrid crosses). He revealed a fairly predictable pattern for the inheritance of characteristics that he chose, however, some crosses do not give the expected Mendelian ratios. In Mendelian inheritance, a cross of two heterozygous will bring forth 1 offspring with a dominant, homozygous genotype, 1 with a homozygous recessive genotype and 2 with a heterozygous genotype. T t T t TT Tt Tt tt

In co-dominance, a cross of 2 heterozygous organisms will bring about 1 offspring will have a homozygous genotype for the co dominant traits, 2 will have a heterozygous genotype and one will have a homozygous phenotype, hence leading to the production of 3 differing phenotypes, and not 2 as we see in mendelian ratios. R R W RR RW W RW WW

In this case, both the R and W alleles are expressed, since co dominance is present, unlike in Mendelian inheritance. RR red, WW- white, RW- roan.

Sex Linkage: Sex chromosomes carry genes that determine the sexual characteristics of a person and thus, they influence whether theyre male of female. Females have sex chromosomes with genotype XX (2 x chromosomes) and males have sex chromosomes with genotype XY, whereby they Y chromosome is shorter. In every cell of the human body, 23 pairs of chromosomes exist. 22 of these are autosomes, which are non-sex chromosomes and code for non-sexual characteristics. 1 of these codes for the sex of the person.
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Because females have 2 X chromosomes, there is usually a second normal gene , which is dominant over the abnormal gene. It is rare that both alleles are abnormal/deficient. However, a deficiency in males on the X chromosome causes problems. This is due to the fact that the Y chromosome is shorter than the X chromosome. Hence, if a characteristic is coded for a gene on the X chromosome, there is no possibility of another dominant allele on the Y chromosome masking this, as it is non-existent because of the shortness in length of the Y chromosome. Therefore females are usually carriers of the defective gene.
Gene for Haemophilia, no normal gene on Y chromosome to dominate it.

Sex Linkage and variations from Mendelian ratios: In mendelian inheritance, when 2 heterozygotes breed, they produce a ratio of 3 offspring showing the dominant allele in their phenotype as opposed to one which shows the recessive trait. In sex linkage, there is no such thing as heterozygous males, since they have an XY chromosome to determine their sex. Hence alleles for some traits are missing due to the shortness in length of the Y chromosome. Eg: The gene that causes haemophilia is recessive & is located on the X chromosome. A child is born to a haemophilic father and a normal mother. What are the chances of the child having haemophilia? Note: h=haemophilic, H=normal. Father = , Mother= Y

As can be concluded from this punnet square, none of the offspring will be haemophilic. 2 normal males will be produced and 2 carrier females will be produced. However, if the gene that causes haemophilia was on the X chromosome of the mother and not on the fathers, the following would occur. Y

One haemophilic male would be produced, one normal male & one normal would be produced and one carrier female would be produced. In Mendelian inheritance, each organism has 2 factors for each trait and that these factors occur in pairs. However, this is not the case in men, as their Y chromosome is short and doesnt have 2 factors for each trait. Thus, a single X linked recessive allele has the same phenotypic effect to that of a dominant allele.
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In conclusion, the sex-linked traits present on the X chromosomes of males will appear in the phenotype of males. Mendelian inheritance. Sex linkage. The male may only have one factor, as the Y chromosome in males is short and lacks some of the genes present on the X. Genes that occur on the sex chromosomes will show inheritance patterns similar to the sex chromosomes on which they occur. Eg: Colour-blindness on the X chromosomes of a male is more likely to appear in the phenotype of males as there is no other gene on the Y chromosome to mask its effect. Any recessive genes on the X-chromosome in males will be expressed in the phenotype, as there is no equivalent dominant gene present.

All individuals have 2 factors for each characteristic. Factors are inherited as discrete units and are not dependant on whether they come from a male or female. When 2 hybrids breed, statistically will produce offspring of a ratio of 3:1 (dominant: recessive).

Describe the work of Morgan that lead to the understanding of sex linkage. Morgan studied crosses between red eyed and white-eyed fruit flies (Drosophila melanogaster). He bred these flies to study the inheritance of their characteristics. His experiments and results are the explanation for sex linked inheritance. He noticed one white-eyed male among the offspring of normal, red-eyed parents. He bred a white-eyed male with a red eye female and obtained 4 offspring, which made up the first generation, all with red eyes. He then allowed this generation to interbreed, and produce an offspring with ratio of 3 being red eyed to 1 being white eyed. All white-eyed flies were males. He then bred a white eyed male with a hybrid red eyed female. White eyed females then appeared. He then hypothesised that the gene for eye colour was located on the X chromosome and not on the Y chromosome. All genes on the X chromosome are said to be sex linked. Morgans work is significant because it has provided evidence for the chromosomal basis for sex linkage.

Explain the relationship between the structure and behaviour of chromosomes during meiosis and the inheritance of genes.

Chromosomes are made up of DNA. Genes are coded within DNA. Thus, when chromosomes replicate during meiosis, so do the genes. During meiosis, different pairs of homologous (paired maternal+paternal) chromosomes behave independently off of one another and segregate randomly into separate daughter cells. Random segregation occurs once in meiosis I and once in meiosis II. Crossing over is when the inner most chromatids of a homologous pair exchange segments of DNA and thus also exchange genes or alleles for a particular characteristic. This behaviour of chromosomes has a direct relationship between inheritance of genes as random segregation and crossing over result in different gene combinations of each gamete, which determines the genotype and phenotype of the offspring. Explain the role of gamete formation and sexual reproduction in the variability of offspring.
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Meiosis: Meiosis is a form of nuclear division involving a reduction of chromosomes from the diploid number of chromosomes (2n) to the haploid number (n). It leads to the production of 4 new gametes/sex cells. A single diploid cell gives rise to a haploid cell.

Gamete variability: -

formation and

Gametes form via meiosis, where the recombination of genetic material occurs and takes place as a result of crossing over and random segregation. In crossing over, the inner most chromatids of a homologous pair exchange segments of DNA and thus also exchange genes or alleles for a particular characteristic. The resulting combinations of genetic material differ from those originally on the parent chromosomes. In random segregation and independent assortment, genes on different chromosomes assort themselves independently, giving new gene combinations, different from the parents. This increases genetic variation. Random segregation produces different combinations of genes from different chromosomes, crossing over produces different combinations of genes on the same chromosome.

Sexual reproduction & variability: During fertilisation, two different gametes, each with a different genotype, randomly fuse together. From this, many differing genetic combinations are possible, hence, increasing genetic variation. The fact that the zygote inherits half the number of chromosomes from the male gamete and half from the female gamete makes it a genetically unique individual. It can never be identical to one parent.
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Outline the roles of Walter Sutton and Theodor Boveri in identifying the importance of chromosomes.

Theodor Boveri: Studied the behaviour of the cell nucleus and chromosomes during the fertilisation of sea urchins. He showed that a complete set of chromosome is fundamental to the normal development of an organism. When he fused 2 gametes with an egg missing its nucleus (meaning it only had half the number of chromosomes) & a sperm with its nucleus, the offspring was abnormal but resembled the male. He then concluded that a full set of chromosomes was needed for normal development. He then noticed that many factors exist on one chromosome and thus stated that each chromosome carries many factors on it, which determine the characteristics of an offspring.

Walter Sutton: Studied the behaviour of chromosomes during the meiosis of grasshopper cells. Sutton noticed that the chromosomes behaved much like factors of inheritance that Mendel had mentioned. He thus concluded that the factors must lie on the chromosomes. He therefore stated those chromosomes are the units of heredity/inheritance that determine the characteristics of an individual.

The fact that the zygote inherits half the number of chromosomes from the male gamete and half from the female gamete makes it a genetically unique individual. It can never be identical to one parent. Outline ways in which the environments may affect gene expression of a gene in an individual. The phenotype of an organism is not only determined by the genotype of an organism but also by the environment in which it lives. Genotype + environmental factors = phenotype. Environmental factors such as availability of food, water, nutrients, presence of poisonous substances all contributes to the phenotype of an organism. For example: Hydrangea plants and soil ph. The flower colour is controlled by pigments, which are influenced by soil ph. When the ph is low (acidic), the flower turns blue and when the ph is higher (basic) they will turn pink. The phenotypic expression is thus influenced by the environment (soil ph). For example: Siamese cats. Siamese cats, with homozygous mutant allele cc have dark pigmentation at the extremities of their bodies. These dark areas are those, which are areas of poorer circulation/ areas, which are cooler than others. This pigment is only produced at low temperatures and hence, the phenotypic expression is influenced by the environment (temperature of the environment). Describe the chemical nature of chromosomes and genes.
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Chromosomes: Each chromosome is made up of 60% protein and 40% DNA (deoxyribonucleic acid). This DNA is coiled around proteins called histones. DNA is a double stranded helical molecule, which is composed of subunits called nucleotides. Each nucleotide is made of a phosphate, a sugar (deoxyribose) and a nitrogenous base (Adenine, Thymine, Guanine, Cytosine). These bases are held together by hydrogen bonds. One nucleotide has been circled below. The blue circle represents a phosphate, the pentagon is a deoxyribose sugar, the two rectangles represent two bases (either A + T or G + C). DNA is parallel and runs in opposing directions as shown.

Genes: A gene is a section of DNA on a chromosome. It consists of a particular sequence of bases, in which genetic information is stored. Different genes have different base sequences. Identify DNA as a double stranded molecule twisted into a double helix with each strand comprised of a sugar-phosphate backbone and attaches to bases adenine, thymine, guanine, cytosine connected to a complementary base pairing A-T & G-C. DNA is a double stranded molecule twisted into a double helix. Each strand is made up of a phosphate, a deoxyribose sugar and nitrogenous bases held by hydrogen bonds. Nitrogenous base Adenine joins with Thymine, and Guanine joins Cytosine. No other pairing is possible because of their chemical structure. DOT POINT 4: Process: 1. 2. 3. 4. 5. The DNA double helix unwinds. An enzyme helicase causes the DNA to unwind. The DNA unzips, the weak hydrogen bonds between nitrogenous bases break apart. Nucleotides then separate, leading to the nitrogenous bases being exposed. Each separate strand acts as a template for the production of a new strand to be added. Free Nucleotides are picked up by enzyme polymerase and added to the single strand. Since Adenine can only pair with thymine and guanine with cytosine, the new strand will be the same as the original.
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Describe the process of DNA replication & explain its significance.

6. The DNA molecule is then re-winded into a double helix structure by enzyme ligase. The end result is two molecules of DNA, identical to the original.

Significance: 1. Heredity: - DNA must be able to make exact copies of itself so that during cell division, daughter cells have a full complement of DNA. - DNA replication ensures all daughter cells will have the exact same genetic material so that all new cells have the same genetic information from which the original cell arose, to ensure normal function of the body. 2. Gene expression: - Relies on protein synthesis. - Protein synthesis relies on the base sequence of the DNA. If an error is to occur during DNA replication, this will have a direct effect on the production of protein and hence on the phenotype of the individual since the protein will be dysfunctional/absent. - DNA replication ensures optimal functioning of an individual, as many of these proteins are enzymes, which catalyse metabolic reactions. Process information from secondary sources to describe & analyse the relative importance of the work of: James Watson, Francis Crick, Rosalind Franklin & Maurice Wilkins, in determining the structure of DNA & the impact of the quality of collaboration and communication on their scientific research.

James Watson & Francis Crick: An earlier scientist, Edwin Chargaff, worked with DNA and showed that ratio of A: T & G: C was 1:1. From this, Watson and crick suggested that DNA may be composed of 2 parallel strands held together by bases. They also used Rosalind Franklins photograph picture 51 which showed that DNA molecule had 2 strands joined together, the strands were being twisted into a double helix with constant diameter of 2 nm. They used cut out cardboard shapes to work out the possible chemical bonds between bases, sugars and phosphates in DNA. Their approach revolved much around trial and error. They assumed that the sugars and phosphates formed the backbone of DNA. They realized that if the small bases (cytosine and thymine) were paired opposite the larger bases (adenine and guanine), this would give a chain of constant diameter. When the complementary base pairs are
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arranged at a certain angle, hydrogen bonds form between them. They suggested that this pairing made a possible mechanism for DNA replication. They also figured that the strands were running in opposite directions (anti-parallel). Watson and Cricks collaboration began in 1951. Effective collaboration and communication led to the discovery of the structure of DNA.

Rosalind Franklin and Maurice Wilkins: Franklin provided the scientific evidence upon which Watson and Crick based their double helix model. She applied X-ray diffraction techniques and applied them to DNA fibres obtained by Wilkins to produce picture 51. Wilkins provided the image to Watson without the permission of Rosalind. Franklin and Wilkins had a very argumentative relationship & very rarely collaborated which slowed down their progress. If all 4 scientists had collaborated, the structure of DNA wouldve been determined much more quickly and efficiently. Explain the relationship between proteins & polypeptides. A polypeptide is composed of a long chain of amino acids joined by peptide bonds. Proteins are made up of polypeptide chains folded into a 3D globular shape to suit a specific function. Outline, using a simple model, the process by which DNA controls the production of polypeptides.

RNA is a nucleic acid, which is made up of nucleotides. It is different to DNA. RNA is single stranded, has a ribose sugar & nitrogenous base Uracil (U) instead of Thymine (T). DNA Sugar Bases Shape Length Deoxyribose A, T, C, G Double stranded helix Over a million nucleotides RNA Ribose A, C, G and Uracil instead of Thymine Single stranded 1000 maximum

Transcription (occurs in the nucleus): The synthesis of mRNA from DNA: The information contained in DNA is transcribed into a strand of messenger RNA (mRNA is used to carry instructions about polypeptide structure to the site of translation. SO basically, it carries the DNA in the nucleus to the ribosomes. Two DNA strands separate at a particular gene region, one strand acts as a template for the production of an mRNA strand as the RNA nucleotides pair up with the exposed bases of the DNA transcribing strand in a complementary way. The nucleotides join to form a strand of mRNA, which leaves the nucleus through the nuclear pore and enters the cytoplasm to the site of protein synthesis. The DNA strand then reforms.
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Translations: The synthesis of a polypeptide from mRNA: the information now contained in the sequences of mRNA bases is translated into a sequence of amino acids in a polypeptide. The mRNA binds to a ribosome. Sets of 3 bases on mRNA are called codons. tRNA molecules in the cytoplasm then carry a specific amino acid to the ribosome. tRNA molecules in the cytoplasm each carry a specific amino acid to the ribosome determined by their anticodons at one end of the tRNA. Starting at one end of the mRNA, a tRNA molecule attaches its complementary anticodon to the first codon of mRNA. A second tRNA molecule does the same. The 2 adjacent amino acids are joined together with a peptide bond. The first tRNA molecule is released and the ribosome moves one codon along the mRNA. This process is repeated until the polypeptide is complete and the ribosome reaches a stop codon, after which the polypeptide disassociates from the ribosome. NOTE: Thus amino acids are linked up in an order determined by the sequence of base triplets in mRNA that, was determined by the sequence of base triplets in the original DNA. Explain how mutations in DNA may lead to the generation of new alleles.

Mutations lead to alterations in genes by changing the nucleotide base sequence in DNA. A mutation may result in the formation of new proteins and hence the formation of a new allele. For evolutionary change to take place, a mutation must occur at the right time and must be beneficial to the organism. These mutations will only be passed on to other offspring if the occur in germ-line cells. (If they occur in body cells, they will only affect that organism). Although most mutations are harmful, some may be beneficial. E.g. there are two forms of sickle cell anaemia that are the result of mutations in DNA a fatal form in which RBCs cant carry sufficient oxygen around the body, and a mild form in which benefit of resistance to malaria is conveyed. Process information to construct a flow chart, which shows, that changes in DNA sequences can result in changes in cell activity.

DNA sequences can either be changed by base substitution (one base is substituted by the other) or by frame shift mutation (whereby on base is deleted). This is a mutation, which produces different polypeptides. These both may give rise to a dysfunctional protein or no protein at all. This alters cell activity.

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For example: Sickle cell anaemia via base substitution where the T base is substituted for an A base. This leads to an abnormal beta chain producing mutant haemoglobin (haemoglobin is made of two alpha and two beta chains). mutant strand
normal strand

mRNA
mRNA

(base sequence is also changed)

amino acids

amino acids (different amino acid(s) produced)

polypeptide

polypeptide (may produce dysfunctional protein, if at all, leading to a change in cell activity)

Analyse information from secondary sources to outline the evidence that lead to Beadle & Tatums one gene- one protein hypothesis & explain why this was altered to the one gene one polypeptide theory. Beadle and Tatum performed experiments on the growth of Bread mould (Neurospora crassa) & found that this mould would thrive on minimal medium that had sucrose, minerals and vitamin biotin. They reasoned that these substances were converted into mould, by amino acids and that enzymes were responsible for metabolism. They decided to investigate and began to expose pores of mould to X-rays to cause mutations. They then grew the spores to see if theyd develop normally. If the mould didnt grow, it w as discarded and if it did, then they grew it on a variety of media, each containing a differing amino acid. Once it was supplemented with a particular amino acid, it would grow, hence showing that this mutant form had lost the ability to produce this particular amino acid since they lacked a particular enzyme. From this, it was hypothesised that one single gene controls the production of a single enzyme. However, not all proteins are enzymes so they changed it to the one gene one protein hypothesis. This was later changed to the one gene one polypeptide theory, as genes code for many proteins that are not enzymes & many proteins are made of more than one polypeptide, with each gene, coding for a different polypeptide.

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Explain how an understanding of the source of variation in organisms has provided support for Darwins theory of evolution by natural selection. Darwin knew that variation was needed within a population for natural selection to occur. However he did not know the SOURCE of this variation. His theory was based on variation occurring by chance. We now know that variation comes about from: Crossing over of homologous chromosomes during meiosis. Independent assortment of chromosome pairs during meiosis. Random fusion of gametes during fertilisation. Mutations, which may give, rise to new alleles. The expression of these varying genotypes produces many phenotypes. Some phenotypes will allow organisms to survive & reproduce better than others. Overtime, Natural selection will operate to change the proportions of certain alleles in a population. Discuss evidence for the mutagenic nature of radiation. Radiation causes mutations. Studies of cancer have provided evidence for the mutagenic nature of radiation. IN 1926, Muller irradiated the reproductive cells of fruit flies. Those irradiated cells had a mutation incidence 150 x higher than those who were not irradiated (control). This provided direct evidence of the link between exposure to radiations and the occurrence of mutations. Marie Curie worked with ionising radiation for most of her career and due to overexposure to radioactive emissions she died of Leukaemia. Rosalind Franklin who worked with X-rays for a long time had also died, along with hundreds of radiologists, which had been documented as having died of cancers. In the mid 1920s, workers used paint containing radium & used to sharpen the tips of paintbrushes by moistening them between their lips. Many developed very serious illnesses and died. Alpha radiation had made its way to many organs in the body.

DOT POINT 5 Identify how the following reproductive techniques may alter the genetic composition of a population: artificial insemination, artificial pollination & cloning. With the use of selective breeding techniques, humans have been artificially able to create desired variations in the genetic composition of a population. Selective breeding involves selecting traits from populations and breeding animals of the highest quality to increase yield and quality of future generations of this species. Artificial pollination: Pollen from male anther is removed and dusted onto stigma of same flower or stigma of another flower. The advantage of this is that it is an inexpensive, simple way of breeding new varieties of plants. In the short term, it will increase genetic diversity. The disadvantage of this is that it may reduce genetic variation in the population as certain alleles may be lost from the gene pool.

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Artificial insemination: Involves taking a sperm of a desired male and artificially injecting it into a desirable female. The semen may be frozen and stored for long periods of time and then transported. The advantage of this is that freezing the sperm will overcome the problem of transporting animals over long distances, hence is cost effective and reduces risk of injury to animals during transit. Since the semen is frozen, the male can be dead and still produce offspring. I can also be used to increase the number of endangered species. The disadvantage of this is that too many offspring may arise from the same father leading to reduced genetic variability. Also, undesirable side effects may arise. Eg: When Friesian cows are crossed with jersey cows, some offspring have such large udders that they can barely walk. - Artificial insemination & artificial pollination, in the short term will lead to increase in genetic diversity as the same alleles are occurring very frequently in the gene pool. But, in the long term, the breeding of the same hybrid lines over and over again decreases genetic diversity. This is a disadvantage to the survival of a population if the environment experiences sudden change/ a disease enters. This may cause the population to become extinct. Cloning: Cloning is the production of an offspring that is genetically identical to the parent. In plants, techniques such as grafting and cutting and tissue culture have been used. Grafting and cutting a short section of a plant, immersing it in growth hormones then growing it will lead to the production of a genetic copy of the original plant. Tissue culture techniques include a section of a plant being pulverised in a blender to obtain individual plant cells, which are then grown on a nutrient medium & incubated under controlled conditions. Genetically identical plants are produced. In animals, a technique called somatic cell nuclear transfer is used to clone an animal. Eg: in cloning Dolly the sheep. 1. Culture the mammary tissue of an adult sheep. 2. Remove the nucleus of one of these cells and transfer to an enucleated egg cell (egg with nucleus removed). 3. A gentle electric pulse causes the cells to fuse. A second electric pulse triggers embryo formation and cell division. 4. Implant embryo in the female sheep where it will grow into a lamb. All of the cells were genetically identical to the sheep that provided the mammary tissue. Cloning produces genetically identical offspring. This means that they will all have the exact same DNA. The advantage of cloning includes the fact that identical plants will require identical nutrient and water requirements. They will mature at the same time as they have the same growth rates and they will produce the same yield. This makes harvesting methods much easier for farmers and benefits us in terms of increased food production. Also, desirable varieties, which produce higher quality/ greater yield, can be reproduced to ensure the farmer is making more financial gain. Cloning can also be used to increase numbers of an endangered species.
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The disadvantage of cloning is that the population will be susceptible to the same disease, pathogen or change in the environment due to lacking variation. This means that if sudden change/ disease occurs, the population is prone to extinction. Cloning is an expensive process & has also raised ethical questions about the possibility of cloning humans. The life expectancy of cloned animals is normally shorter.

Outline processes used to produce transgenic species & include examples of this process & reasons for its use. - A transgenic organism is an organism which has had its normal genome altered by the introduction of a gene into it in such a way that the organism can pass this gene on to its offspring. - Transgenic technology allows the gene for a desired characteristic to be transferred across species. - The process used to produce a transgenic species includes: 1. Using restriction enzymes cut a gene for a favourable characteristic. (CUT) 2. The gene is then cloned multiple copies of it are made. (COPY) 3. These cloned genes are then inserted into an egg cell of another species & after fertilisation become part of the organisms DNA. (PASTE). 4. The egg develops into a mature organism with the new gene switched on to function. 5. The transgenic species has been made. - For example: Human insulin. - Human insulin (used by diabetics to control blood sugar levels) is produced by cloning recombinant DNA. Steps: 1. The human insulin gene is located using a restriction enzyme that is used to cut it from the human chromosome. 2. The same enzyme is used to cut open a bacterial plasmid to obtain similar sticky ends. 3. The base sequence in the open space of the plasmid matches the ends of the piece of human DNA. 4. Both DNA sources are mixed so that the insulin gene is inserted into the plasmid by matching sticky ends. DNA ligase reinforces the bonds between them. 5. The plasmid is reinserted into bacterium and is cloned each time it reproduces, cloning the human insulin gene as well. 6. When given the required nutrients, the bacteria will produce human insulin. - This is useful as human material such as insulin can now be produced on a large scale by bacteria for use in medicine whereas before insulin was obtained from animals. - The advantage of this is that the bacteria produce the exact same insulin as the human; hence there are no side effects. - Another example includes Bt cotton. 1. Cotton seedlings are cut into small pieces & grown into calluses on a solid growth medium for 6 weeks. 2. They then grow into cotton plant embryos. 3. Via genetic engineering, the Bt gene is extracted from bacterium Bascillus Thuringiensis through the usage of restriction enzymes. 4. This extracted gene is then transferred to the cotton plant embryos, which is done by using a second bacterium as a vector. This vector, Agrobacterium tumefaciens is able to inject genes into other cells.
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5. The cotton plant embryos are dipped into solution that contains the agrobacterium and Bt gene. The vector then injects the Bt genes into the cotton embryos. 6. Once the gene is inserted, the embryos containing the Bt gene are grown in tissue culture, then on another solid medium and germinated into pots. Theyre then grown. 7. The cotton plant is now a transgenic species Bt cotton. Bt cotton has allowed the traditional usage of pesticide to be scrapped, as the Bt gene now allows the cotton plant to produce its own pesticide, which will only affect harmful organisms. Prior to the introduction of the Bt gene, heavy doses of pesticide were being used on the pests such as the helicoparzea caterpillar. It was beginning to develop a resistance to this pesticide. The insertion of Bt gene has reduced need for pesticides to be used hence lessening the impact on the environment and reduces chance of pests becoming pesticide resistant. Since it produces its own pesticide, greater yields have come about hence increasing financial gain. Another example includes transgenic sheep in Australia. These sheep have been produced so that they are able to secrete a protein that is fundamental to the treatment of haemophilia. This protein is secreted directly into their milk and can be used for human treatment.

Analyse information from secondary sources to identify examples of the use of transgenic species. Use available evidence to debate the ethical issues arising from the development & use of transgenic species. Environment and nature: - FOR: GM crops that are resistant to pests can be produced which means a decrease in the usage of pesticides hence a reduction in the harmful effects of pesticides on the environment. - AGAINST: Some religious groups believe that it is wrong to alter the genetic makeup of organisms and believe that they are playing God. Also, there are concerns that GM organisms, which are released into the environment, may cause new diseases and may develop strains that are resistant to drugs. Financial & social justice issues: - FOR: With the usage of GM crops, their overall quality can be enhanced so that they can become more resistant to pests food with longer shelf life, etc. This is cost effective, as less money needs to be spent on pesticides and less money is wasted since there is less wastage etc. - AGAINST: Vegetarians may unknowingly eat food with animal genes in it. Also, people in developing countries are unable to afford these GM crops that widen the poverty gap even more. Medical & health issues: - FOR: Foods with higher nutritional value can be made to supply better nutrition in developing countries. Reduced usage of pesticides is better for consumers health. - AGAINST: Potential long-term health risks of GM products are not yet known. People may have allergic reactions to food they could previously eat if the food contains DNA of another organism. ANIMAL RIGHTS AND HUMAN RIGHTS ISSUES: - FOR: GM products solve food shortage in developing countries, producing higher yield at lower cost. GM crop with higher nutritional value can be of benefit to starving people & reduce malnutrition. - AGAINST: Those with religious beliefs may not be able to eat foods that they previously ate if these foods contain genes from other organisms. There have been concerns about the long-term effects on transgenic organisms. For e.g.: When Friesian cows are crossed with jersey cows, some offspring have such large udders that they can barely walk.
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Discuss the potential impact of the use of reproduction technologies on the genetic diversity of a species using a named plant and animal example that have been genetically altered. Biodiversity refers to genetic variety. The introduction of foreign genes from genetically engineered organisms is linked strongly to the loss of biodiversity. Selective breeding may lead to a shot-term increase in biodiversity, however if these hybrid lines are continuously bred, the genetic diversity will decrease, hence, alleles from the initial population may be lost. Initially, cloning maintains the genetic diversity because the same genes are present in the cloned individuals as the parent from which they were cloned. In the long term, cloning decreases the genetic diversity in populations, as organisms produced by cloning are genetically identical to the parent. Identical copies of genes would be conserved within a population. Bt cotton is an example of a transgenic plant. The introduction of Bt crop initially increases the diversity of the gene pool as a new allele is introduced. However, if it becomes a standard form of cotton, genetic diversity will be reduced. The disadvantage of this is that if sudden environmental change occurs/ an introduction of disease, the entire species would become extinct. The genetically modified salmon contains Bovine Growth Hormone Gene. Their increased growth attracts female fish. If these transgenic fish are released into the wild population, they can potentially wipe out the entire population. In the long term this would reduce variation immensely as the GM forms would dominate. Process information from secondary sources to describe a methodology used in cloning. Methodology is called somatic cell nuclear transfer or nuclear transfer technology. The method used for cloning Dolly the sheep was done using this technique. Cells were taken from the udder of a 6-year-old ewe (sheep number 1). They were cultured on a low nutrient medium for a week to stop the cells from dividing, switch off their active genes and become dormant. The nucleus was removed from an unfertilised egg, a process called enucleation, of sheep number 2. The somatic cell from sheep 1 was injected into the enucleated egg of sheep 2. The 2 cells were placed next to each other and a gentle electric pulse caused them to fuse together. A second electric pulse triggered cell division into an embryo. After 6 days, the embryo was implanted into the uterus of a surrogate mother (sheep number 3). It continued to grow and was born after 148 days. The lamb, Dolly, was genetically identical to the ewe.

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